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Fetal anomalies v7.8 RET Ida Ertmanska Publications for gene: RET were set to
Fetal anomalies v7.6 RNF2 Ida Ertmanska gene: RNF2 was added
gene: RNF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF2 were set to 33864376; 40831499
Phenotypes for gene: RNF2 were set to Luo-Schoch-Yamamoto syndrome, OMIM:619460; Luo-Schoch-Yamamoto syndrome, MONDO:0859171
Review for gene: RNF2 was set to GREEN
Added comment: PMID: 40831499 Ryan et al., 2025 - PRE-PRINT
identified 3 monoallelic RNF2 variants in 4 unrelated individuals: c.245G>T (p.S82I) (in 2 unrelated cases), c.796A>T (p.R266W), and c.472C>T (p.R158*). 3 cases were confirmed to be de novo. Patients were age 21 months - 7 yrs at examination. All 4 patients had prenatal complications (IUGR, oligohydramnios, polyhydramnios), gastrointestinal and feeding difficulties, and dysmorphic features. Cardiovascular anomalies detected in 3/4 individuals, 2 had hearing loss.
Neurological symptoms: hypotonia (3/4), seizures (1/3), spasticity (2/4), developmental delay and intellectual disability (3/4).

PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Fetal anomalies v7.4 GNPNAT1 Ida Ertmanska Publications for gene: GNPNAT1 were set to 39945447
Fetal anomalies v7.2 CLCF1 Ida Ertmanska gene: CLCF1 was added
gene: CLCF1 was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: CLCF1.
Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCF1 were set to 16782820; 20400119; 32512309
Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, OMIM:610313; cold-induced sweating syndrome 2, MONDO:0012467; Elbow contracture, HP:0034391; Bilateral camptodactyly, HP:0005617
Review for gene: CLCF1 was set to GREEN
Added comment: PMID: 32512309 Buers et al., 2020
11-year-old boy of European ancestry, homozygous for CLCF1 c.321C>G, p.Tyr107*, with Crisponi Syndrome/cold-induced sweating syndrome 2.

PMID: 20400119 Hahn et al., 2010
Case 1 - female patient, Hungarian (non-consanguineous parents), 25yo - she had bilateral campodactyly (hands and feet), elbow contractures, dysmorphic features, thoracolumbar scoliosis, dry and scaly skin in neonatal period, and oral-facial weakness; from age 10 years she experienced excessive sweating triggered by cold or stressors; neurodevelopment was normal.
Case 2 - sibling of Case 1, 20yo - similarly affected, with profuse sweating in cold temperatures, difficulty sucking and swallowing in infancy, elbow contracture, campodactyly, scoliosis.
Both sibs had CLCF1 variants c.46T>C, p.Cys16Arg and c.676T>C, p.*226Argext*170 (both absent from gnomAD v4.1.1). No sequence variants detected in CRLF1
Case 3 & 4 - identical presentation, but biallelic CRLF1 variants detected.

PMID: 16782820 Rousseau et al., 2006
Australian man examined at age 46 years - he had feeding difficulties in infancy, lifelong issue of profuse sweating in cold temperatures and unable to sweat in hot conditions; also noted to have elbow contractures, campodactyly and syndactyly, thoracolumbar scoliosis and lumbar lordosis, mild sensorimotor peripheral neuropathy; brain MRI and tomography were normal. No family history. He was compound heterozygous for CLCF1 c.590G>T, p.Arg197Leu and c.321C>A, p.Tyr107* (not in gnomAD v4).

Functional evidence:
PMID: 19098279 Zou et al., 2009 - A complete knock-out of CLCF1 in mice is lethal at P1: underdeveloped motor neurons of the face and jaw prevent the pups from suckling - multifocal neuronal hypoplasia phenotype.

This gene is associated with AR Cold-induced sweating syndrome 2, OMIM:610313 in OMIM (accessed 11th May 2026). CLCF1 is not yet associated with a condition in G2P or ClinGen.
Sources: Literature
Fetal anomalies v6.195 ITCH Achchuthan Shanmugasundram Publications for gene: ITCH were set to 20170897; 31091003
Fetal anomalies v6.188 WDHD1 Achchuthan Shanmugasundram gene: WDHD1 was added
gene: WDHD1 was added to Fetal anomalies. Sources: Literature
Q2_26_promote_green tags were added to gene: WDHD1.
Mode of inheritance for gene: WDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDHD1 were set to 41962535
Phenotypes for gene: WDHD1 were set to microcephalic osteodysplastic primordial dwarfism, MONDO:0000060; Intrauterine growth retardation, HP:0001511
Review for gene: WDHD1 was set to GREEN
Added comment: PMID:41962535 (2026) reported the identification of biallelic hypomorphic variants in WDHD1 gene in 17 patients from 14 families with microcephalic primordial dwarfism (MPD) and a broad spectrum of additional abnormalities including acute liver failure. IUGR and/ or other foetal abnormalities such as microcephaly and oligohydramnios were reported in all cases. Four cases from three families had prenatal death or termination of pregnancy. There is also functional evidence available from patient-derived fibroblasts which supports the disease association.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype (records last accessed 14 April 2026).
Sources: Literature
Fetal anomalies v6.180 WDR91 Arina Puzriakova Publications for gene: WDR91 were set to 32732226; 34028500; 28860274
Fetal anomalies v6.178 HMGB1 Ida Ertmanska Publications for gene: HMGB1 were set to 34164801
Fetal anomalies v6.176 TMEM17 Arina Puzriakova Publications for gene: TMEM17 were set to
Fetal anomalies v6.174 TMEM167A Arina Puzriakova Publications for gene: TMEM167A were set to
Fetal anomalies v6.172 RREB1 Arina Puzriakova Publications for gene: RREB1 were set to
Fetal anomalies v6.169 SIX2 Arina Puzriakova Publications for gene: SIX2 were set to
Fetal anomalies v6.166 SHROOM4 Arina Puzriakova Publications for gene: SHROOM4 were set to 36379543; 32565546
Fetal anomalies v6.164 RSG1 Arina Puzriakova Publications for gene: RSG1 were set to
Fetal anomalies v6.162 RBBP5 Arina Puzriakova Publications for gene: RBBP5 were set to
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple reports of prenatal features in female pregnancies e.g. PMID:3970286; PMID:40884785,PMID:34987808.; to: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows: Multiple reports of prenatal features in female pregnancies e.g. PMID:3970286; PMID:40884785,PMID:34987808.
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Deletions of LINC01081/LINC01082 cause same phenotype as variants in FOXF1, which is green on the fetal anomalies panel. No reports of sequence variants in LINC01081/LINC01082. Deletions may not be detectable by exome sequencing but gene should be added to panel in anticipation of WGS.
Fetal anomalies v6.156 MED12 Achchuthan Shanmugasundram Source NHS GMS was added to MED12.
Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.155 RNU7-1 Arina Puzriakova Publications for gene: RNU7-1 were set to
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova Publications for gene: RNU2-2P were set to
Fetal anomalies v6.153 CLCNKB Arina Puzriakova Publications for gene: CLCNKB were set to
Fetal anomalies v6.151 ZNF865 Ida Ertmanska gene: ZNF865 was added
gene: ZNF865 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZNF865 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF865 were set to 40936200
Phenotypes for gene: ZNF865 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: ZNF865 was set to GREEN
Added comment: PMID: 40936200 Bradbrook et al., 2025 Report of 18 unrelated individuals (Caucasian / Latino ethnicity) with developmental delay and shared dysmorphic features, harbouring heterozygous variants in ZNF865. Method: WGS / WES. Majority described as severely delayed, with speech delay and moderate to severe learning difficulties; avg age of walking = 24 months, 9/18 patients presented with hypotonia, 1 patient diagnosed with epilepsy, 9/15 had digit anomalies. On MRI, 8/14 patients had brain abnormalities, including hypoplasia of corpus callosum and ventriculomegaly - may be detected prenatally?. Shared dysmorphic features: broad nasal bridge, hypertelorism, low-set ears. 14 unique variants (nonsense of frameshift) were detected, mostly towards the C-terminus. Variants were confirmed as de novo in 15 individuals.
This gene is not yet linked to any phenotype in OMIM (accessed 30th Dec 2025).
Sources: Literature
Fetal anomalies v6.149 ZPR1 Arina Puzriakova commented on gene: ZPR1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZNF668 Arina Puzriakova commented on gene: ZNF668: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ZBTB7A Arina Puzriakova commented on gene: ZBTB7A: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 YY1AP1 Arina Puzriakova commented on gene: YY1AP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WNK3 Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS51 Arina Puzriakova commented on gene: VPS51: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS50 Arina Puzriakova commented on gene: VPS50: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 VPS33A Arina Puzriakova commented on gene: VPS33A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 UGGT1 Arina Puzriakova commented on gene: UGGT1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TTC26 Arina Puzriakova commented on gene: TTC26: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TPRKB Arina Puzriakova commented on gene: TPRKB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TP53RK Arina Puzriakova commented on gene: TP53RK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM251 Arina Puzriakova commented on gene: TMEM251: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM17 Arina Puzriakova commented on gene: TMEM17: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TMEM167A Arina Puzriakova commented on gene: TMEM167A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 THUMPD1 Arina Puzriakova commented on gene: THUMPD1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TASP1 Arina Puzriakova commented on gene: TASP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SOX4 Arina Puzriakova commented on gene: SOX4: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMG8 Arina Puzriakova commented on gene: SMG8: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMC5 Arina Puzriakova commented on gene: SMC5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SMARCC2 Arina Puzriakova commented on gene: SMARCC2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLF2 Arina Puzriakova commented on gene: SLF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SLC5A6 Arina Puzriakova commented on gene: SLC5A6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SKOR2 Arina Puzriakova commented on gene: SKOR2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SIX2 Arina Puzriakova commented on gene: SIX2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SCNM1 Arina Puzriakova commented on gene: SCNM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SATB1 Arina Puzriakova commented on gene: SATB1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SART3 Arina Puzriakova commented on gene: SART3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RSG1 Arina Puzriakova commented on gene: RSG1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RNU7-1 Arina Puzriakova commented on gene: RNU7-1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RHOBTB2 Arina Puzriakova commented on gene: RHOBTB2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RBBP5 Arina Puzriakova commented on gene: RBBP5: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALGAPA1 Arina Puzriakova commented on gene: RALGAPA1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 RALA Arina Puzriakova commented on gene: RALA: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRKCI Arina Puzriakova commented on gene: PRKCI: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PRDM13 Arina Puzriakova commented on gene: PRDM13: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R21 Arina Puzriakova commented on gene: PPP1R21: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PLXNA1 Arina Puzriakova commented on gene: PLXNA1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGU Arina Puzriakova commented on gene: PIGU: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGK Arina Puzriakova commented on gene: PIGK: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PIGB Arina Puzriakova commented on gene: PIGB: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDIA6 Arina Puzriakova commented on gene: PDIA6: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NUP133 Arina Puzriakova commented on gene: NUP133: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NR6A1 Arina Puzriakova commented on gene: NR6A1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MYLPF Arina Puzriakova commented on gene: MYLPF: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LSM1 Arina Puzriakova commented on gene: LSM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LRRC32 Arina Puzriakova commented on gene: LRRC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LMOD2 Arina Puzriakova commented on gene: LMOD2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 LEF1 Arina Puzriakova commented on gene: LEF1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KDM4B Arina Puzriakova commented on gene: KDM4B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 INPP4A Arina Puzriakova commented on gene: INPP4A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IL6ST Arina Puzriakova commented on gene: IL6ST: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 IFT57 Arina Puzriakova commented on gene: IFT57: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPR Arina Puzriakova commented on gene: HNRNPR: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HNRNPH1 Arina Puzriakova commented on gene: HNRNPH1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HERC2 Arina Puzriakova commented on gene: HERC2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 H3F3B Arina Puzriakova commented on gene: H3F3B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GTF3C3 Arina Puzriakova commented on gene: GTF3C3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GON7 Arina Puzriakova commented on gene: GON7: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GINS3 Arina Puzriakova commented on gene: GINS3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FGF4 Arina Puzriakova commented on gene: FGF4: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FEM1B Arina Puzriakova commented on gene: FEM1B: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXW7 Arina Puzriakova commented on gene: FBXW7: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FBXO28 Arina Puzriakova commented on gene: FBXO28: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EMC10 Arina Puzriakova commented on gene: EMC10: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EIF4A2 Arina Puzriakova commented on gene: EIF4A2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DPH5 Arina Puzriakova commented on gene: DPH5: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DOT1L Arina Puzriakova commented on gene: DOT1L: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 DHX37 Arina Puzriakova commented on gene: DHX37: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CSDE1 Arina Puzriakova commented on gene: CSDE1: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKA Arina Puzriakova commented on gene: CLCNKA: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCN3 Arina Puzriakova commented on gene: CLCN3: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CEP76 Arina Puzriakova commented on gene: CEP76: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42BPB Arina Puzriakova commented on gene: CDC42BPB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CDC42 Arina Puzriakova commented on gene: CDC42: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC88A Arina Puzriakova commented on gene: CCDC88A: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CCDC32 Arina Puzriakova commented on gene: CCDC32: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CBFB Arina Puzriakova commented on gene: CBFB: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CAMSAP1 Arina Puzriakova commented on gene: CAMSAP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF2 Arina Puzriakova commented on gene: BRF2: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BBIP1 Arina Puzriakova commented on gene: BBIP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ARF3 Arina Puzriakova commented on gene: ARF3: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ADAT3 Arina Puzriakova commented on gene: ADAT3: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ABI2 Arina Puzriakova commented on gene: ABI2: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v6.147 GPKOW Natalie Chandler reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: 28612833, 40221893; Phenotypes: Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.146 YWHAE Arina Puzriakova gene: YWHAE was added
gene: YWHAE was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 TRPM4 Arina Puzriakova gene: TRPM4 was added
gene: TRPM4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SPTBN1 Arina Puzriakova gene: SPTBN1 was added
gene: SPTBN1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SPOP Arina Puzriakova gene: SPOP was added
gene: SPOP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SLC13A1 Arina Puzriakova gene: SLC13A1 was added
gene: SLC13A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SGCD Arina Puzriakova gene: SGCD was added
gene: SGCD was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SGCB Arina Puzriakova gene: SGCB was added
gene: SGCB was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 SF1 Arina Puzriakova gene: SF1 was added
gene: SF1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 SEPHS1 Arina Puzriakova gene: SEPHS1 was added
gene: SEPHS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RREB1 Arina Puzriakova gene: RREB1 was added
gene: RREB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ROBO4 Arina Puzriakova gene: ROBO4 was added
gene: ROBO4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RNU2-2P Arina Puzriakova gene: RNU2-2P was added
gene: RNU2-2P was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU2-2P was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.146 RNPC3 Arina Puzriakova gene: RNPC3 was added
gene: RNPC3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 RNF13 Arina Puzriakova gene: RNF13 was added
gene: RNF13 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 RASA2 Arina Puzriakova gene: RASA2 was added
gene: RASA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 POLA1 Arina Puzriakova gene: POLA1 was added
gene: POLA1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.146 PLXNB3 Arina Puzriakova gene: PLXNB3 was added
gene: PLXNB3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: PLXNB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 PLXNB2 Arina Puzriakova gene: PLXNB2 was added
gene: PLXNB2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 PDCD6IP Arina Puzriakova gene: PDCD6IP was added
gene: PDCD6IP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 PCLO Arina Puzriakova gene: PCLO was added
gene: PCLO was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 NOTCH3 Arina Puzriakova gene: NOTCH3 was added
gene: NOTCH3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 MMP9 Arina Puzriakova gene: MMP9 was added
gene: MMP9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 LINC01578 Arina Puzriakova gene: LINC01578 was added
gene: LINC01578 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 LHX2 Arina Puzriakova gene: LHX2 was added
gene: LHX2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 KCNN4 Arina Puzriakova gene: KCNN4 was added
gene: KCNN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 IKZF2 Arina Puzriakova gene: IKZF2 was added
gene: IKZF2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 HEY2 Arina Puzriakova gene: HEY2 was added
gene: HEY2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HEY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 HACD1 Arina Puzriakova gene: HACD1 was added
gene: HACD1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 FIBP Arina Puzriakova gene: FIBP was added
gene: FIBP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 EXOSC1 Arina Puzriakova gene: EXOSC1 was added
gene: EXOSC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ELFN1 Arina Puzriakova gene: ELFN1 was added
gene: ELFN1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DNAH14 Arina Puzriakova gene: DNAH14 was added
gene: DNAH14 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DIP2C Arina Puzriakova gene: DIP2C was added
gene: DIP2C was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 DHRS3 Arina Puzriakova gene: DHRS3 was added
gene: DHRS3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DHPS Arina Puzriakova gene: DHPS was added
gene: DHPS was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 DDX23 Arina Puzriakova gene: DDX23 was added
gene: DDX23 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 DDR1 Arina Puzriakova gene: DDR1 was added
gene: DDR1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 CPOX Arina Puzriakova gene: CPOX was added
gene: CPOX was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CPOX was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 CDX1 Arina Puzriakova gene: CDX1 was added
gene: CDX1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 CDC40 Arina Puzriakova gene: CDC40 was added
gene: CDC40 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 BUB1 Arina Puzriakova gene: BUB1 was added
gene: BUB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 BAZ2B Arina Puzriakova gene: BAZ2B was added
gene: BAZ2B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ATP6V0A1 Arina Puzriakova gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.146 ARHGEF40 Arina Puzriakova gene: ARHGEF40 was added
gene: ARHGEF40 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ARAF Arina Puzriakova gene: ARAF was added
gene: ARAF was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 ALKBH8 Arina Puzriakova gene: ALKBH8 was added
gene: ALKBH8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 AIMP2 Arina Puzriakova gene: AIMP2 was added
gene: AIMP2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ADAMTS9 Arina Puzriakova gene: ADAMTS9 was added
gene: ADAMTS9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.146 ADAMTS13 Arina Puzriakova gene: ADAMTS13 was added
gene: ADAMTS13 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 WASHC3 Arina Puzriakova gene: WASHC3 was added
gene: WASHC3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.145 TMPRSS7 Arina Puzriakova gene: TMPRSS7 was added
gene: TMPRSS7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMPRSS7 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 TMEM263 Arina Puzriakova gene: TMEM263 was added
gene: TMEM263 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM263 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 SMAD5 Arina Puzriakova gene: SMAD5 was added
gene: SMAD5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SMAD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 RAB35 Arina Puzriakova gene: RAB35 was added
gene: RAB35 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: RAB35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 PATJ Arina Puzriakova gene: PATJ was added
gene: PATJ was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PATJ was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 PACSIN3 Arina Puzriakova gene: PACSIN3 was added
gene: PACSIN3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 NUDCD2 Arina Puzriakova gene: NUDCD2 was added
gene: NUDCD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 HDAC2 Arina Puzriakova gene: HDAC2 was added
gene: HDAC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HDAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.145 ETV2 Arina Puzriakova gene: ETV2 was added
gene: ETV2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 ENPP5 Arina Puzriakova gene: ENPP5 was added
gene: ENPP5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ENPP5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CEP162 Arina Puzriakova gene: CEP162 was added
gene: CEP162 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CEP162 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CCP110 Arina Puzriakova gene: CCP110 was added
gene: CCP110 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCP110 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 CCM2L Arina Puzriakova gene: CCM2L was added
gene: CCM2L was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CCM2L was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 BNIP1 Arina Puzriakova gene: BNIP1 was added
gene: BNIP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 ARHGEF17 Arina Puzriakova gene: ARHGEF17 was added
gene: ARHGEF17 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARHGEF17 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.145 AMOT Arina Puzriakova gene: AMOT was added
gene: AMOT was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.143 ZPR1 Arina Puzriakova gene: ZPR1 was added
gene: ZPR1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ZNF668 Arina Puzriakova gene: ZNF668 was added
gene: ZNF668 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ZBTB7A Arina Puzriakova gene: ZBTB7A was added
gene: ZBTB7A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ZBTB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 YY1AP1 Arina Puzriakova gene: YY1AP1 was added
gene: YY1AP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 WNK3 Arina Puzriakova gene: WNK3 was added
gene: WNK3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.143 VPS51 Arina Puzriakova gene: VPS51 was added
gene: VPS51 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 VPS50 Arina Puzriakova gene: VPS50 was added
gene: VPS50 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 VPS33A Arina Puzriakova gene: VPS33A was added
gene: VPS33A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 UGGT1 Arina Puzriakova gene: UGGT1 was added
gene: UGGT1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TTC26 Arina Puzriakova gene: TTC26 was added
gene: TTC26 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TPRKB Arina Puzriakova gene: TPRKB was added
gene: TPRKB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TP53RK Arina Puzriakova gene: TP53RK was added
gene: TP53RK was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM251 Arina Puzriakova gene: TMEM251 was added
gene: TMEM251 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM17 Arina Puzriakova gene: TMEM17 was added
gene: TMEM17 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TMEM167A Arina Puzriakova gene: TMEM167A was added
gene: TMEM167A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM167A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 THUMPD1 Arina Puzriakova gene: THUMPD1 was added
gene: THUMPD1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 TASP1 Arina Puzriakova gene: TASP1 was added
gene: TASP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SOX4 Arina Puzriakova gene: SOX4 was added
gene: SOX4 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SMG8 Arina Puzriakova gene: SMG8 was added
gene: SMG8 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SMC5 Arina Puzriakova gene: SMC5 was added
gene: SMC5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SMARCC2 Arina Puzriakova gene: SMARCC2 was added
gene: SMARCC2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SLF2 Arina Puzriakova gene: SLF2 was added
gene: SLF2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SLC5A6 Arina Puzriakova gene: SLC5A6 was added
gene: SLC5A6 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SKOR2 Arina Puzriakova gene: SKOR2 was added
gene: SKOR2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SKOR2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SIX2 Arina Puzriakova gene: SIX2 was added
gene: SIX2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SCNM1 Arina Puzriakova gene: SCNM1 was added
gene: SCNM1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 SATB1 Arina Puzriakova gene: SATB1 was added
gene: SATB1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 SART3 Arina Puzriakova gene: SART3 was added
gene: SART3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RSG1 Arina Puzriakova gene: RSG1 was added
gene: RSG1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RNU7-1 Arina Puzriakova gene: RNU7-1 was added
gene: RNU7-1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RHOBTB2 Arina Puzriakova gene: RHOBTB2 was added
gene: RHOBTB2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RHOBTB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 RBBP5 Arina Puzriakova gene: RBBP5 was added
gene: RBBP5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 RALGAPA1 Arina Puzriakova gene: RALGAPA1 was added
gene: RALGAPA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 RALA Arina Puzriakova gene: RALA was added
gene: RALA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 PRKCI Arina Puzriakova gene: PRKCI was added
gene: PRKCI was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PRKCI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 PRDM13 Arina Puzriakova gene: PRDM13 was added
gene: PRDM13 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PPP1R21 Arina Puzriakova gene: PPP1R21 was added
gene: PPP1R21 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PLXNA1 Arina Puzriakova gene: PLXNA1 was added
gene: PLXNA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGU Arina Puzriakova gene: PIGU was added
gene: PIGU was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGK Arina Puzriakova gene: PIGK was added
gene: PIGK was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PIGB Arina Puzriakova gene: PIGB was added
gene: PIGB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 PDIA6 Arina Puzriakova gene: PDIA6 was added
gene: PDIA6 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 NUP133 Arina Puzriakova gene: NUP133 was added
gene: NUP133 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 NR6A1 Arina Puzriakova gene: NR6A1 was added
gene: NR6A1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 MYLPF Arina Puzriakova gene: MYLPF was added
gene: MYLPF was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LSM1 Arina Puzriakova gene: LSM1 was added
gene: LSM1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LRRC32 Arina Puzriakova gene: LRRC32 was added
gene: LRRC32 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LMOD2 Arina Puzriakova gene: LMOD2 was added
gene: LMOD2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 LEF1 Arina Puzriakova gene: LEF1 was added
gene: LEF1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 KDM4B Arina Puzriakova gene: KDM4B was added
gene: KDM4B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 INPP4A Arina Puzriakova gene: INPP4A was added
gene: INPP4A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 IL6ST Arina Puzriakova gene: IL6ST was added
gene: IL6ST was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 IFT57 Arina Puzriakova gene: IFT57 was added
gene: IFT57 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 HNRNPR Arina Puzriakova gene: HNRNPR was added
gene: HNRNPR was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 HNRNPH1 Arina Puzriakova gene: HNRNPH1 was added
gene: HNRNPH1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 HERC2 Arina Puzriakova gene: HERC2 was added
gene: HERC2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 H3F3B Arina Puzriakova gene: H3F3B was added
gene: H3F3B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 GTF3C3 Arina Puzriakova gene: GTF3C3 was added
gene: GTF3C3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GON7 Arina Puzriakova gene: GON7 was added
gene: GON7 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 GINS3 Arina Puzriakova gene: GINS3 was added
gene: GINS3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 FGF4 Arina Puzriakova gene: FGF4 was added
gene: FGF4 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 FEM1B Arina Puzriakova gene: FEM1B was added
gene: FEM1B was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 FBXW7 Arina Puzriakova gene: FBXW7 was added
gene: FBXW7 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 FBXO28 Arina Puzriakova gene: FBXO28 was added
gene: FBXO28 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 EMC10 Arina Puzriakova gene: EMC10 was added
gene: EMC10 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 EIF4A2 Arina Puzriakova gene: EIF4A2 was added
gene: EIF4A2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 DPH5 Arina Puzriakova gene: DPH5 was added
gene: DPH5 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 DOT1L Arina Puzriakova gene: DOT1L was added
gene: DOT1L was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 DHX37 Arina Puzriakova gene: DHX37 was added
gene: DHX37 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: DHX37 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CSDE1 Arina Puzriakova gene: CSDE1 was added
gene: CSDE1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CLCNKA Arina Puzriakova gene: CLCNKA was added
gene: CLCNKA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CLCN3 Arina Puzriakova gene: CLCN3 was added
gene: CLCN3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.143 CEP76 Arina Puzriakova gene: CEP76 was added
gene: CEP76 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CDC42BPB Arina Puzriakova gene: CDC42BPB was added
gene: CDC42BPB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CDC42 Arina Puzriakova gene: CDC42 was added
gene: CDC42 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CCDC88A Arina Puzriakova gene: CCDC88A was added
gene: CCDC88A was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CCDC32 Arina Puzriakova gene: CCDC32 was added
gene: CCDC32 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 CBFB Arina Puzriakova gene: CBFB was added
gene: CBFB was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 CAMSAP1 Arina Puzriakova gene: CAMSAP1 was added
gene: CAMSAP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 BRF2 Arina Puzriakova gene: BRF2 was added
gene: BRF2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: BRF2 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 BBIP1 Arina Puzriakova gene: BBIP1 was added
gene: BBIP1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ARF3 Arina Puzriakova gene: ARF3 was added
gene: ARF3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.143 ADAT3 Arina Puzriakova gene: ADAT3 was added
gene: ADAT3 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 ABI2 Arina Puzriakova gene: ABI2 was added
gene: ABI2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: ABI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.142 FSD1L Ida Ertmanska gene: FSD1L was added
gene: FSD1L was added to Fetal anomalies. Sources: Literature
Q1_26_promote_green tags were added to gene: FSD1L.
Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FSD1L were set to 41720098; 41720099
Phenotypes for gene: FSD1L were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: FSD1L was set to GREEN
Added comment: PMID: 41720098 Serpieri et al., 2026
Report of eleven individuals (including five fetuses) from six unrelated families harbouring biallelic FSD1L variants. Seq method: exome sequencing. Consanguinity was confirmed in 4/6 families, and suspected in the fifth.
Phenotype spectrum: severe intellectual disability (5/5 assessed from 3 families), epilepsy (5 individuals from 3 families), severe hydrocephalus (3 families), vision deficit due to optic nerve hypoplasia/atrophy (3 families), spastic tetraparesis (2 families) corpus callosum hypoplasia/agenesis on MRI (5/5 families assessed),

Variants detected - largely nonsense type:
Family A - homozygous c.409T>G (p.Leu137Val);
Family B - 3 affected fetuses homozygous for c.1411C>T (p.Gln471Ter);
Family C - sibs compound het for c.1228T>G (p.Phe410Val) and c.1251_1252insTAA (p.Thr418Ter);
Family D - affected individuals (1 fetal case) homozygous for c.1366G>C (p.Asp456His) - shown to impact splicing (r.406_442del), resulting in predicted p.Ser136LeufsTer19 change;
Family E - affected child with homozygous c.835C>T (p.Arg279Ter) change;
Family F - fetus homozygous for c.1260G>A (p.Trp420Ter);

Functional evidence: Fsd1l depletion in mouse embryos recapitulated the ventricular dilation observed in affected fetuses.

PMID 41720099 Lin et al., 2026
Report of 6 affected individuals from 4 families with retinitis pigmentosa. One individual underwent a full neurological evaluation, including brain neuroimaging, which revealed no evidence of central nervous system involvement.
FSD1L variants detected:
Family A: 2 sibs compound het for c.1049G>A (p.Arg350Gln) and c.1428del (p.Phe476Leufs∗22)
Family B: individual comp het for c.488G>A (p.Arg163His), c.488G>A & c.745C>T (p.Arg249∗)
Family C: 2 sibs compound het for c.488G>A (p.Arg163His) & c.226_227del (p.Ser77Argfs∗4)
Family D: individual compound het for c.1037_1038delinsT (p.Pro346Leufs∗8) and c.1025+624_1025+649del
Sibs from family A had mild neurological involvement (mild ID, spastic diplegia in one sibling).
Authors note that "specific combination and functional severity of the two alleles likely determines the clinical outcome", with non-LoF variants causing a milder effect (e.g., isolated retinal phenotype).

FSD1L is not yet associated with a phenotype in OMIM or Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.137 PAICS Arina Puzriakova Publications for gene: PAICS were set to 31178128; 31600779; 3965093; 38179855; 30758658
Fetal anomalies v6.133 SNAPIN Achchuthan Shanmugasundram gene: SNAPIN was added
gene: SNAPIN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPIN were set to 40930097
Phenotypes for gene: SNAPIN were set to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
Review for gene: SNAPIN was set to GREEN
Added comment: PMID:40930097 (2025) reported six patients from five unrelated families presenting with neuroanatomical, craniofacial, and skeletal anomalies and were identified with homozygous variants in SNAPIN gene. This included four foetuses from three unrelated families (had nonsense or splice site variants - c.91G>T/ p.Glu31Ter, c.144−1G>A & c.112C>T/ p.Gln38Ter) and two unrelated patients aged eight years old and one year old (had missense variants - c.147G>C/ p.Glu49Asp & c.163C>T/ p.Arg55Trp). One of the foetuses had intrauterine demise at 26 weeks' gestation, and the other 3 pregnancies ended in termination.

Brain abnormalities in the patients included ventriculomegaly (5/6), cerebellar hypoplasia/ atrophy (5/6) and corpus callosum agenesis (4/6). The other phenotypes included clubfeet (4/6), flexion contractures (4/6), microcephaly (3/6) and micrognathia/retrognathia (4/6).

Functional evidence is also available from zebrafish gene ablation models, which recapitulated human-relevant disease phenotypes.

This gene has been associated with relevant phenotype in OMIM (MIM #621393, last accessed on 02 January 2026), but not yet in Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.131 WSB2 Achchuthan Shanmugasundram gene: WSB2 was added
gene: WSB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WSB2 were set to 40374945
Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: WSB2 was set to GREEN
Added comment: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents.

Intrauterine growth restriction (IUGR) was reported in two unrelated patients and Oligohydramnios was reported in a different unrelated patient.

There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina.

This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.122 MIA3 Arina Puzriakova Publications for gene: MIA3 were set to 32101163; 40119123; 33778321
Fetal anomalies v6.113 KIAA0556 Arina Puzriakova Publications for gene: KIAA0556 were set to 27245168; 26714646
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.108 LAMC3 Achchuthan Shanmugasundram Publications for gene: LAMC3 were set to 30266093
Fetal anomalies v6.107 LAMC3 Eleanor Williams Publications for gene: LAMC3 were set to
Fetal anomalies v6.105 PTBP1 Arina Puzriakova gene: PTBP1 was added
gene: PTBP1 was added to Fetal anomalies. Sources: Literature,Expert Review Amber,NHS GMS
Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: PTBP1.
Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTBP1 were set to 40965981
Phenotypes for gene: PTBP1 were set to Neurodevelopmental disorder, MONDO:0700092
Penetrance for gene: PTBP1 were set to unknown
Fetal anomalies v6.103 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 33645542; 27799408; 33142350
Fetal anomalies v6.101 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.100 LINC01081 Achchuthan Shanmugasundram Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.98 LINC01082 Achchuthan Shanmugasundram Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.93 DST Eleanor Williams Publications for gene: DST were set to 37431644; 40497796; 35942699
Fetal anomalies v6.91 DST Eleanor Williams Publications for gene: DST were set to 37431644
Fetal anomalies v6.88 EMX2 Eleanor Williams Publications for gene: EMX2 were set to
Fetal anomalies v6.84 EVC2 Eleanor Williams Publications for gene: EVC2 were set to
Fetal anomalies v6.24 NEUROD1 Soo-Mi Park reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26669242, 20573748, 10545951, 29521454, 26773576, 19609565; Phenotypes: Maturity-onset diabetes of the young 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 MYL2 Vicki Harrison reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39831482; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Cardiomyopathy, hypertrophic, 10; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 G6PD Sarah Graham reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: 39041728; Phenotypes: Glucose-6-phosphate dehydrogenase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.24 BORCS8 Natalie Canham reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: 38128568; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.22 XYLT1_GCC Arina Puzriakova STR: XYLT1_GCC was added
STR: XYLT1_GCC was added to Fetal anomalies. Sources: Literature
STR, NGS Not Validated tags were added to STR: XYLT1_GCC.
Mode of inheritance for STR: XYLT1_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: XYLT1_GCC were set to 22711505; 30554721
Phenotypes for STR: XYLT1_GCC were set to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Fetal anomalies v6.21 CDH11 Arina Puzriakova gene: CDH11 was added
gene: CDH11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDH11 were set to 33811546; 29271567
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome
Fetal anomalies v6.21 FAAP100 Arina Puzriakova gene: FAAP100 was added
gene: FAAP100 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP100 were set to 40244696; 40232843
Phenotypes for gene: FAAP100 were set to Fanconi anemia
Fetal anomalies v6.21 BORCS5 Arina Puzriakova gene: BORCS5 was added
gene: BORCS5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 40385417
Phenotypes for gene: BORCS5 were set to Arthrogryposis multiplex congenita, brain malformations
Fetal anomalies v6.21 MAGED2 Arina Puzriakova gene: MAGED2 was added
gene: MAGED2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient
Fetal anomalies v6.21 ZNRF3 Arina Puzriakova gene: ZNRF3 was added
gene: ZNRF3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNRF3 were set to 39168120
Phenotypes for gene: ZNRF3 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 ZNF808 Arina Puzriakova gene: ZNF808 was added
gene: ZNF808 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF808 were set to 37308312; 37973953
Phenotypes for gene: ZNF808 were set to Pancreatic agenesis 3
Fetal anomalies v6.21 ZEB1 Arina Puzriakova gene: ZEB1 was added
gene: ZEB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZEB1 were set to 37857482
Phenotypes for gene: ZEB1 were set to Anomalies of the corpus callosum
Fetal anomalies v6.21 WDR47 Arina Puzriakova gene: WDR47 was added
gene: WDR47 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR47 were set to 39609633
Phenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 40219868; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Fetal anomalies v6.21 TPM1 Arina Puzriakova gene: TPM1 was added
gene: TPM1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM1 were set to 33553264
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9
Fetal anomalies v6.21 C14orf80 Arina Puzriakova gene: C14orf80 was added
gene: C14orf80 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680
Phenotypes for gene: C14orf80 were set to severe growth impairment and endocrine complications
Fetal anomalies v6.21 TCP1 Arina Puzriakova gene: TCP1 was added
gene: TCP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures
Fetal anomalies v6.21 TAAR1 Arina Puzriakova gene: TAAR1 was added
gene: TAAR1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TAAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAAR1 were set to 39891418
Phenotypes for gene: TAAR1 were set to Cerebellar vermis hypoplasia, cystic kidneys, polydactyly
Fetal anomalies v6.21 SUPT7L Arina Puzriakova gene: SUPT7L was added
gene: SUPT7L was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SUPT7L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPT7L were set to 38592547
Phenotypes for gene: SUPT7L were set to Fischer-Zirnsak progeroid syndrome
Fetal anomalies v6.21 STXBP2 Arina Puzriakova gene: STXBP2 was added
gene: STXBP2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 33593331; 38084697
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease
Fetal anomalies v6.21 STX11 Arina Puzriakova gene: STX11 was added
gene: STX11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552
Fetal anomalies v6.21 SRPK3 Arina Puzriakova gene: SRPK3 was added
gene: SRPK3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPK3 were set to 39073169
Phenotypes for gene: SRPK3 were set to X-linked intellectual developmental disorder-114
Fetal anomalies v6.21 SPOUT1 Arina Puzriakova gene: SPOUT1 was added
gene: SPOUT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
Fetal anomalies v6.21 SNAPC4 Arina Puzriakova gene: SNAPC4 was added
gene: SNAPC4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPC4 were set to 40186013
Phenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Fetal anomalies v6.21 SLC35A3 Arina Puzriakova gene: SLC35A3 was added
gene: SLC35A3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 28328131; 28777481; 24031089; 33416188
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures, OMIM:615553
Fetal anomalies v6.21 SLC30A5 Arina Puzriakova gene: SLC30A5 was added
gene: SLC30A5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919; 39790720
Phenotypes for gene: SLC30A5 were set to Cardiomyopathy, hydrops fetalis, or cystic hygroma
Fetal anomalies v6.21 SLC19A1 Arina Puzriakova gene: SLC19A1 was added
gene: SLC19A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275; 36745868; 11266438; 36517554
Phenotypes for gene: SLC19A1 were set to Immunodeficiency 114, folate-responsive
Fetal anomalies v6.21 SLC12A9 Arina Puzriakova gene: SLC12A9 was added
gene: SLC12A9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A9 were set to 38334070
Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
Fetal anomalies v6.21 SENP7 Arina Puzriakova gene: SENP7 was added
gene: SENP7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 37460201; 39763084
Phenotypes for gene: SENP7 were set to Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
Fetal anomalies v6.21 SEL1L Arina Puzriakova gene: SEL1L was added
gene: SEL1L was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEL1L were set to 37943617; 37943610
Phenotypes for gene: SEL1L were set to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
Fetal anomalies v6.21 RPL26 Arina Puzriakova gene: RPL26 was added
gene: RPL26 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL26 were set to 22431104; 39268718
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, OMIM:614900
Fetal anomalies v6.21 RNU5B-1 Arina Puzriakova gene: RNU5B-1 was added
gene: RNU5B-1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5B-1 were set to 40379786
Phenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
Fetal anomalies v6.21 RNU5A-1 Arina Puzriakova gene: RNU5A-1 was added
gene: RNU5A-1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU5A-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5A-1 were set to 40379786
Phenotypes for gene: RNU5A-1 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 RNF31 Arina Puzriakova gene: RNF31 was added
gene: RNF31 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF31 were set to 26008899; 30936877
Phenotypes for gene: RNF31 were set to Immunodeficiency 115 with autoinflammation
Fetal anomalies v6.21 RIPPLY2 Arina Puzriakova gene: RIPPLY2 was added
gene: RIPPLY2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RIPPLY2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPPLY2 were set to 26238661; 25343988; 32212228; 33410135
Phenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6, OMIM:616566
Fetal anomalies v6.21 RBFOX2 Arina Puzriakova gene: RBFOX2 was added
gene: RBFOX2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX2 were set to 27670201; 25205790; 37165897; 26785492; 27485310; 35137168
Phenotypes for gene: RBFOX2 were set to Congenital heart disease, MONDO:0005453
Fetal anomalies v6.21 PUS3 Arina Puzriakova gene: PUS3 was added
gene: PUS3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 31444731; 39891418; 30308082; 30697592; 27055666
Phenotypes for gene: PUS3 were set to Neurodevelopmental disorder with microcephaly and gray sclerae
Fetal anomalies v6.21 PSKH1 Arina Puzriakova gene: PSKH1 was added
gene: PSKH1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSKH1 were set to 39132680
Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382
Fetal anomalies v6.21 PROC Arina Puzriakova gene: PROC was added
gene: PROC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROC were set to 39763161
Phenotypes for gene: PROC were set to Thrombophilia 3 due to protein C deficiency, autosomal recessive
Fetal anomalies v6.21 PPFIBP1 Arina Puzriakova gene: PPFIBP1 was added
gene: PPFIBP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 35830857; 37229200
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Fetal anomalies v6.21 PPFIA3 Arina Puzriakova gene: PPFIA3 was added
gene: PPFIA3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPFIA3 were set to 37034625; 38508193; 38723631; 38181735
Phenotypes for gene: PPFIA3 were set to Paul-Chao neurodevelopmental syndrome
Fetal anomalies v6.21 POU3F3 Arina Puzriakova gene: POU3F3 was added
gene: POU3F3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 37593446; 31303265
Phenotypes for gene: POU3F3 were set to Snijders Blok-Fisher syndrome
Fetal anomalies v6.21 PLVAP Arina Puzriakova gene: PLVAP was added
gene: PLVAP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PLVAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLVAP were set to 31215290; 29875123; 29661969; 26207260
Phenotypes for gene: PLVAP were set to Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Fetal anomalies v6.21 PIGW Arina Puzriakova gene: PIGW was added
gene: PIGW was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGW were set to 40180615
Phenotypes for gene: PIGW were set to Glycosylphosphatidylinositol biosynthesis defect 11
Fetal anomalies v6.21 PIGQ Arina Puzriakova gene: PIGQ was added
gene: PIGQ was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 24463883; 25558065; 31148362; 32588908
Phenotypes for gene: PIGQ were set to Multiple congenital anomalies-hypotonia-seizures syndrome 4
Fetal anomalies v6.21 PIGP Arina Puzriakova gene: PIGP was added
gene: PIGP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 32042915; 31139695
Phenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55
Fetal anomalies v6.21 PIGM Arina Puzriakova gene: PIGM was added
gene: PIGM was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 25293775; 16767100
Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency
Fetal anomalies v6.21 PIGC Arina Puzriakova gene: PIGC was added
gene: PIGC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGC were set to 32707268; 27694521
Phenotypes for gene: PIGC were set to Glycosylphosphatidylinositol biosynthesis defect 16
Fetal anomalies v6.21 PHF5A Arina Puzriakova gene: PHF5A was added
gene: PHF5A was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF5A were set to 33811463; 37422718
Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations
Fetal anomalies v6.21 PDCD2 Arina Puzriakova gene: PDCD2 was added
gene: PDCD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCD2 were set to 40208938
Phenotypes for gene: PDCD2 were set to hydrops fetalis and early pregnancy loss
Fetal anomalies v6.21 PAK2 Arina Puzriakova gene: PAK2 was added
gene: PAK2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 39994693; 40262506; 33693784; 38894571; 37808560; 39876536
Phenotypes for gene: PAK2 were set to Knobloch syndrome 2
Fetal anomalies v6.21 OSBPL9 Arina Puzriakova gene: OSBPL9 was added
gene: OSBPL9 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: OSBPL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSBPL9 were set to 40182349
Phenotypes for gene: OSBPL9 were set to Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex
Fetal anomalies v6.21 ODC1 Arina Puzriakova gene: ODC1 was added
gene: ODC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 40188065
Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome
Fetal anomalies v6.21 NT5E Arina Puzriakova gene: NT5E was added
gene: NT5E was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5E were set to 21288095; 32522903; 28825389; 26178434; 34999808; 27045881; 26010187
Phenotypes for gene: NT5E were set to arterial calcification; joint calcification
Fetal anomalies v6.21 NFASC Arina Puzriakova gene: NFASC was added
gene: NFASC was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 39891418
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction
Fetal anomalies v6.21 NEUROD1 Arina Puzriakova gene: NEUROD1 was added
gene: NEUROD1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 26773576; 10545951; 29521454; 26669242; 19609565; 20573748
Phenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6
Fetal anomalies v6.21 NEPRO Arina Puzriakova gene: NEPRO was added
gene: NEPRO was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 29620724; 31250547; 37294112; 26633546
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, OMIM:618853
Fetal anomalies v6.21 MYL2 Arina Puzriakova gene: MYL2 was added
gene: MYL2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MYL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL2 were set to 39831482
Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Fetal anomalies v6.21 MSL2 Arina Puzriakova gene: MSL2 was added
gene: MSL2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSL2 were set to 38815585; 33057194; 31332282
Phenotypes for gene: MSL2 were set to Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Fetal anomalies v6.21 MPL Arina Puzriakova gene: MPL was added
gene: MPL was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 39763161
Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopenia, congenital, 1
Fetal anomalies v6.21 MIA3 Arina Puzriakova gene: MIA3 was added
gene: MIA3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 40119123; 33778321
Phenotypes for gene: MIA3 were set to Odontochondrodysplasia-2 with hearing loss and diabetes
Fetal anomalies v6.21 MET Arina Puzriakova gene: MET was added
gene: MET was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to 30777867; 38429387
Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 1
Fetal anomalies v6.21 MED11 Arina Puzriakova gene: MED11 was added
gene: MED11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086; 39578696
Phenotypes for gene: MED11 were set to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Fetal anomalies v6.21 MAP3K3 Arina Puzriakova gene: MAP3K3 was added
gene: MAP3K3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K3 were set to 25728774
Phenotypes for gene: MAP3K3 were set to Cerebral cavernous malformations 5
Fetal anomalies v6.21 MAN2B2 Arina Puzriakova gene: MAN2B2 was added
gene: MAN2B2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 35637269; 31775018; 38622837
Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation type 1EE with or without immunodeficiency
Fetal anomalies v6.21 MAL Arina Puzriakova gene: MAL was added
gene: MAL was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAL were set to 35217805
Phenotypes for gene: MAL were set to ?Leukodystrophy, hypomyelinating, 28
Mode of pathogenicity for gene: MAL was set to Other
Fetal anomalies v6.21 LSS Arina Puzriakova gene: LSS was added
gene: LSS was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 39359128
Phenotypes for gene: LSS were set to Cataract 44; Alopecia-intellectual disability syndrome 4
Fetal anomalies v6.21 LRRC8C Arina Puzriakova gene: LRRC8C was added
gene: LRRC8C was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome
Fetal anomalies v6.21 LGI3 Arina Puzriakova gene: LGI3 was added
gene: LGI3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to 35948005
Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Fetal anomalies v6.21 LDB1 Arina Puzriakova gene: LDB1 was added
gene: LDB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB1 were set to 39680505
Phenotypes for gene: LDB1 were set to Congenital hydrocephalus, MONDO:0016349
Fetal anomalies v6.21 C12orf66 Arina Puzriakova gene: C12orf66 was added
gene: C12orf66 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf66 were set to 39824192
Phenotypes for gene: C12orf66 were set to Intellectual developmental disorder, autosomal recessive 83
Fetal anomalies v6.21 KDM6B Arina Puzriakova gene: KDM6B was added
gene: KDM6B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124270; 37196654
Phenotypes for gene: KDM6B were set to Stolerman neurodevelopmental syndrome, OMIM:618505
Fetal anomalies v6.21 KCNH2 Arina Puzriakova gene: KCNH2 was added
gene: KCNH2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to 36973673; 38094730; 39698424
Phenotypes for gene: KCNH2 were set to Short QT syndrome 1, OMIM:609620; Long QT syndrome 2, OMIM:613688
Fetal anomalies v6.21 KBTBD2 Arina Puzriakova gene: KBTBD2 was added
gene: KBTBD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 KAT7 Arina Puzriakova gene: KAT7 was added
gene: KAT7 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: KAT7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT7 were set to 40186013
Phenotypes for gene: KAT7 were set to Abnormal male external genitalia morphology; Tetralogy of Fallot
Fetal anomalies v6.21 JPH1 Arina Puzriakova gene: JPH1 was added
gene: JPH1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JPH1 were set to 39209426
Phenotypes for gene: JPH1 were set to Congenital myopathy-25
Fetal anomalies v6.21 IRF4 Arina Puzriakova gene: IRF4 was added
gene: IRF4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: IRF4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRF4 were set to 36917008; 36662884; 29537367; 29408330
Phenotypes for gene: IRF4 were set to Immunodeficiency 131
Fetal anomalies v6.21 HIRA Arina Puzriakova gene: HIRA was added
gene: HIRA was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 38511226
Phenotypes for gene: HIRA were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 HECTD1 Arina Puzriakova gene: HECTD1 was added
gene: HECTD1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HECTD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HECTD1 were set to 39879987; 38451291; 37165897
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 HDAC3 Arina Puzriakova gene: HDAC3 was added
gene: HDAC3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC3 were set to 39047730
Phenotypes for gene: HDAC3 were set to HDAC3-related neurodevelopmental disorder
Fetal anomalies v6.21 GUK1 Arina Puzriakova gene: GUK1 was added
gene: GUK1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21
Fetal anomalies v6.21 GNPNAT1 Arina Puzriakova gene: GNPNAT1 was added
gene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 39945447
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type
Fetal anomalies v6.21 GNAI2 Arina Puzriakova gene: GNAI2 was added
gene: GNAI2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI2 were set to 39298586
Phenotypes for gene: GNAI2 were set to Syndromic developmental disorder
Fetal anomalies v6.21 GEMIN4 Arina Puzriakova gene: GEMIN4 was added
gene: GEMIN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 39891418
Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Fetal anomalies v6.21 GDAP1 Arina Puzriakova gene: GDAP1 was added
gene: GDAP1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 39945447
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, type 4A
Fetal anomalies v6.21 FLII Arina Puzriakova gene: FLII was added
gene: FLII was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 37561591; 32870709
Phenotypes for gene: FLII were set to Cardiomyopathy, dilated, 2J
Fetal anomalies v6.21 FGG Arina Puzriakova gene: FGG was added
gene: FGG was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGG were set to 39891418
Phenotypes for gene: FGG were set to Afibrinogenemia, congenital; Hypofibrinogenemia, congenital
Fetal anomalies v6.21 FBXO22 Arina Puzriakova gene: FBXO22 was added
gene: FBXO22 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO22 were set to 40215970
Phenotypes for gene: FBXO22 were set to Tayoun-Maawali syndrome
Fetal anomalies v6.21 FAM177A1 Arina Puzriakova gene: FAM177A1 was added
gene: FAM177A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM177A1 were set to 38767059; 25558065
Phenotypes for gene: FAM177A1 were set to Neurodevelopmental disorder with white matter abnormalities and gait disturbance
Fetal anomalies v6.21 EXOC6B Arina Puzriakova gene: EXOC6B was added
gene: EXOC6B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 30284759; 36150098; 26669664
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Fetal anomalies v6.21 ERG Arina Puzriakova gene: ERG was added
gene: ERG was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERG were set to 36928819
Phenotypes for gene: ERG were set to Lymphatic malformation 14
Fetal anomalies v6.21 EFL1 Arina Puzriakova gene: EFL1 was added
gene: EFL1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987; 34115847; 29970384
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2
Fetal anomalies v6.21 EEFSEC Arina Puzriakova gene: EEFSEC was added
gene: EEFSEC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder with progressive spasticity and brain abnormalities
Fetal anomalies v6.21 DTNA Arina Puzriakova gene: DTNA was added
gene: DTNA was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DTNA were set to 36799992
Phenotypes for gene: DTNA were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
Fetal anomalies v6.21 DST Arina Puzriakova gene: DST was added
gene: DST was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 37431644
Phenotypes for gene: DST were set to Arthrogryposis multiplex congenita
Fetal anomalies v6.21 DSE Arina Puzriakova gene: DSE was added
gene: DSE was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSE were set to 31655143; 25703627; 23704329; 32130795
Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2
Fetal anomalies v6.21 DSC2 Arina Puzriakova gene: DSC2 was added
gene: DSC2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 40188065
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia, familial, 11
Fetal anomalies v6.21 DNAJC21 Arina Puzriakova gene: DNAJC21 was added
gene: DNAJC21 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3
Fetal anomalies v6.21 DHX9 Arina Puzriakova gene: DHX9 was added
gene: DHX9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37369308; 37467750
Phenotypes for gene: DHX9 were set to Intellectual developmental disorder, autosomal dominant 75
Fetal anomalies v6.21 DHRSX Arina Puzriakova gene: DHRSX was added
gene: DHRSX was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to Congenital disorder of glycosylation, type 1DD, OMIM:301133
Fetal anomalies v6.21 DDX17 Arina Puzriakova gene: DDX17 was added
gene: DDX17 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX17 were set to 39405200
Phenotypes for gene: DDX17 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 DAND5 Arina Puzriakova gene: DAND5 was added
gene: DAND5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAND5 were set to 36316122; 34215651
Phenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal
Fetal anomalies v6.21 CYP24A1 Arina Puzriakova gene: CYP24A1 was added
gene: CYP24A1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 28324001; 34307984; 22337913; 27105398
Phenotypes for gene: CYP24A1 were set to cystic kidney disease; hypercalcaemia; nephrocalcinosis
Fetal anomalies v6.21 CHAF1A Arina Puzriakova gene: CHAF1A was added
gene: CHAF1A was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CHAF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHAF1A were set to 39333427
Phenotypes for gene: CHAF1A were set to Oculo-auriculo-vertebral spectrum
Fetal anomalies v6.21 CFI Arina Puzriakova gene: CFI was added
gene: CFI was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFI were set to 39891418
Phenotypes for gene: CFI were set to Complement factor I deficiency
Fetal anomalies v6.21 CDK5 Arina Puzriakova gene: CDK5 was added
gene: CDK5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765; 40186457
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia
Fetal anomalies v6.21 CCT8 Arina Puzriakova gene: CCT8 was added
gene: CCT8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT8 were set to 39480921
Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities
Fetal anomalies v6.21 CCT6A Arina Puzriakova gene: CCT6A was added
gene: CCT6A was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT6A were set to 39480921
Phenotypes for gene: CCT6A were set to CCT6A-related neurodevelopmental disorder with or without brain abnormalities
Fetal anomalies v6.21 CCT3 Arina Puzriakova gene: CCT3 was added
gene: CCT3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
Fetal anomalies v6.21 CTGF Arina Puzriakova gene: CTGF was added
gene: CTGF was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTGF were set to 39506047; 12736220; 39414788
Phenotypes for gene: CTGF were set to Kyphomelic dysplasia
Fetal anomalies v6.21 BRD2 Arina Puzriakova gene: BRD2 was added
gene: BRD2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: BRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD2 were set to 40186013
Phenotypes for gene: BRD2 were set to Agenesis of corpus callosum
Fetal anomalies v6.21 BORCS8 Arina Puzriakova gene: BORCS8 was added
gene: BORCS8 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Fetal anomalies v6.21 BICRA Arina Puzriakova gene: BICRA was added
gene: BICRA was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Coffin-Siris syndrome 12
Fetal anomalies v6.21 BHLHE22 Arina Puzriakova gene: BHLHE22 was added
gene: BHLHE22 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 BAIAP2 Arina Puzriakova gene: BAIAP2 was added
gene: BAIAP2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAIAP2 were set to 38149472
Phenotypes for gene: BAIAP2 were set to Lissencephaly
Fetal anomalies v6.21 ARPC5 Arina Puzriakova gene: ARPC5 was added
gene: ARPC5 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC5 were set to 37349293; 37382373
Phenotypes for gene: ARPC5 were set to Immunodeficiency 113 with autoimmunity and autoinflammation
Fetal anomalies v6.21 ARL6IP1 Arina Puzriakova gene: ARL6IP1 was added
gene: ARL6IP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 39954331
Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, OMIM:615685
Fetal anomalies v6.21 ARL2BP Arina Puzriakova gene: ARL2BP was added
gene: ARL2BP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL2BP were set to 27790702; 36507858; 23849777; 38649918; 40384762
Phenotypes for gene: ARL2BP were set to Situs Inversus
Fetal anomalies v6.21 ACTN2 Arina Puzriakova gene: ACTN2 was added
gene: ACTN2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN2 were set to 39521787
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, hypertrophic, 23, with or without LVNC; Cardiomyopathy, dilated, 1AA, with or without LVNC; Congenital myopathy 8
Fetal anomalies v6.19 AGRN Arina Puzriakova Publications for gene: AGRN were set to 31730230
Fetal anomalies v6.15 LINC01082 Hannah Robinson gene: LINC01082 was added
gene: LINC01082 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: LINC01082 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
Phenotypes for gene: LINC01082 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Penetrance for gene: LINC01082 were set to Complete
Review for gene: LINC01082 was set to GREEN
gene: LINC01082 was marked as current diagnostic
Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele.
Sources: NHS GMS
Fetal anomalies v6.15 LINC01081 Hannah Robinson gene: LINC01081 was added
gene: LINC01081 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: LINC01081 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
Phenotypes for gene: LINC01081 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Penetrance for gene: LINC01081 were set to Complete
Review for gene: LINC01081 was set to GREEN
gene: LINC01081 was marked as current diagnostic
Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele.
Sources: NHS GMS
Fetal anomalies v6.14 PDE12 Achchuthan Shanmugasundram changed review comment from: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature; to: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

Of these, the patient from family 2 (died on day 2 after birth), and the two foetuses from family 3 had foetal anomalies detected via prenatal ultrasound. The patient from family 2 had brain anomalies. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses from family 3 and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.14 PDE12 Achchuthan Shanmugasundram gene: PDE12 was added
gene: PDE12 was added to Fetal anomalies. Sources: Literature
Q3_25_promote_green tags were added to gene: PDE12.
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to 39567835
Phenotypes for gene: PDE12 were set to mitochondrial disease, MONDO:0044970
Review for gene: PDE12 was set to GREEN
Added comment: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.11 MYH3 Arina Puzriakova Publications for gene: MYH3 were set to
Fetal anomalies v6.10 MYH3 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' at the next GMS panel update.

Monoallelic variants are associated with distal arthrogryposis conditions including Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Monoallelic and biallelic variants also underlie Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterised by extensive bony abnormalities in addition to congenital contractures. These features could be detected prenatally and therefore are relevant to this panel.

At least 3 unrelated recessive CPSFS cases have been reported with multiple contractures (PMID: 29805041). Additionally, two sibs from one family have been reported with distal arthrogryposis without additional features of CPSFS, who harboured two homozygous ultra-rare MYH3 variants (PMID: 38856159). Their presentation was assessed in a prenatal diagnostic setting. Overall this evidence supports an MOI of 'both mono- and biallelic' on this panel.
Fetal anomalies v6.9 GPKOW Eleanor Williams reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612833, 40221893; Phenotypes: syndromic disease, MONDO:0002254; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.8 FLVCR1 Eleanor Williams Publications for gene: FLVCR1 were set to
Fetal anomalies v5.96 C1orf127 Julia Baptista gene: C1orf127 was added
gene: C1orf127 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy
Review for gene: C1orf127 was set to GREEN
Added comment: OMIM entry now available for this gene and condition.
The HGNC approved gene name is CIROZ

Sixteen individuals from 10 independently ascertained families with Left-right anomalies with or without Congenital Heart Defects, consistent with Heterotaxy. Family 1 is of European ancestry, and families 9 and 10 are from Central America, while all remaining families were of Middle Eastern background and known to be consanguineous.

Of these 16 affected individuals, three were affected fetuses subjected to termination of pregnancy, and two died in the first year of life due to complex cardiac phenotypes.
Sources: Literature
Fetal anomalies v5.95 GPKOW Sarah Leigh Mode of inheritance for gene: GPKOW was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.94 GPKOW Sarah Leigh Publications for gene: GPKOW were set to 28612833
Fetal anomalies v5.91 SIRT6 Achchuthan Shanmugasundram Publications for gene: SIRT6 were set to
Fetal anomalies v5.89 LMNB2 Sarah Leigh Publications for gene: LMNB2 were set to 33033404
Fetal anomalies v5.86 DET1 Sarah Leigh Publications for gene: DET1 were set to 39937864
Fetal anomalies v5.85 DET1 Sarah Leigh gene: DET1 was added
gene: DET1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DET1 were set to 39937864
Phenotypes for gene: DET1 were set to neurological defects and lethality
Review for gene: DET1 was set to RED
Added comment: PMID: 39937864 reports a family where the three affected siblings were homozygous for a variant in DET1 (c.76C>T, p.R26W) and also for a variant in COMMD4 (c.122T>G; p.L41R). These genes are both on chromosome 15, separated by 13 Mb and are likely to co-segregate. The parents of these cases were healthy, heterozygous carriers of the DET1 p.R26W variant. The cases described developed lethal developmental abnormalities and the longest lived sib died at 8 months old. Extensive functional studies were reported in PMID: 39937864 and using Det1-
deficient mice and human-induced pluripotent stem cells (iPSCs) expressing DET1R26W,
the authors were able to show that DET1 is essential for normal neuronal development.
Sources: Literature
Fetal anomalies v5.82 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to 33502047
Fetal anomalies v5.78 SETD1A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SETD1A.
Tag Q1_25_ promote_green was removed from gene: SETD1A.
Fetal anomalies v5.78 ZRSR2 Achchuthan Shanmugasundram edited their review of gene: ZRSR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.78 ZFX Achchuthan Shanmugasundram edited their review of gene: ZFX: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.78 WDR44 Achchuthan Shanmugasundram edited their review of gene: WDR44: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.78 WBP4 Achchuthan Shanmugasundram edited their review of gene: WBP4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 USP14 Achchuthan Shanmugasundram commented on gene: USP14: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 UFSP2 Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TSHZ3 Achchuthan Shanmugasundram edited their review of gene: TSHZ3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TONSL Achchuthan Shanmugasundram edited their review of gene: TONSL: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TAF8 Achchuthan Shanmugasundram edited their review of gene: TAF8: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SNF8 Achchuthan Shanmugasundram edited their review of gene: SNF8: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SLC4A10 Achchuthan Shanmugasundram edited their review of gene: SLC4A10: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SLC34A1 Achchuthan Shanmugasundram edited their review of gene: SLC34A1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SETD1A Achchuthan Shanmugasundram edited their review of gene: SETD1A: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 SCYL2 Achchuthan Shanmugasundram edited their review of gene: SCYL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RSPO2 Achchuthan Shanmugasundram edited their review of gene: RSPO2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RRAGC Achchuthan Shanmugasundram edited their review of gene: RRAGC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RPL13 Achchuthan Shanmugasundram edited their review of gene: RPL13: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 RNU4-2 Achchuthan Shanmugasundram edited their review of gene: RNU4-2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RAB34 Achchuthan Shanmugasundram edited their review of gene: RAB34: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PUM1 Achchuthan Shanmugasundram edited their review of gene: PUM1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 PSMF1 Achchuthan Shanmugasundram edited their review of gene: PSMF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PLS3 Achchuthan Shanmugasundram edited their review of gene: PLS3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.78 PKDCC Achchuthan Shanmugasundram edited their review of gene: PKDCC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PIP5K1C Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PI4K2A Achchuthan Shanmugasundram edited their review of gene: PI4K2A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PAN2 Achchuthan Shanmugasundram edited their review of gene: PAN2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NUDT2 Achchuthan Shanmugasundram edited their review of gene: NUDT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NSUN6 Achchuthan Shanmugasundram edited their review of gene: NSUN6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 MAX Achchuthan Shanmugasundram edited their review of gene: MAX: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 MAP4K4 Achchuthan Shanmugasundram edited their review of gene: MAP4K4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 LNPK Achchuthan Shanmugasundram edited their review of gene: LNPK: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LAMB2 Achchuthan Shanmugasundram edited their review of gene: LAMB2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LAMA5 Achchuthan Shanmugasundram edited their review of gene: LAMA5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KIF5B Achchuthan Shanmugasundram edited their review of gene: KIF5B: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KIF26A Achchuthan Shanmugasundram edited their review of gene: KIF26A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KIF24 Achchuthan Shanmugasundram edited their review of gene: KIF24: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KDM2B Achchuthan Shanmugasundram edited their review of gene: KDM2B: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KDELR2 Achchuthan Shanmugasundram edited their review of gene: KDELR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KCNK9 Achchuthan Shanmugasundram commented on gene: KCNK9: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 INTS11 Achchuthan Shanmugasundram edited their review of gene: INTS11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 HECTD4 Achchuthan Shanmugasundram edited their review of gene: HECTD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 GON4L Achchuthan Shanmugasundram edited their review of gene: GON4L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FOSL2 Achchuthan Shanmugasundram edited their review of gene: FOSL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 FILIP1 Achchuthan Shanmugasundram edited their review of gene: FILIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FAS Achchuthan Shanmugasundram edited their review of gene: FAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.78 ERI1 Achchuthan Shanmugasundram edited their review of gene: ERI1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 EFCAB1 Achchuthan Shanmugasundram edited their review of gene: EFCAB1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DRG1 Achchuthan Shanmugasundram edited their review of gene: DRG1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DPYSL5 Achchuthan Shanmugasundram edited their review of gene: DPYSL5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 DLG5 Achchuthan Shanmugasundram edited their review of gene: DLG5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DDRGK1 Achchuthan Shanmugasundram edited their review of gene: DDRGK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DAW1 Achchuthan Shanmugasundram edited their review of gene: DAW1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CSGALNACT1 Achchuthan Shanmugasundram edited their review of gene: CSGALNACT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CNOT2 Achchuthan Shanmugasundram edited their review of gene: CNOT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 CEP295 Achchuthan Shanmugasundram edited their review of gene: CEP295: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CDK10 Achchuthan Shanmugasundram edited their review of gene: CDK10: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram edited their review of gene: CDH2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 CBY1 Achchuthan Shanmugasundram edited their review of gene: CBY1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CASP2 Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 C16orf62 Achchuthan Shanmugasundram edited their review of gene: C16orf62: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ATG7 Achchuthan Shanmugasundram edited their review of gene: ATG7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 AMOTL1 Achchuthan Shanmugasundram edited their review of gene: AMOTL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 AL117258.1 Achchuthan Shanmugasundram edited their review of gene: AL117258.1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ADD1 Achchuthan Shanmugasundram edited their review of gene: ADD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.78 ADAMTS15 Achchuthan Shanmugasundram edited their review of gene: ADAMTS15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ACBD6 Achchuthan Shanmugasundram edited their review of gene: ACBD6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 SETD1A Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.74 SETD1A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SETD1A.
Tag Q1_25_ promote_green tag was added to gene: SETD1A.
Fetal anomalies v5.58 SLC25A4 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Fetal anomalies v5.56 SETD1A Achchuthan Shanmugasundram Phenotypes for gene: SETD1A were changed from INTELLECTUAL DISABILITY; Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056 to Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056
Fetal anomalies v5.50 LRBA Achchuthan Shanmugasundram Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Fetal anomalies v5.16 SETD1A Achchuthan Shanmugasundram commented on gene: SETD1A
Fetal anomalies v5.15 ZFX Vicki Harrison reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38325380; Phenotypes: Intellectual developmental disorder, X-linked syndromic 37, MIM#301118; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 SPIN4 Sunayna Best reviewed gene: SPIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36927955; Phenotypes: Lui-Jee-Baron syndrome, MIM#301114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 SETD1A Stephanie Allen reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37000069; Phenotypes: Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM#619056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 PLS3 Sarah Graham reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24088043, 37751738, 29736964, 25209159, 32655496, 28777485, 29884797; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM#306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 COPB2 Elizabeth Scotchman reviewed gene: COPB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34450031, 29036432; Phenotypes: Microcephaly 19, primary, autosomal recessive, MIM#617800, Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM#619884; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 ALG13 Alice Gardham reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: 32681751; Phenotypes: Developmental and epileptic encephalopathy 36, MIM#300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.13 ZSCAN10 Achchuthan Shanmugasundram gene: ZSCAN10 was added
gene: ZSCAN10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZSCAN10 were set to 38386308
Phenotypes for gene: ZSCAN10 were set to Otofacial neurodevelopmental syndrome, OMIM:620910
Fetal anomalies v5.13 ZRSR2 Achchuthan Shanmugasundram gene: ZRSR2 was added
gene: ZRSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, OMIM:301132
Fetal anomalies v5.13 ZNF687 Achchuthan Shanmugasundram gene: ZNF687 was added
gene: ZNF687 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZNF687 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF687 were set to 26849110; 29493781
Phenotypes for gene: ZNF687 were set to Paget disease of bone 6, OMIM:616833
Fetal anomalies v5.13 ZMYND8 Achchuthan Shanmugasundram gene: ZMYND8 was added
gene: ZMYND8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related
Fetal anomalies v5.13 ZFX Achchuthan Shanmugasundram gene: ZFX was added
gene: ZFX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZFX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZFX were set to 38325380
Phenotypes for gene: ZFX were set to Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118
Fetal anomalies v5.13 XPNPEP3 Achchuthan Shanmugasundram gene: XPNPEP3 was added
gene: XPNPEP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 32660933; 20179356
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 OMIM:613159
Fetal anomalies v5.13 WISP3 Achchuthan Shanmugasundram gene: WISP3 was added
gene: WISP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Progressive pseudorheumatoid dysplasia, OMIM:208230
Fetal anomalies v5.13 WDR44 Achchuthan Shanmugasundram gene: WDR44 was added
gene: WDR44 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WDR44 were set to 38191484
Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related
Fetal anomalies v5.13 WBP4 Achchuthan Shanmugasundram gene: WBP4 was added
gene: WBP4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP4 were set to 37963460; 37425688
Phenotypes for gene: WBP4 were set to Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852
Fetal anomalies v5.13 VHL Achchuthan Shanmugasundram gene: VHL was added
gene: VHL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, OMIM:193300
Fetal anomalies v5.13 UNC45A Achchuthan Shanmugasundram gene: UNC45A was added
gene: UNC45A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45A were set to 29429573
Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, OMIM:619377
Fetal anomalies v5.13 UFSP2 Achchuthan Shanmugasundram gene: UFSP2 was added
gene: UFSP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UFSP2 were set to 28892125; 32755715; 33473208; 26428751
Phenotypes for gene: UFSP2 were set to Spondyloepimetaphyseal dysplasia, Di Rocco type, OMIM:617974; ?Hip dysplasia, Beukes type, OMIM:142669
Fetal anomalies v5.13 U2AF2 Achchuthan Shanmugasundram gene: U2AF2 was added
gene: U2AF2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 34112922; 37134193; 37092751; 36747105
Phenotypes for gene: U2AF2 were set to Developmental delay, dysmorphic facies, and brain anomalies OMIM:620535
Fetal anomalies v5.13 TYROBP Achchuthan Shanmugasundram gene: TYROBP was added
gene: TYROBP was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770
Fetal anomalies v5.13 TULP3 Achchuthan Shanmugasundram gene: TULP3 was added
gene: TULP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to 30799240; 36276950; 36460032; 35397207; 30799239
Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, OMIM:619902
Fetal anomalies v5.13 TSHZ3 Achchuthan Shanmugasundram gene: TSHZ3 was added
gene: TSHZ3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHZ3 were set to 36553458; 34919690; 39420202
Phenotypes for gene: TSHZ3 were set to Congenital anomaly of kidney and urinary tract
Fetal anomalies v5.13 TREM2 Achchuthan Shanmugasundram gene: TREM2 was added
gene: TREM2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193
Fetal anomalies v5.13 TONSL Achchuthan Shanmugasundram gene: TONSL was added
gene: TONSL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 32959051; 30773278; 30773277
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
Fetal anomalies v5.13 TOMM7 Achchuthan Shanmugasundram gene: TOMM7 was added
gene: TOMM7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to 36282599; 36299998
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601
Fetal anomalies v5.13 TNRC6B Achchuthan Shanmugasundram gene: TNRC6B was added
gene: TNRC6B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNRC6B were set to 29463886; 32152250
Phenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, OMIM:61924
Fetal anomalies v5.13 TNFSF11 Achchuthan Shanmugasundram gene: TNFSF11 was added
gene: TNFSF11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, OMIM:259710
Fetal anomalies v5.13 TAF8 Achchuthan Shanmugasundram gene: TAF8 was added
gene: TAF8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF8 were set to 39169228
Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972
Fetal anomalies v5.13 STX5 Achchuthan Shanmugasundram gene: STX5 was added
gene: STX5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to ?Congenital disorder of glycosylation, type IIaa, OMIM:620454
Fetal anomalies v5.13 SPIN4 Achchuthan Shanmugasundram gene: SPIN4 was added
gene: SPIN4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SPIN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SPIN4 were set to 36927955
Phenotypes for gene: SPIN4 were set to ?Lui-Jee-Baron syndrome, OMIM:301114
Fetal anomalies v5.13 SNUPN Achchuthan Shanmugasundram gene: SNUPN was added
gene: SNUPN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to 38413582; 38366623
Phenotypes for gene: SNUPN were set to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
Fetal anomalies v5.13 SNF8 Achchuthan Shanmugasundram gene: SNF8 was added
gene: SNF8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNF8 were set to 38423010
Phenotypes for gene: SNF8 were set to Neurodevelopmental disorder plus optic atrophy, OMIM:620784; Developmental and epileptic encephalopathy 115, OMIM:620783
Fetal anomalies v5.13 SLCO2A1 Achchuthan Shanmugasundram gene: SLCO2A1 was added
gene: SLCO2A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100; PHOAR2-enteropathy syndrome, OMIM:614441
Fetal anomalies v5.13 SLC4A10 Achchuthan Shanmugasundram gene: SLC4A10 was added
gene: SLC4A10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to 38054405; 37459438; 31130284
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
Fetal anomalies v5.13 SLC34A3 Achchuthan Shanmugasundram gene: SLC34A3 was added
gene: SLC34A3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria, OMIM:241530
Fetal anomalies v5.13 SLC34A1 Achchuthan Shanmugasundram gene: SLC34A1 was added
gene: SLC34A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC34A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC34A1 were set to 9560283; 12324554; 25050900
Phenotypes for gene: SLC34A1 were set to Infantile hypercalcemia-2, OMIM:616963
Fetal anomalies v5.13 SLC30A7 Achchuthan Shanmugasundram gene: SLC30A7 was added
gene: SLC30A7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A7 were set to 36821639
Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, OMIM:620501
Fetal anomalies v5.13 SIAH1 Achchuthan Shanmugasundram gene: SIAH1 was added
gene: SIAH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Buratti-Harel syndrome, OMIM:619314
Fetal anomalies v5.13 SH3BP2 Achchuthan Shanmugasundram gene: SH3BP2 was added
gene: SH3BP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism, OMIM:118400
Fetal anomalies v5.13 SGMS2 Achchuthan Shanmugasundram gene: SGMS2 was added
gene: SGMS2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 32028018; 30779713
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
Fetal anomalies v5.13 SFRP4 Achchuthan Shanmugasundram gene: SFRP4 was added
gene: SFRP4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFRP4 were set to 20174869; 27117872; 28100910; 22387305; 26273529; 27355534; 22965941; 24096177
Phenotypes for gene: SFRP4 were set to Pyle disease, OMIM:265900
Fetal anomalies v5.13 SETD1A Achchuthan Shanmugasundram Source NHS GMS was added to SETD1A.
Added phenotypes Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056 for gene: SETD1A
Publications for gene: SETD1A were updated from to 37000069
Fetal anomalies v5.13 SCYL2 Achchuthan Shanmugasundram gene: SCYL2 was added
gene: SCYL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 39138116; 39169672
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766
Fetal anomalies v5.13 RSPO2 Achchuthan Shanmugasundram gene: RSPO2 was added
gene: RSPO2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO2 were set to 29769720; 32457899
Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, OMIM:618021
Fetal anomalies v5.13 RRAGC Achchuthan Shanmugasundram gene: RRAGC was added
gene: RRAGC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGC were set to 27234373; 37057673
Phenotypes for gene: RRAGC were set to Long-Olsen syndrome, OMIM:620609
Fetal anomalies v5.13 RPL13 Achchuthan Shanmugasundram gene: RPL13 was added
gene: RPL13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728
Fetal anomalies v5.13 ROBO2 Achchuthan Shanmugasundram gene: ROBO2 was added
gene: ROBO2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO2 were set to 19350278; 17357069; 26026792; 29194579; 34059960; 18235093; 24429398
Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2, OMIM:610878
Fetal anomalies v5.13 RNU4-2 Achchuthan Shanmugasundram gene: RNU4-2 was added
gene: RNU4-2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 38821540; 38859706; 38991538
Phenotypes for gene: RNU4-2 were set to ReNU syndrome, OMIM:620851
Fetal anomalies v5.13 RINT1 Achchuthan Shanmugasundram gene: RINT1 was added
gene: RINT1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to 31204009
Phenotypes for gene: RINT1 were set to Infantile liver failure syndrome 3 OMIM:618641
Fetal anomalies v5.13 RASGRP2 Achchuthan Shanmugasundram gene: RASGRP2 was added
gene: RASGRP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 24958846; 18709451
Phenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18, OMIM:615888
Fetal anomalies v5.13 RAB34 Achchuthan Shanmugasundram gene: RAB34 was added
gene: RAB34 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to 37619988; 37384395
Phenotypes for gene: RAB34 were set to Orofaciodigital syndrome XX, OMIM:620718
Fetal anomalies v5.13 PUM1 Achchuthan Shanmugasundram gene: PUM1 was added
gene: PUM1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUM1 were set to 30903679; 29474920; 25768905; 35386260; 31859446
Phenotypes for gene: PUM1 were set to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, OMIM:620719
Fetal anomalies v5.13 PSMF1 Achchuthan Shanmugasundram gene: PSMF1 was added
gene: PSMF1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to 39148840
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Fetal anomalies v5.13 PSMC3 Achchuthan Shanmugasundram gene: PSMC3 was added
gene: PSMC3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMC3 were set to 37256937
Phenotypes for gene: PSMC3 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v5.13 PSMB9 Achchuthan Shanmugasundram gene: PSMB9 was added
gene: PSMB9 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PSMB9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMB9 were set to 33727065; 34819510
Phenotypes for gene: PSMB9 were set to Proteasome-associated autoinflammatory syndrome 6, OMIM:620796
Fetal anomalies v5.13 PRKG2 Achchuthan Shanmugasundram gene: PRKG2 was added
gene: PRKG2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 33106379; 34680883; 34782440
Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia 4, OMIM:619636; Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638
Fetal anomalies v5.13 PRKCSH Achchuthan Shanmugasundram gene: PRKCSH was added
gene: PRKCSH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCSH were set to 12577059; 24886261; 12529853
Phenotypes for gene: PRKCSH were set to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Fetal anomalies v5.13 PLS3 Achchuthan Shanmugasundram gene: PLS3 was added
gene: PLS3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PLS3 were set to 32655496; 28777485; 29736964; 37751738; 25209159; 29884797; 24088043
Phenotypes for gene: PLS3 were set to Diaphragmatic hernia 5, X-linked, OMIM:306950
Mode of pathogenicity for gene: PLS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 PKDCC Achchuthan Shanmugasundram gene: PKDCC was added
gene: PKDCC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to 19097194; 30478137
Phenotypes for gene: PKDCC were set to Rhizomelic limb shortening with dysmorphic features, OMIM:618821
Fetal anomalies v5.13 PISD Achchuthan Shanmugasundram gene: PISD was added
gene: PISD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 30488656; 3561949; 30858161; 31263216
Phenotypes for gene: PISD were set to Liberfarb syndrome, OMIM:618889
Fetal anomalies v5.13 PIP5K1C Achchuthan Shanmugasundram gene: PIP5K1C was added
gene: PIP5K1C was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIP5K1C were set to 38491417; 17701898
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, OMIM:611369
Fetal anomalies v5.13 PI4K2A Achchuthan Shanmugasundram gene: PI4K2A was added
gene: PI4K2A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 35880319; 32418222; 30564627
Phenotypes for gene: PI4K2A were set to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Fetal anomalies v5.13 PHLDB1 Achchuthan Shanmugasundram gene: PHLDB1 was added
gene: PHLDB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHLDB1 were set to 36543534
Phenotypes for gene: PHLDB1 were set to Osteogenesis imperfecta, type XXIII, OMIM:620639
Fetal anomalies v5.13 PAN2 Achchuthan Shanmugasundram gene: PAN2 was added
gene: PAN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to 35304602; 29620724
Phenotypes for gene: PAN2 were set to syndromic disease MONDO:0002254
Fetal anomalies v5.13 NUP214 Achchuthan Shanmugasundram gene: NUP214 was added
gene: NUP214 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128; 38179855; 30758658; 3965093
Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
Fetal anomalies v5.13 NUDT2 Achchuthan Shanmugasundram gene: NUDT2 was added
gene: NUDT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 38141063
Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844
Fetal anomalies v5.13 NSUN6 Achchuthan Shanmugasundram gene: NSUN6 was added
gene: NSUN6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN6 were set to 37226891
Phenotypes for gene: NSUN6 were set to Intellectual developmental disorder, autosomal recessive 82, OMIM:620779
Fetal anomalies v5.13 NPR3 Achchuthan Shanmugasundram gene: NPR3 was added
gene: NPR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR3 were set to 30032985; 10468599
Phenotypes for gene: NPR3 were set to Boudin-Mortier syndrome, OMIM:619543
Fetal anomalies v5.13 NPNT Achchuthan Shanmugasundram gene: NPNT was added
gene: NPNT was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to 34049960; 35246978; 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, MONDO:0018470, NPNT-related
Fetal anomalies v5.13 NARS Achchuthan Shanmugasundram gene: NARS was added
gene: NARS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092
Fetal anomalies v5.13 MMP2 Achchuthan Shanmugasundram gene: MMP2 was added
gene: MMP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP2 were set to 16542393
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, OMIM:259600
Fetal anomalies v5.13 MAX Achchuthan Shanmugasundram gene: MAX was added
gene: MAX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 38141607
Phenotypes for gene: MAX were set to Polydactyly-macrocephaly syndrome, OMIM:620712
Fetal anomalies v5.13 MAPKBP1 Achchuthan Shanmugasundram gene: MAPKBP1 was added
gene: MAPKBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, OMIM:617271
Fetal anomalies v5.13 MAP4K4 Achchuthan Shanmugasundram gene: MAP4K4 was added
gene: MAP4K4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP4K4 were set to 37126546
Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related
Fetal anomalies v5.13 LSM11 Achchuthan Shanmugasundram gene: LSM11 was added
gene: LSM11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to ?Aicardi-Goutieres syndrome 8, OMIM:619486
Fetal anomalies v5.13 LRRK1 Achchuthan Shanmugasundram gene: LRRK1 was added
gene: LRRK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRK1 were set to 32119750; 27829680; 27055475; 31571209
Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia, OMIM:615198
Fetal anomalies v5.13 LPIN2 Achchuthan Shanmugasundram gene: LPIN2 was added
gene: LPIN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 29912021
Phenotypes for gene: LPIN2 were set to Majeed syndrome, OMIM:609628
Fetal anomalies v5.13 LNPK Achchuthan Shanmugasundram gene: LNPK was added
gene: LNPK was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to 30032983; 35599435; 37794925
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Fetal anomalies v5.13 LAMB2 Achchuthan Shanmugasundram gene: LAMB2 was added
gene: LAMB2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 14136829; 15372515; 17256789
Phenotypes for gene: LAMB2 were set to Pierson syndrome, OMIM:609049
Fetal anomalies v5.13 LAMA5 Achchuthan Shanmugasundram gene: LAMA5 was added
gene: LAMA5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 32439764; 35584218; 35419533; 36714636; 37985485
Phenotypes for gene: LAMA5 were set to Nephrotic syndrome, type 26, OMIM:620049
Fetal anomalies v5.13 KIF5B Achchuthan Shanmugasundram gene: KIF5B was added
gene: KIF5B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to kyphomelic dysplasia, MONDO:0008881
Fetal anomalies v5.13 KIF26A Achchuthan Shanmugasundram gene: KIF26A was added
gene: KIF26A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to 36564622
Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156
Fetal anomalies v5.13 KIF24 Achchuthan Shanmugasundram gene: KIF24 was added
gene: KIF24 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF24 were set to 35748595
Phenotypes for gene: KIF24 were set to skeletal dysplasia, MONDO:0018230
Fetal anomalies v5.13 KDR Achchuthan Shanmugasundram gene: KDR was added
gene: KDR was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDR were set to 28991257; 34113005; 30232381
Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic, OMIM:602089
Fetal anomalies v5.13 KDM5A Achchuthan Shanmugasundram gene: KDM5A was added
gene: KDM5A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KDM5A were set to 33350388; 21937992
Phenotypes for gene: KDM5A were set to El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820
Fetal anomalies v5.13 KDM2B Achchuthan Shanmugasundram gene: KDM2B was added
gene: KDM2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to Neurodevelopmental disorder MONDO:0700092, KDM2B-related
Fetal anomalies v5.13 KDELR2 Achchuthan Shanmugasundram gene: KDELR2 was added
gene: KDELR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta, type XXI, OMIM:619131
Fetal anomalies v5.13 KCNN3 Achchuthan Shanmugasundram gene: KCNN3 was added
gene: KCNN3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to 31155282; 33594261
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658
Mode of pathogenicity for gene: KCNN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 KCNK3 Achchuthan Shanmugasundram gene: KCNK3 was added
gene: KCNK3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Mode of pathogenicity for gene: KCNK3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 INTS13 Achchuthan Shanmugasundram gene: INTS13 was added
gene: INTS13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS13 were set to 36229431
Phenotypes for gene: INTS13 were set to orofaciodigital syndrome, MONDO:0015375
Fetal anomalies v5.13 INTS11 Achchuthan Shanmugasundram gene: INTS11 was added
gene: INTS11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS11 were set to 37054711; 39030370
Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Fetal anomalies v5.13 IL1RN Achchuthan Shanmugasundram gene: IL1RN was added
gene: IL1RN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL1RN were set to 19494219; 19494218
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Fetal anomalies v5.13 IDH2 Achchuthan Shanmugasundram gene: IDH2 was added
gene: IDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH2 were set to 20847235; 38782764
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, OMIM:613657
Fetal anomalies v5.13 HECTD4 Achchuthan Shanmugasundram gene: HECTD4 was added
gene: HECTD4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Fetal anomalies v5.13 HEATR3 Achchuthan Shanmugasundram gene: HEATR3 was added
gene: HEATR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to 35213692
Phenotypes for gene: HEATR3 were set to Diamond-Blackfan anemia 21, OMIM:620072
Fetal anomalies v5.13 GTPBP1 Achchuthan Shanmugasundram gene: GTPBP1 was added
gene: GTPBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP1 were set to 38118446
Phenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888
Fetal anomalies v5.13 GPC4 Achchuthan Shanmugasundram gene: GPC4 was added
gene: GPC4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC4 were set to 9001804; 21567928; 30982611; 17726694; 12605449; 4708024; 18541962
Phenotypes for gene: GPC4 were set to Keipert syndrome, OMIM:301026
Fetal anomalies v5.13 GON4L Achchuthan Shanmugasundram gene: GON4L was added
gene: GON4L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 39500882
Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder, MONDO:0100038
Fetal anomalies v5.13 GALNT3 Achchuthan Shanmugasundram gene: GALNT3 was added
gene: GALNT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
Fetal anomalies v5.13 FRYL Achchuthan Shanmugasundram gene: FRYL was added
gene: FRYL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRYL were set to 38479391
Phenotypes for gene: FRYL were set to Neurodevelopmental disorder, MONDO:0700092, FRYL-related
Fetal anomalies v5.13 FOXI3 Achchuthan Shanmugasundram gene: FOXI3 was added
gene: FOXI3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FOXI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FOXI3 were set to 25655429; 36260083; 37041148
Phenotypes for gene: FOXI3 were set to Craniofacial microsomia 2, OMIM:620444
Fetal anomalies v5.13 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Fetal anomalies v5.13 FLCN Achchuthan Shanmugasundram gene: FLCN was added
gene: FLCN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to 19785621; 31266032
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, 135150; Pneumothorax, primary spontaneous, OMIM:173600
Fetal anomalies v5.13 FILIP1 Achchuthan Shanmugasundram gene: FILIP1 was added
gene: FILIP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452; 37163662
Phenotypes for gene: FILIP1 were set to Neuromuscular disorder, congenital, with dysmorphic facies, OMIM:620775
Fetal anomalies v5.13 FGF23 Achchuthan Shanmugasundram gene: FGF23 was added
gene: FGF23 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF23 were set to Tumoral calcinosis, hyperphosphatemic, familial, OMIM:6211900; Hypophosphatemic rickets, autosomal dominant, OMIM:6193100
Fetal anomalies v5.13 FGF16 Achchuthan Shanmugasundram gene: FGF16 was added
gene: FGF16 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF16 were set to 25333065; 24706454; 23709756
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, OMIM:309630
Fetal anomalies v5.13 FERMT3 Achchuthan Shanmugasundram gene: FERMT3 was added
gene: FERMT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT3 were set to 19064721; 19234460
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III OMIM:612840
Fetal anomalies v5.13 FAS Achchuthan Shanmugasundram gene: FAS was added
gene: FAS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FAS were set to 39384643
Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, OMIM:601859
Fetal anomalies v5.13 ERI1 Achchuthan Shanmugasundram gene: ERI1 was added
gene: ERI1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 36208065; 37352860; 28488351; 33942433
Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia, Guo-Campeau type, OMIM:620663; Hoxha-Aliu syndrome, OMIM:620662
Fetal anomalies v5.13 EMILIN1 Achchuthan Shanmugasundram gene: EMILIN1 was added
gene: EMILIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EMILIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMILIN1 were set to 14701737; 36351433
Phenotypes for gene: EMILIN1 were set to Arterial tortuosity-bone fragility syndrome, OMIM:620908
Fetal anomalies v5.13 EIF3B Achchuthan Shanmugasundram gene: EIF3B was added
gene: EIF3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EIF3B were set to Single kidney; Bilateral cleft lip and palate; Tetralogy of Fallot; Asplenia
Fetal anomalies v5.13 EFEMP1 Achchuthan Shanmugasundram gene: EFEMP1 was added
gene: EFEMP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP1 were set to 33807164; 17872905; 22489068; 32006683; 31792352
Phenotypes for gene: EFEMP1 were set to Cutis laxa, autosomal recessive, type ID, OMIM:620780
Fetal anomalies v5.13 EFCAB1 Achchuthan Shanmugasundram gene: EFCAB1 was added
gene: EFCAB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB1 were set to 36727596
Phenotypes for gene: EFCAB1 were set to Ciliary dyskinesia, primary, 53, OMIM:620642
Fetal anomalies v5.13 DVL2 Achchuthan Shanmugasundram gene: DVL2 was added
gene: DVL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL2 were set to 35047859; 33599851; 30521570
Phenotypes for gene: DVL2 were set to Robinow syndrome, MONDO:0019978
Fetal anomalies v5.13 DRG1 Achchuthan Shanmugasundram gene: DRG1 was added
gene: DRG1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRG1 were set to 37179472
Phenotypes for gene: DRG1 were set to Tan-Almurshedi syndrome, OMIM:620641
Fetal anomalies v5.13 DPYSL5 Achchuthan Shanmugasundram gene: DPYSL5 was added
gene: DPYSL5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Ritscher-Schinzel syndrome 4, OMIM:619435
Fetal anomalies v5.13 DOHH Achchuthan Shanmugasundram gene: DOHH was added
gene: DOHH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to 35858628
Phenotypes for gene: DOHH were set to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
Fetal anomalies v5.13 DLX3 Achchuthan Shanmugasundram gene: DLX3 was added
gene: DLX3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 26104267; 26762616
Phenotypes for gene: DLX3 were set to Amelogenesis imperfecta, type IV, OMIM:104510; Trichodontoosseous syndrome, OMIM:190320
Fetal anomalies v5.13 DLG5 Achchuthan Shanmugasundram gene: DLG5 was added
gene: DLG5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816; 30791088
Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauser syndrome, OMIM:620703
Fetal anomalies v5.13 DDRGK1 Achchuthan Shanmugasundram gene: DDRGK1 was added
gene: DDRGK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DDRGK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDRGK1 were set to 35670300; 35377455; 28263186; 36243336
Phenotypes for gene: DDRGK1 were set to Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557
Fetal anomalies v5.13 DAW1 Achchuthan Shanmugasundram gene: DAW1 was added
gene: DAW1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124; 28991257
Phenotypes for gene: DAW1 were set to Ciliary dyskinesia, primary, 52, OMIM:620570
Fetal anomalies v5.13 CYP2R1 Achchuthan Shanmugasundram gene: CYP2R1 was added
gene: CYP2R1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 28548312; 15128933
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency, OMIM:600081
Fetal anomalies v5.13 CYP27B1 Achchuthan Shanmugasundram gene: CYP27B1 was added
gene: CYP27B1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 34492747; 9486994; 27473561; 12050193; 9415400; 33823104
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I, OMIM:264700
Fetal anomalies v5.13 CUL3 Achchuthan Shanmugasundram gene: CUL3 was added
gene: CUL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures, OMIM:619239; Pseudohypoaldosteronism, type IIE, OMIM:614496
Fetal anomalies v5.13 CTSC Achchuthan Shanmugasundram gene: CTSC was added
gene: CTSC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 32601924; 14974080; 11106356; 10581027; 10662808
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, OMIM:245000; Haim-Munk syndrome, OMIM:245010
Fetal anomalies v5.13 CSMD1 Achchuthan Shanmugasundram gene: CSMD1 was added
gene: CSMD1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to 38816421
Phenotypes for gene: CSMD1 were set to Complex neurodevelopmental disorder, MONDO:0100038
Fetal anomalies v5.13 CSGALNACT1 Achchuthan Shanmugasundram gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, OMIM:618870
Fetal anomalies v5.13 COPB2 Achchuthan Shanmugasundram gene: COPB2 was added
gene: COPB2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 34450031; 29036432
Phenotypes for gene: COPB2 were set to ?Microcephaly 19, primary, autosomal recessive, OMIM:617800; Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884
Fetal anomalies v5.13 CNOT2 Achchuthan Shanmugasundram gene: CNOT2 was added
gene: CNOT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, OMIM:618608
Fetal anomalies v5.13 CEP295 Achchuthan Shanmugasundram gene: CEP295 was added
gene: CEP295 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP295 were set to 38154379
Phenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM:620767
Fetal anomalies v5.13 CELSR3 Achchuthan Shanmugasundram gene: CELSR3 was added
gene: CELSR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR3 were set to 38429302
Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder, MONDO:0700092, CELSR3-related
Fetal anomalies v5.13 CDK10 Achchuthan Shanmugasundram gene: CDK10 was added
gene: CDK10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 34974531; 28886341
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, OMIM:617694
Fetal anomalies v5.13 CDH2 Achchuthan Shanmugasundram gene: CDH2 was added
gene: CDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31650526; 31585109
Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
Fetal anomalies v5.13 CD40LG Achchuthan Shanmugasundram gene: CD40LG was added
gene: CD40LG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CD40LG were set to 8993019; 10228294; 14451053; 24631270; 35572607; 6605368; 9255191
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, OMIM:308230
Fetal anomalies v5.13 CBY1 Achchuthan Shanmugasundram gene: CBY1 was added
gene: CBY1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25220153; 25103236
Phenotypes for gene: CBY1 were set to Intellectual disability; Joubert syndrome; Cerebellar ataxia; Polydactyly; Molar tooth sign
Fetal anomalies v5.13 CASP2 Achchuthan Shanmugasundram gene: CASP2 was added
gene: CASP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 37880421
Phenotypes for gene: CASP2 were set to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
Fetal anomalies v5.13 CAPRIN1 Achchuthan Shanmugasundram gene: CAPRIN1 was added
gene: CAPRIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 35979925
Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782
Fetal anomalies v5.13 C1GALT1C1 Achchuthan Shanmugasundram gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: C1GALT1C1 were set to 36599939; 37216524
Phenotypes for gene: C1GALT1C1 were set to Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, OMIM:301110
Fetal anomalies v5.13 C16orf62 Achchuthan Shanmugasundram gene: C16orf62 was added
gene: C16orf62 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 36113987
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome 3, OMIM:619135
Fetal anomalies v5.13 AXIN1 Achchuthan Shanmugasundram gene: AXIN1 was added
gene: AXIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to 37582359
Phenotypes for gene: AXIN1 were set to Craniometadiaphyseal osteosclerosis with hip dysplasia, OMIM:620558
Fetal anomalies v5.13 ATG7 Achchuthan Shanmugasundram gene: ATG7 was added
gene: ATG7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 17726112; 16625205; 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
Fetal anomalies v5.13 ASCC3 Achchuthan Shanmugasundram gene: ASCC3 was added
gene: ASCC3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 35047834; 21937992
Phenotypes for gene: ASCC3 were set to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
Fetal anomalies v5.13 AMOTL1 Achchuthan Shanmugasundram gene: AMOTL1 was added
gene: AMOTL1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to 36751037
Phenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related
Mode of pathogenicity for gene: AMOTL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 ALG5 Achchuthan Shanmugasundram gene: ALG5 was added
gene: ALG5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG5 were set to 35896117
Phenotypes for gene: ALG5 were set to Polycystic kidney disease 7, OMIM:620056
Fetal anomalies v5.13 AL117258.1 Achchuthan Shanmugasundram gene: AL117258.1 was added
gene: AL117258.1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AL117258.1 were set to 34903892; 39513328
Phenotypes for gene: AL117258.1 were set to Heterotaxy, visceral, 12, autosomal, OMIM:619702
Fetal anomalies v5.13 ADD1 Achchuthan Shanmugasundram gene: ADD1 was added
gene: ADD1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADD1 were set to 34906466
Phenotypes for gene: ADD1 were set to Neurodevelopmental disorder, MONDO:0700092, ADD1-related
Fetal anomalies v5.13 ADAMTS15 Achchuthan Shanmugasundram gene: ADAMTS15 was added
gene: ADAMTS15 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis, distal, type 12, OMIM:620545
Fetal anomalies v5.13 ACBD6 Achchuthan Shanmugasundram gene: ACBD6 was added
gene: ACBD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 37951597; 36457943; 34296759
Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Fetal anomalies v5.9 ITGAV Achchuthan Shanmugasundram Publications for gene: ITGAV were set to 39526957
Fetal anomalies v5.8 ITGAV Achchuthan Shanmugasundram gene: ITGAV was added
gene: ITGAV was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to syndromic disease, MONDO:0002254
Review for gene: ITGAV was set to AMBER
Added comment: PMID:39526957 reported the identification of biallelic ITGAV variants in two unrelated patients and four foetuses from a third family. The two patients were reported with complex phenotype including global developmental delay, eye and brain abnormalities, inflammatory bowel disease and immune dysregulation. The four foetuses were reported with brain and skull abnormalities. There is also functional evidence in support of the association.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v5.6 CACHD1 Achchuthan Shanmugasundram gene: CACHD1 was added
gene: CACHD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACHD1 were set to 38158856
Phenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder, MONDO:0800439
Review for gene: CACHD1 was set to AMBER
Added comment: PMID:38158856 reported six affected individuals from four unrelated families with biallelic (either homozygous or compound heterozygous) CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant).

Of these, two cases from the fourth family are fetal cases. Excluding these two fatal cases, all others were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Cognitive impairment was reported to be mild in three cases from three different families, while the fourth case had no cognitive impairment. Psychomotor delay was reported in two unrelated cases and seizure was reported in one.

Facial dysmorphism and ear and genitourinary abnormalities were reported in the two fetal cases, while congenital malformations of the digestive tract was reported in one of them.

Functional evidence from human stem cell-derived neural models and zebrafish mutants are also available in support of the disease association.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v5.5 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074; 34089229; 30950035
Fetal anomalies v5.4 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074; 34089229; 30950035
Fetal anomalies v5.3 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074
Fetal anomalies v4.198 SIRT6 Dmitrijs Rots gene: SIRT6 was added
gene: SIRT6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIRT6 were set to PMID: 29555651
Penetrance for gene: SIRT6 were set to Complete
Review for gene: SIRT6 was set to GREEN
Added comment: The paper describes:"Here, we demonstrate that a homozygous inactivating mutation in the histone deacetylase SIRT6 results in severe congenital anomalies and perinatal lethality in four affected fetuses. " + functional data --> enough evidence for the green rating
Sources: Literature
Fetal anomalies v4.197 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram edited their review of gene: ZNF699: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram edited their review of gene: ZNF335: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram edited their review of gene: ZMIZ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram edited their review of gene: WDR4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram edited their review of gene: UBA2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram edited their review of gene: TRIM71: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram edited their review of gene: TP73: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram edited their review of gene: TOR1AIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram edited their review of gene: TMEM218: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram edited their review of gene: STT3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram edited their review of gene: SPTB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram edited their review of gene: SPINT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram edited their review of gene: SPEN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram edited their review of gene: SMAD2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram edited their review of gene: SEMA3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram edited their review of gene: RPL15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram edited their review of gene: RAD50: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram edited their review of gene: PTPN23: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram edited their review of gene: PRR12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram edited their review of gene: PRF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram edited their review of gene: PPP2R3C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram edited their review of gene: PPP2CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram edited their review of gene: PPIL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram edited their review of gene: PLEC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram edited their review of gene: PIGH: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram edited their review of gene: PIDD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram edited their review of gene: PDE3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram edited their review of gene: PCDH12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram edited their review of gene: NUP188: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram edited their review of gene: NONO: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram edited their review of gene: NFIB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram edited their review of gene: NFIA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram edited their review of gene: MPDZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram edited their review of gene: MINPP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram edited their review of gene: MED27: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram edited their review of gene: MCIDAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram edited their review of gene: MAPKAPK5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram edited their review of gene: MAN2C1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram edited their review of gene: MAB21L1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram edited their review of gene: LTBP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram edited their review of gene: KIF4A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram edited their review of gene: INTS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram edited their review of gene: HYAL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram edited their review of gene: HSPA9: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram edited their review of gene: HS2ST1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram edited their review of gene: HHAT: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram edited their review of gene: GTPBP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram edited their review of gene: GRM7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram edited their review of gene: GDF11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram edited their review of gene: FRA10AC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram edited their review of gene: FOXJ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram edited their review of gene: FBRSL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram edited their review of gene: FAT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram edited their review of gene: EXOC7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram edited their review of gene: ERGIC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram edited their review of gene: EFEMP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram edited their review of gene: EEF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram edited their review of gene: DYNC1I2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram edited their review of gene: DYNC1I1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram edited their review of gene: COA7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram edited their review of gene: CFAP52: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram edited their review of gene: CFAP45: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram edited their review of gene: CEP85L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram edited their review of gene: BRD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram edited their review of gene: ATN1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram edited their review of gene: ATAD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram edited their review of gene: APC2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram edited their review of gene: ALPK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram edited their review of gene: ALG14: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram edited their review of gene: ADCY6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.188 MYBBP1A Sarah Graham gene: MYBBP1A was added
gene: MYBBP1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBBP1A were set to 39191491; 28425981
Review for gene: MYBBP1A was set to GREEN
Added comment: Three fetuses have been reported with biallelic variants in MYBBP1A in association with oligohydramnios, cystic hygroma, pleural effusion, generalized hydrops, ascites, severe IUGR and skeletal anomalies (PMID 39191491;28425981).
Sources: Literature
Fetal anomalies v4.188 AIMP1 Natalie Bibb edited their review of gene: AIMP1: Changed publications to: 30486714, 32531460, 24958424, 33402283, 26173967, 21092922, 30477741; Set current diagnostic: yes
Fetal anomalies v4.185 SLC5A5 Achchuthan Shanmugasundram Publications for gene: SLC5A5 were set to
Fetal anomalies v4.172 ZFPM2 Achchuthan Shanmugasundram Publications for gene: ZFPM2 were set to 24702427
Fetal anomalies v4.169 UNC13D Achchuthan Shanmugasundram Publications for gene: UNC13D were set to 33249554
Fetal anomalies v4.165 TRAPPC11 Achchuthan Shanmugasundram Publications for gene: TRAPPC11 were set to
Fetal anomalies v4.162 SNAP29 Achchuthan Shanmugasundram Publications for gene: SNAP29 were set to 15968592; 21073448; 28388629
Fetal anomalies v4.159 RIN2 Achchuthan Shanmugasundram Publications for gene: RIN2 were set to
Fetal anomalies v4.156 RAD51C Achchuthan Shanmugasundram Publications for gene: RAD51C were set to
Fetal anomalies v4.153 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Fetal anomalies v4.151 PLOD3 Achchuthan Shanmugasundram Publications for gene: PLOD3 were set to 18834968; 33743358
Fetal anomalies v4.149 PLAA Achchuthan Shanmugasundram Publications for gene: PLAA were set to
Fetal anomalies v4.143 MITF Achchuthan Shanmugasundram Publications for gene: MITF were set to 27889061
Fetal anomalies v4.139 MED17 Achchuthan Shanmugasundram Publications for gene: MED17 were set to
Fetal anomalies v4.137 MAMLD1 Achchuthan Shanmugasundram Publications for gene: MAMLD1 were set to
Fetal anomalies v4.128 DOCK7 Achchuthan Shanmugasundram Publications for gene: DOCK7 were set to
Fetal anomalies v4.126 DNAJC19 Achchuthan Shanmugasundram Publications for gene: DNAJC19 were set to
Fetal anomalies v4.124 CTDP1 Achchuthan Shanmugasundram Publications for gene: CTDP1 were set to 24690360; 14517542; 20301787; 29174527
Fetal anomalies v4.122 CPAMD8 Achchuthan Shanmugasundram Publications for gene: CPAMD8 were set to
Fetal anomalies v4.120 CELSR1 Achchuthan Shanmugasundram Publications for gene: CELSR1 were set to
Fetal anomalies v4.118 CACNA1D Achchuthan Shanmugasundram Publications for gene: CACNA1D were set to 32410215
Fetal anomalies v4.116 ATP1A3 Achchuthan Shanmugasundram Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; RAPID-ONSET DYSTONIA-PARKINSONISM; Developmental and epileptic encephalopathy 99, OMIM:619606; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, OMIM:619606; Polymicrogyria
Fetal anomalies v4.113 AP4M1 Achchuthan Shanmugasundram Publications for gene: AP4M1 were set to
Fetal anomalies v4.112 AGT Achchuthan Shanmugasundram Publications for gene: AGT were set to 28976722
Fetal anomalies v4.110 AARS Achchuthan Shanmugasundram Publications for gene: AARS were set to
Fetal anomalies v4.109 ZMYM2 Achchuthan Shanmugasundram Publications for gene: ZMYM2 were set to
Fetal anomalies v4.107 WWOX Achchuthan Shanmugasundram Publications for gene: WWOX were set to
Fetal anomalies v4.105 TSEN15 Achchuthan Shanmugasundram Publications for gene: TSEN15 were set to
Fetal anomalies v4.101 TMTC3 Achchuthan Shanmugasundram Publications for gene: TMTC3 were set to
Fetal anomalies v4.99 THOC2 Achchuthan Shanmugasundram Publications for gene: THOC2 were set to
Fetal anomalies v4.85 PXDN Achchuthan Shanmugasundram Publications for gene: PXDN were set to
Fetal anomalies v4.83 PLPBP Achchuthan Shanmugasundram Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290
Fetal anomalies v4.82 PLPBP Achchuthan Shanmugasundram Publications for gene: PLPBP were set to
Fetal anomalies v4.79 PGAP1 Achchuthan Shanmugasundram Publications for gene: PGAP1 were set to
Fetal anomalies v4.77 OTUD6B Achchuthan Shanmugasundram Publications for gene: OTUD6B were set to
Fetal anomalies v4.70 KIDINS220 Achchuthan Shanmugasundram Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169
Fetal anomalies v4.68 JAM3 Achchuthan Shanmugasundram Publications for gene: JAM3 were set to
Fetal anomalies v4.66 IRX5 Achchuthan Shanmugasundram Publications for gene: IRX5 were set to
Fetal anomalies v4.64 HNRNPH2 Achchuthan Shanmugasundram Publications for gene: HNRNPH2 were set to
Fetal anomalies v4.62 HMX1 Achchuthan Shanmugasundram Publications for gene: HMX1 were set to
Fetal anomalies v4.60 GPX4 Achchuthan Shanmugasundram Publications for gene: GPX4 were set to
Fetal anomalies v4.57 GFRA1 Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to 33020172
Fetal anomalies v4.49 DEPDC5 Achchuthan Shanmugasundram Publications for gene: DEPDC5 were set to 32848577
Fetal anomalies v4.47 CCDC22 Achchuthan Shanmugasundram Publications for gene: CCDC22 were set to
Fetal anomalies v4.45 C12orf57 Achchuthan Shanmugasundram Publications for gene: C12orf57 were set to
Fetal anomalies v4.41 AP4S1 Achchuthan Shanmugasundram Publications for gene: AP4S1 were set to
Fetal anomalies v4.40 AP4B1 Achchuthan Shanmugasundram Publications for gene: AP4B1 were set to
Fetal anomalies v4.35 TBX22 Samantha Doyle reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: 22784330, 14729838, 17868388, 11559848, 12374769; Phenotypes: Abruzzo-Erickson syndrome, OMIM:302905, Cleft palate with ankyloglossia, OMIM:303400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 STAT3 Stephanie Allen reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31771449, 34366294, 30617622; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952, Hyper-IgE recurrent infection syndrome, OMIM:147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RLIM Anna de Burca reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, OMIM:300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 PPP1R13L Natalie Canham reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy, Cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLPBP Denise Williams reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 31741821, 30668673, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PHEX Esther Kinning reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: 9106524, 16055933, 19219621, 29791829; Phenotypes: Hypophosphatemic rickets, X-linked dominant, OMIM:307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 NONO Anna de Burca reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550220, 27329731, 32397791, 26571461; Phenotypes: Ebstein s anomaly, Pulmonary stenosis, Left ventricular non-compaction cardiomyopathy (LVNC), Mental retardation, X-linked, syndromic 34, MIM# 300967, Ventricular septal defect (VSD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 HNRNPH2 Stephanie Allen reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31236915, 30887513, 34907471, 31670473, 33728377; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 G6PD Denise Williams reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Glucose-6-phosphate dehydrogenase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 CYBB Achchuthan Shanmugasundram reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16795136, 33082562; Phenotypes: X-linked Chronic granulomatous disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.34 ZNHIT3 Achchuthan Shanmugasundram gene: ZNHIT3 was added
gene: ZNHIT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, OMIM:260565
Fetal anomalies v4.34 ZNF699 Achchuthan Shanmugasundram gene: ZNF699 was added
gene: ZNF699 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, OMIM:619488
Fetal anomalies v4.34 ZNF526 Achchuthan Shanmugasundram gene: ZNF526 was added
gene: ZNF526 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 33397746; 21937992; 25558065
Phenotypes for gene: ZNF526 were set to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
Fetal anomalies v4.34 ZNF335 Achchuthan Shanmugasundram gene: ZNF335 was added
gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 34982360; 29652087; 27540107
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, OMIM:615095
Fetal anomalies v4.34 ZMIZ1 Achchuthan Shanmugasundram gene: ZMIZ1 was added
gene: ZMIZ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322; 31879022
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659
Fetal anomalies v4.34 ZBTB24 Achchuthan Shanmugasundram gene: ZBTB24 was added
gene: ZBTB24 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 32061411; 29023266; 32865561; 22786748; 23739126; 28128455
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069
Fetal anomalies v4.34 YRDC Achchuthan Shanmugasundram gene: YRDC was added
gene: YRDC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YRDC were set to 31481669; 34545459
Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM:619609
Fetal anomalies v4.34 YIPF5 Achchuthan Shanmugasundram gene: YIPF5 was added
gene: YIPF5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Fetal anomalies v4.34 YIF1B Achchuthan Shanmugasundram gene: YIF1B was added
gene: YIF1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 26077767; 32006098
Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, OMIM:619125
Fetal anomalies v4.34 WDR4 Achchuthan Shanmugasundram gene: WDR4 was added
gene: WDR4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to 28617965; 26416026
Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346
Fetal anomalies v4.34 WDR37 Achchuthan Shanmugasundram gene: WDR37 was added
gene: WDR37 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to 31327508; 31327510
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome, OMIM:618652
Fetal anomalies v4.34 VPS4A Achchuthan Shanmugasundram gene: VPS4A was added
gene: VPS4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome, OMIM:619273
Fetal anomalies v4.34 UBR7 Achchuthan Shanmugasundram gene: UBR7 was added
gene: UBR7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome, OMIM:619189
Fetal anomalies v4.34 UBA2 Achchuthan Shanmugasundram gene: UBA2 was added
gene: UBA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to ACCES syndrome, OMIM:619959
Fetal anomalies v4.34 TUBGCP2 Achchuthan Shanmugasundram gene: TUBGCP2 was added
gene: TUBGCP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Fetal anomalies v4.34 TRRAP Achchuthan Shanmugasundram gene: TRRAP was added
gene: TRRAP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454
Fetal anomalies v4.34 TRNT1 Achchuthan Shanmugasundram gene: TRNT1 was added
gene: TRNT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 29055896; 33082562
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084
Fetal anomalies v4.34 TRIM71 Achchuthan Shanmugasundram gene: TRIM71 was added
gene: TRIM71 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM71 were set to 32168371; 29983323; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, OMIM:618667
Fetal anomalies v4.34 TPO Achchuthan Shanmugasundram gene: TPO was added
gene: TPO was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 30662777; 34220711
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A, OMIM:274500
Fetal anomalies v4.34 TP73 Achchuthan Shanmugasundram gene: TP73 was added
gene: TP73 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 34077761; 31130284
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466
Fetal anomalies v4.34 TOR1AIP1 Achchuthan Shanmugasundram gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 27342937; 24856141; 30723199; 32055997; 33215087; 31299614
Phenotypes for gene: TOR1AIP1 were set to congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
Fetal anomalies v4.34 TOP2B Achchuthan Shanmugasundram gene: TOP2B was added
gene: TOP2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296
Fetal anomalies v4.34 TNFRSF11A Achchuthan Shanmugasundram gene: TNFRSF11A was added
gene: TNFRSF11A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, OMIM:612301
Fetal anomalies v4.34 TMEM218 Achchuthan Shanmugasundram gene: TMEM218 was added
gene: TMEM218 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 25161209; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562
Fetal anomalies v4.34 TLK2 Achchuthan Shanmugasundram gene: TLK2 was added
gene: TLK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TLK2 were set to 34821460; 31558842; 29861108
Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57, OMIM:618050
Fetal anomalies v4.34 TG Achchuthan Shanmugasundram gene: TG was added
gene: TG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 28620499; 19169491; 18631008; 33832185; 12915634
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3, OMIM:274700
Fetal anomalies v4.34 TBX22 Achchuthan Shanmugasundram Source NHS GMS was added to TBX22.
Mode of inheritance for gene TBX22 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 for gene: TBX22
Publications for gene: TBX22 were updated from 22784330 to 22784330; 14729838; 17868388; 11559848; 12374769
Fetal anomalies v4.34 TBC1D1 Achchuthan Shanmugasundram gene: TBC1D1 was added
gene: TBC1D1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
Fetal anomalies v4.34 TAOK1 Achchuthan Shanmugasundram gene: TAOK1 was added
gene: TAOK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK1 were set to 31230721; 35091509; 33565190
Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575
Fetal anomalies v4.34 SYT2 Achchuthan Shanmugasundram gene: SYT2 was added
gene: SYT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to 30533528; 25192047; 32250532; 32776697
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461; Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Fetal anomalies v4.34 STT3B Achchuthan Shanmugasundram gene: STT3B was added
gene: STT3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3B were set to 33082562
Phenotypes for gene: STT3B were set to Congenital disorder of glycosylation, type Ix, OMIM:615597
Fetal anomalies v4.34 STT3A Achchuthan Shanmugasundram gene: STT3A was added
gene: STT3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 28424003; 30701557; 34653363; 23842455
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
Fetal anomalies v4.34 STK4 Achchuthan Shanmugasundram gene: STK4 was added
gene: STK4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868
Fetal anomalies v4.34 STIM1 Achchuthan Shanmugasundram gene: STIM1 was added
gene: STIM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 20876309; 31448844
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070
Fetal anomalies v4.34 STAT3 Achchuthan Shanmugasundram gene: STAT3 was added
gene: STAT3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 31771449; 34366294; 30617622
Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; Hyper-IgE recurrent infection syndrome, OMIM:147060
Fetal anomalies v4.34 SPTB Achchuthan Shanmugasundram gene: SPTB was added
gene: SPTB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTB were set to 33761640; 33082562; 35819869
Phenotypes for gene: SPTB were set to Elliptocytosis-3, OMIM:617948; Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948; Spherocytosis, type 2, OMIM:616649
Fetal anomalies v4.34 SPRED2 Achchuthan Shanmugasundram gene: SPRED2 was added
gene: SPRED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534; 36394128
Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, OMIM:619745
Fetal anomalies v4.34 SPINT2 Achchuthan Shanmugasundram gene: SPINT2 was added
gene: SPINT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 19185281; 24142340; 30445423; 20009592; 33374714; 33029133; 33547739
Phenotypes for gene: SPINT2 were set to congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Fetal anomalies v4.34 SPEN Achchuthan Shanmugasundram gene: SPEN was added
gene: SPEN was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, OMIM:619312
Fetal anomalies v4.34 SMARCD1 Achchuthan Shanmugasundram gene: SMARCD1 was added
gene: SMARCD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Coffin-Siris syndrome 11, OMIM:618779
Fetal anomalies v4.34 SMAD6 Achchuthan Shanmugasundram gene: SMAD6 was added
gene: SMAD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 22275001; 31138930; 32499606; 27606499
Phenotypes for gene: SMAD6 were set to {Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300
Fetal anomalies v4.34 SMAD2 Achchuthan Shanmugasundram gene: SMAD2 was added
gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 30157302; 29967133; 23665959
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657
Fetal anomalies v4.34 SHMT2 Achchuthan Shanmugasundram gene: SHMT2 was added
gene: SHMT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
Fetal anomalies v4.34 SF3B2 Achchuthan Shanmugasundram gene: SF3B2 was added
gene: SF3B2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B2 were set to 34344887; 37555391
Phenotypes for gene: SF3B2 were set to Craniofacial microsomia, OMIM:164210
Fetal anomalies v4.34 SEMA3A Achchuthan Shanmugasundram gene: SEMA3A was added
gene: SEMA3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 20301509; 22927827; 24124006; 33369061; 21059704; 28075028
Phenotypes for gene: SEMA3A were set to skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease
Fetal anomalies v4.34 SCNN1G Achchuthan Shanmugasundram gene: SCNN1G was added
gene: SCNN1G was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 31522814; 11231969; 8640238; 7633160
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126
Fetal anomalies v4.34 SCNN1B Achchuthan Shanmugasundram gene: SCNN1B was added
gene: SCNN1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, OMIM:264350
Fetal anomalies v4.34 SCNN1A Achchuthan Shanmugasundram gene: SCNN1A was added
gene: SCNN1A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to 8589714; 31301676
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, OMIM:264350
Fetal anomalies v4.34 SCN5A Achchuthan Shanmugasundram gene: SCN5A was added
gene: SCN5A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 19419784; 22064211; 15184283
Phenotypes for gene: SCN5A were set to {Sudden infant death syndrome, susceptibility to}, OMIM:272120; Long QT syndrome 3, OMIM:603830
Fetal anomalies v4.34 SCAF4 Achchuthan Shanmugasundram gene: SCAF4 was added
gene: SCAF4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Fliedner-Zweier syndrome, OMIM:620511
Fetal anomalies v4.34 RPL15 Achchuthan Shanmugasundram gene: RPL15 was added
gene: RPL15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 20301769; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, OMIM:615550; multiple congenital malformations; hydrops
Fetal anomalies v4.34 RNU12 Achchuthan Shanmugasundram gene: RNU12 was added
gene: RNU12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations; CDAGS syndrome, OMIM:603116
Fetal anomalies v4.34 RNF125 Achchuthan Shanmugasundram gene: RNF125 was added
gene: RNF125 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF125 were set to 25196541
Phenotypes for gene: RNF125 were set to Tenorio syndrome, OMIM:616260
Fetal anomalies v4.34 RNF113A Achchuthan Shanmugasundram gene: RNF113A was added
gene: RNF113A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Fetal anomalies v4.34 RLIM Achchuthan Shanmugasundram Source NHS GMS was added to RLIM.
Mode of inheritance for gene RLIM was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Tonne-Kalscheuer syndrome, OMIM:300978 for gene: RLIM
Publications for gene: RLIM were updated from to 29728705; 25735484; 25644381
Fetal anomalies v4.34 RHOA Achchuthan Shanmugasundram gene: RHOA was added
gene: RHOA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RHOA were set to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
Fetal anomalies v4.34 RHEB Achchuthan Shanmugasundram gene: RHEB was added
gene: RHEB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHEB were set to 29051493; 31337748
Phenotypes for gene: RHEB were set to Macrocephaly; Intellectual disability; Focal cortical dysplasia
Fetal anomalies v4.34 RBP4 Achchuthan Shanmugasundram gene: RBP4 was added
gene: RBP4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBP4 were set to 29178648; 25910211
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, OMIM:616428
Fetal anomalies v4.34 RAP1B Achchuthan Shanmugasundram gene: RAP1B was added
gene: RAP1B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to 26280580; 32627184
Phenotypes for gene: RAP1B were set to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654
Fetal anomalies v4.34 RAD50 Achchuthan Shanmugasundram gene: RAD50 was added
gene: RAD50 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 33378670; 32212377; 19409520
Phenotypes for gene: RAD50 were set to MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078
Fetal anomalies v4.34 PTPN23 Achchuthan Shanmugasundram gene: PTPN23 was added
gene: PTPN23 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065; 31395947; 27848944
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
Fetal anomalies v4.34 PRR12 Achchuthan Shanmugasundram gene: PRR12 was added
gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724; 33314030
Phenotypes for gene: PRR12 were set to Neuroocular syndrome, OMIM:619539; Complex microphthalmia
Fetal anomalies v4.34 PRF1 Achchuthan Shanmugasundram gene: PRF1 was added
gene: PRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anaemia, OMIM:609135; Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Fetal anomalies v4.34 PPP2R3C Achchuthan Shanmugasundram gene: PPP2R3C was added
gene: PPP2R3C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818
Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419
Fetal anomalies v4.34 PPP2CA Achchuthan Shanmugasundram gene: PPP2CA was added
gene: PPP2CA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354
Fetal anomalies v4.34 PPP1R13L Achchuthan Shanmugasundram gene: PPP1R13L was added
gene: PPP1R13L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28864777
Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Fetal anomalies v4.34 PPP1R12A Achchuthan Shanmugasundram gene: PPP1R12A was added
gene: PPP1R12A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R12A were set to 31883643
Phenotypes for gene: PPP1R12A were set to holoprosencephaly; disorder of sex development; Intellectual disability
Fetal anomalies v4.34 PPIL1 Achchuthan Shanmugasundram gene: PPIL1 was added
gene: PPIL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, OMIM:619301
Fetal anomalies v4.34 PLEC Achchuthan Shanmugasundram gene: PLEC was added
gene: PLEC was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 28824526; 31509265; 22144912; 21263134; 21109228; 20624679
Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
Fetal anomalies v4.34 PKP2 Achchuthan Shanmugasundram gene: PKP2 was added
gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP2 were set to 33082562
Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction
Fetal anomalies v4.34 PIGH Achchuthan Shanmugasundram gene: PIGH was added
gene: PIGH was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29603516; 29573052; 33156547; 35445667
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010
Fetal anomalies v4.34 PIDD1 Achchuthan Shanmugasundram gene: PIDD1 was added
gene: PIDD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 33414379; 28397838; 34163010; 29302074
Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
Fetal anomalies v4.34 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v4.34 PHEX Achchuthan Shanmugasundram gene: PHEX was added
gene: PHEX was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PHEX were set to 9106524; 16055933; 19219621; 29791829
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, OMIM:307800
Fetal anomalies v4.34 PDE6D Achchuthan Shanmugasundram gene: PDE6D was added
gene: PDE6D was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 30423442; 24166846
Phenotypes for gene: PDE6D were set to Joubert syndrome 22, OMIM:615665
Fetal anomalies v4.34 PDE3A Achchuthan Shanmugasundram gene: PDE3A was added
gene: PDE3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, OMIM:112410
Fetal anomalies v4.34 PCDH12 Achchuthan Shanmugasundram gene: PCDH12 was added
gene: PCDH12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 30178464; 27164683
Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280
Fetal anomalies v4.34 PAX1 Achchuthan Shanmugasundram gene: PAX1 was added
gene: PAX1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 23851939; 29681087; 32111619
Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, OMIM:615560
Fetal anomalies v4.34 PARP6 Achchuthan Shanmugasundram gene: PARP6 was added
gene: PARP6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to 34067418
Phenotypes for gene: PARP6 were set to Microcephaly; Intellectual disability; Epilepsy
Fetal anomalies v4.34 PAM16 Achchuthan Shanmugasundram gene: PAM16 was added
gene: PAM16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 27354339; 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320
Fetal anomalies v4.34 PACS2 Achchuthan Shanmugasundram gene: PACS2 was added
gene: PACS2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS2 were set to 29656858; 34894068; 34859793
Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66, OMIM:618067
Fetal anomalies v4.34 ORAI1 Achchuthan Shanmugasundram gene: ORAI1 was added
gene: ORAI1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 31448844
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883
Fetal anomalies v4.34 NUP188 Achchuthan Shanmugasundram gene: NUP188 was added
gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 28726809; 32021605; 32275884
Phenotypes for gene: NUP188 were set to microcephaly; ID; Sandestig-Stefanova syndrome, OMIM:618804; structural brain abnormalities; cataract
Fetal anomalies v4.34 NSRP1 Achchuthan Shanmugasundram gene: NSRP1 was added
gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001
Fetal anomalies v4.34 NSD2 Achchuthan Shanmugasundram gene: NSD2 was added
gene: NSD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 31171569; 30345613
Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, OMIM:619695
Fetal anomalies v4.34 NPRL3 Achchuthan Shanmugasundram gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118
Fetal anomalies v4.34 NPRL2 Achchuthan Shanmugasundram gene: NPRL2 was added
gene: NPRL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116
Fetal anomalies v4.34 NPL Achchuthan Shanmugasundram gene: NPL was added
gene: NPL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPL were set to 33082562
Phenotypes for gene: NPL were set to Sialic aciduria
Fetal anomalies v4.34 NONO Achchuthan Shanmugasundram Source NHS GMS was added to NONO.
Mode of inheritance for gene NONO was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 for gene: NONO
Publications for gene: NONO were updated from 31680349; 32397791 to 27329731; 32397791; 26571461; 31680349; 27550220
Fetal anomalies v4.34 NLRP3 Achchuthan Shanmugasundram gene: NLRP3 was added
gene: NLRP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 12928894; 12483741; 12032915
Phenotypes for gene: NLRP3 were set to CINCA syndrome, OMIM:607115
Fetal anomalies v4.34 NKX2-6 Achchuthan Shanmugasundram gene: NKX2-6 was added
gene: NKX2-6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-6 were set to 32198970; 15649947; 24421281; 25319568; 25380965
Phenotypes for gene: NKX2-6 were set to Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095
Fetal anomalies v4.34 NID1 Achchuthan Shanmugasundram gene: NID1 was added
gene: NID1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NID1 were set to 30773799; 12480912; 25558065; 23674478
Phenotypes for gene: NID1 were set to Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele
Fetal anomalies v4.34 NFIB Achchuthan Shanmugasundram gene: NFIB was added
gene: NFIB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402; 32902921; 33130023
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
Fetal anomalies v4.34 NFIA Achchuthan Shanmugasundram gene: NFIA was added
gene: NFIA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 32926563; 35018717; 36553517; 33973697
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, OMIM:613735
Fetal anomalies v4.34 NCAPD2 Achchuthan Shanmugasundram gene: NCAPD2 was added
gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to 27737959; 28097321; 31056748
Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM:617983
Fetal anomalies v4.34 MYSM1 Achchuthan Shanmugasundram gene: MYSM1 was added
gene: MYSM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 33082562
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, OMIM:618116
Fetal anomalies v4.34 MVK Achchuthan Shanmugasundram gene: MVK was added
gene: MVK was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807; 16722536
Phenotypes for gene: MVK were set to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Fetal anomalies v4.34 MTX2 Achchuthan Shanmugasundram gene: MTX2 was added
gene: MTX2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Fetal anomalies v4.34 MT-TL1 Achchuthan Shanmugasundram gene: MT-TL1 was added
gene: MT-TL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 33082562
Phenotypes for gene: MT-TL1 were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MT-TE Achchuthan Shanmugasundram gene: MT-TE was added
gene: MT-TE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 33082562; 17161635
Phenotypes for gene: MT-TE were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MPDZ Achchuthan Shanmugasundram gene: MPDZ was added
gene: MPDZ was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 29499638; 30518636; 23240096; 28556411
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Fetal anomalies v4.34 MNS1 Achchuthan Shanmugasundram gene: MNS1 was added
gene: MNS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 30148830; 31534215
Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948
Fetal anomalies v4.34 MINPP1 Achchuthan Shanmugasundram gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33168985; 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, OMIM:619527
Fetal anomalies v4.34 MED27 Achchuthan Shanmugasundram gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
Fetal anomalies v4.34 MED25 Achchuthan Shanmugasundram gene: MED25 was added
gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 32324310; 25792360; 32816121
Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.34 MCIDAS Achchuthan Shanmugasundram gene: MCIDAS was added
gene: MCIDAS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCIDAS were set to 25048963; 32802948; 30237576
Phenotypes for gene: MCIDAS were set to Hydrocephalus; Ciliary dyskinesia, primary, 42, OMIM:618695; Choroid plexus hyperplasia; Arachnoid cyst
Fetal anomalies v4.34 MBTPS1 Achchuthan Shanmugasundram gene: MBTPS1 was added
gene: MBTPS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, OMIM:618392
Fetal anomalies v4.34 MAST1 Achchuthan Shanmugasundram gene: MAST1 was added
gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657
Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827
Fetal anomalies v4.34 MAPKAPK5 Achchuthan Shanmugasundram gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 35575217; 33442026
Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869
Fetal anomalies v4.34 MAPK8IP3 Achchuthan Shanmugasundram gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30945334; 30612693
Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria
Fetal anomalies v4.34 MAPK1 Achchuthan Shanmugasundram gene: MAPK1 was added
gene: MAPK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13, OMIM:619087
Fetal anomalies v4.34 MAP1B Achchuthan Shanmugasundram gene: MAP1B was added
gene: MAP1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 33772511; 30150678; 31317654; 30214071
Phenotypes for gene: MAP1B were set to Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918
Fetal anomalies v4.34 MAN2C1 Achchuthan Shanmugasundram gene: MAN2C1 was added
gene: MAN2C1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to Congenital disorder of deglycosylation 2, MIM# 619775
Fetal anomalies v4.34 MAB21L1 Achchuthan Shanmugasundram gene: MAB21L1 was added
gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Fetal anomalies v4.34 LTBP1 Achchuthan Shanmugasundram gene: LTBP1 was added
gene: LTBP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE, OMIM:619451
Fetal anomalies v4.34 LAGE3 Achchuthan Shanmugasundram gene: LAGE3 was added
gene: LAGE3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 31069511; 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Fetal anomalies v4.34 KIF4A Achchuthan Shanmugasundram gene: KIF4A was added
gene: KIF4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KIF4A were set to 34346154; 30679815; 24812067
Phenotypes for gene: KIF4A were set to Hydrocephalus; Intellectual developmental disorder, X-linked 100, OMIM:300923
Fetal anomalies v4.34 KIF21B Achchuthan Shanmugasundram gene: KIF21B was added
gene: KIF21B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21B were set to 32415109
Phenotypes for gene: KIF21B were set to Global developmental delay; Neurodevelopmental disorder, MONDO:0700092; Intellectual disability; Abnormality of brain morphology; Microcephaly
Fetal anomalies v4.34 KIAA0825 Achchuthan Shanmugasundram gene: KIAA0825 was added
gene: KIAA0825 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0825 were set to 30982135; 32147526; 33776623
Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, OMIM:618498
Fetal anomalies v4.34 KIAA0556 Achchuthan Shanmugasundram gene: KIAA0556 was added
gene: KIAA0556 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 27245168; 26714646
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, OMIM:616784
Fetal anomalies v4.34 KAT5 Achchuthan Shanmugasundram gene: KAT5 was added
gene: KAT5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103
Fetal anomalies v4.34 IQCE Achchuthan Shanmugasundram gene: IQCE was added
gene: IQCE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 28488682; 31549751
Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 OMIM:617642
Fetal anomalies v4.34 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 31428919; 30622326
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857
Fetal anomalies v4.34 IKZF1 Achchuthan Shanmugasundram gene: IKZF1 was added
gene: IKZF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to 33082562
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, OMIM:616873
Fetal anomalies v4.34 IFT74 Achchuthan Shanmugasundram gene: IFT74 was added
gene: IFT74 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 32144365; 27486776; 33531668
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 22, OMIM:617119; Joubert syndrome 40, OMIM:619582
Fetal anomalies v4.34 IFT27 Achchuthan Shanmugasundram gene: IFT27 was added
gene: IFT27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 25443296; 24488770; 26763875; 30761183
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, OMIM:615996
Fetal anomalies v4.34 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 23172227; 28081210; 26515055; 34906488
Phenotypes for gene: HYAL2 were set to congenital cardiac malformations; Cleft lip and palate; cor triatriatum
Fetal anomalies v4.34 HSPA9 Achchuthan Shanmugasundram gene: HSPA9 was added
gene: HSPA9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 26491070; 32869452
Phenotypes for gene: HSPA9 were set to Anemia, sideroblastic, 4, OMIM:182170; Even-plus syndrome, OMIM:616854
Fetal anomalies v4.34 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies
Fetal anomalies v4.34 HOXA2 Achchuthan Shanmugasundram gene: HOXA2 was added
gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444
Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290
Fetal anomalies v4.34 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGB1 were set to 34164801
Phenotypes for gene: HMGB1 were set to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; intellectual disability; microcephaly
Fetal anomalies v4.34 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HK1 were set to 33082562
Phenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency, OMIM:235700; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Fetal anomalies v4.34 HHAT Achchuthan Shanmugasundram gene: HHAT was added
gene: HHAT was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989; 30912300; 24784881
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Fetal anomalies v4.34 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 26138117; 27108999; 26153217
Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011
Fetal anomalies v4.34 GTPBP2 Achchuthan Shanmugasundram gene: GTPBP2 was added
gene: GTPBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 29449720; 30790272; 26675814
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, OMIM:617988
Fetal anomalies v4.34 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
Fetal anomalies v4.34 GDF11 Achchuthan Shanmugasundram gene: GDF11 was added
gene: GDF11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122
Fetal anomalies v4.34 GATA5 Achchuthan Shanmugasundram gene: GATA5 was added
gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATA5 were set to 33082562
Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912
Fetal anomalies v4.34 G6PD Achchuthan Shanmugasundram gene: G6PD was added
gene: G6PD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: G6PD were set to 33082562
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), OMIM:300908
Fetal anomalies v4.34 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Fetal anomalies v4.34 FOXJ1 Achchuthan Shanmugasundram gene: FOXJ1 was added
gene: FOXJ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43, OMIM:618699
Fetal anomalies v4.34 FBXW11 Achchuthan Shanmugasundram gene: FBXW11 was added
gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW11 were set to 31402090
Phenotypes for gene: FBXW11 were set to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
Fetal anomalies v4.34 FBRSL1 Achchuthan Shanmugasundram gene: FBRSL1 was added
gene: FBRSL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618; 34805182
Phenotypes for gene: FBRSL1 were set to congenital heart defect; Congenital malformations
Fetal anomalies v4.34 FAT1 Achchuthan Shanmugasundram gene: FAT1 was added
gene: FAT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 34013115; 33418956; 34202629; 26905694; 32902815; 30862798
Phenotypes for gene: FAT1 were set to hand and foot anomalies; nephropathy; ocular anomalies; multiple congenital anomalies
Fetal anomalies v4.34 FAM149B1 Achchuthan Shanmugasundram gene: FAM149B1 was added
gene: FAM149B1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36, OMIM:618763
Fetal anomalies v4.34 EXOSC9 Achchuthan Shanmugasundram gene: EXOSC9 was added
gene: EXOSC9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 30690203; 33040083; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, OMIM:618065
Fetal anomalies v4.34 EXOSC8 Achchuthan Shanmugasundram gene: EXOSC8 was added
gene: EXOSC8 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 24989451; 34210538
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Fetal anomalies v4.34 EXOSC5 Achchuthan Shanmugasundram gene: EXOSC5 was added
gene: EXOSC5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576
Fetal anomalies v4.34 EXOC7 Achchuthan Shanmugasundram gene: EXOC7 was added
gene: EXOC7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC7 were set to 32103185
Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072
Fetal anomalies v4.34 ERGIC1 Achchuthan Shanmugasundram gene: ERGIC1 was added
gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Fetal anomalies v4.34 ERBB3 Achchuthan Shanmugasundram gene: ERBB3 was added
gene: ERBB3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17701904; 31752936; 33720042
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, OMIM:607598
Fetal anomalies v4.34 EIF3F Achchuthan Shanmugasundram gene: EIF3F was added
gene: EIF3F was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 33736665
Phenotypes for gene: EIF3F were set to Intellectual developmental disorder, autosomal recessive 67, OMIM:618295
Fetal anomalies v4.34 EFEMP2 Achchuthan Shanmugasundram gene: EFEMP2 was added
gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 19664000; 23532871; 31548410; 30140196
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Fetal anomalies v4.34 EEF2 Achchuthan Shanmugasundram gene: EEF2 was added
gene: EEF2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephalus; Neurodevelopmental disorder; macrocephaly
Fetal anomalies v4.34 EDN3 Achchuthan Shanmugasundram gene: EDN3 was added
gene: EDN3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to 9359047; 27370713; 11303518; 10231870; 8630502; 30171849
Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, OMIM:209880; Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Fetal anomalies v4.34 DYNC1I2 Achchuthan Shanmugasundram gene: DYNC1I2 was added
gene: DYNC1I2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Fetal anomalies v4.34 DYNC1I1 Achchuthan Shanmugasundram gene: DYNC1I1 was added
gene: DYNC1I1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1I1 were set to 32219838; 25231166; 22914741
Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)
Fetal anomalies v4.34 DLL1 Achchuthan Shanmugasundram gene: DLL1 was added
gene: DLL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709
Fetal anomalies v4.34 DICER1 Achchuthan Shanmugasundram gene: DICER1 was added
gene: DICER1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DICER1 were set to 35114704; 29343557; 33208384; 31232238; 27960159; 24676357; 26227654
Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic, OMIM:618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800; Pleuropulmonary blastoma, OMIM:601200
Fetal anomalies v4.34 D2HGDH Achchuthan Shanmugasundram gene: D2HGDH was added
gene: D2HGDH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, OMIM:600721
Fetal anomalies v4.34 CYBB Achchuthan Shanmugasundram gene: CYBB was added
gene: CYBB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CYBB were set to 16795136; 33082562
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, OMIM:306400
Fetal anomalies v4.34 CWF19L1 Achchuthan Shanmugasundram gene: CWF19L1 was added
gene: CWF19L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 27016154
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127
Fetal anomalies v4.34 CTNNA2 Achchuthan Shanmugasundram gene: CTNNA2 was added
gene: CTNNA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Fetal anomalies v4.34 COLGALT1 Achchuthan Shanmugasundram gene: COLGALT1 was added
gene: COLGALT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLGALT1 were set to 31759980; 30412317; 33709034
Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, MIM# 618360
Fetal anomalies v4.34 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503
Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155
Fetal anomalies v4.34 COA7 Achchuthan Shanmugasundram gene: COA7 was added
gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387
Fetal anomalies v4.34 CITED2 Achchuthan Shanmugasundram gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 16287139; 29536580; 33706167; 31515672; 11694877; 33439552
Phenotypes for gene: CITED2 were set to Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease
Fetal anomalies v4.34 CFAP52 Achchuthan Shanmugasundram gene: CFAP52 was added
gene: CFAP52 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 33139725; 25469542
Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607
Fetal anomalies v4.34 CFAP45 Achchuthan Shanmugasundram gene: CFAP45 was added
gene: CFAP45 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608
Fetal anomalies v4.34 CEP85L Achchuthan Shanmugasundram gene: CEP85L was added
gene: CEP85L was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant, OMIM:618873
Fetal anomalies v4.34 CAPN15 Achchuthan Shanmugasundram gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Fetal anomalies v4.34 C2orf69 Achchuthan Shanmugasundram gene: C2orf69 was added
gene: C2orf69 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 33945503; 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Fetal anomalies v4.34 BRF1 Achchuthan Shanmugasundram gene: BRF1 was added
gene: BRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 27748960; 25561519
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, OMIM:616202
Fetal anomalies v4.34 BRD4 Achchuthan Shanmugasundram gene: BRD4 was added
gene: BRD4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD4 were set to 34035299; 30302754; 29379197; 11997514
Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome 6, OMIM:620568
Fetal anomalies v4.34 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, OMIM:619641
Fetal anomalies v4.34 ATP11C Achchuthan Shanmugasundram gene: ATP11C was added
gene: ATP11C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP11C were set to 33082562
Phenotypes for gene: ATP11C were set to ?Hemolytic anemia, congenital, X-linked, OMIM:301015
Fetal anomalies v4.34 ATN1 Achchuthan Shanmugasundram gene: ATN1 was added
gene: ATN1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498; 34212383
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Fetal anomalies v4.34 ATAD1 Achchuthan Shanmugasundram gene: ATAD1 was added
gene: ATAD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 29390050; 29659736; 28180185
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, OMIM:618011
Fetal anomalies v4.34 ARL3 Achchuthan Shanmugasundram gene: ARL3 was added
gene: ARL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:618161
Fetal anomalies v4.34 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARF1 were set to 28868155; 34353862
Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, OMIM:618185
Fetal anomalies v4.34 APC2 Achchuthan Shanmugasundram gene: APC2 was added
gene: APC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677
Fetal anomalies v4.34 ANKRD17 Achchuthan Shanmugasundram gene: ANKRD17 was added
gene: ANKRD17 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to multiple congenital malformations; Chopra-Amiel-Gordon syndrome, OMIM:619504
Fetal anomalies v4.34 ANKLE2 Achchuthan Shanmugasundram gene: ANKLE2 was added
gene: ANKLE2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKLE2 were set to 31735666; 25259927; 30214071
Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, OMIM:616681
Fetal anomalies v4.34 ALPK3 Achchuthan Shanmugasundram gene: ALPK3 was added
gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950; 28630369
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Fetal anomalies v4.34 ALG14 Achchuthan Shanmugasundram gene: ALG14 was added
gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036
Fetal anomalies v4.34 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 36263470
Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025
Fetal anomalies v4.34 ALB Achchuthan Shanmugasundram gene: ALB was added
gene: ALB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALB were set to 31057599; 15300429; 23730173
Phenotypes for gene: ALB were set to Analbuminemia, OMIM:616000
Fetal anomalies v4.34 ADCY6 Achchuthan Shanmugasundram gene: ADCY6 was added
gene: ADCY6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 33820833; 26257172; 24319099; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM:616287; MONDO:0014570
Fetal anomalies v4.34 ADAMTS19 Achchuthan Shanmugasundram gene: ADAMTS19 was added
gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321; 32323311
Phenotypes for gene: ADAMTS19 were set to Cardiac valvular dysplasia 2, OMIM:620067
Fetal anomalies v4.34 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34866177; 34489854; 34587489
Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, OMIM:619735
Fetal anomalies v4.32 GATA1 Sarah Leigh gene: GATA1 was added
gene: GATA1 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180; 33082562; 20301538; 30914438; 29949202; 35580337
Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
Fetal anomalies v4.29 DCC Achchuthan Shanmugasundram Publications for gene: DCC were set to
Fetal anomalies v4.26 FZD6 Sarah Leigh Publications for gene: FZD6 were set to
Fetal anomalies v4.24 ANGPT2 Sarah Leigh gene: ANGPT2 was added
gene: ANGPT2 was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 32908006; 34876502
Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.22 USP14 Achchuthan Shanmugasundram Publications for gene: USP14 were set to 38469793
Fetal anomalies v4.18 MDFIC Achchuthan Shanmugasundram Publications for gene: MDFIC were set to PMID: 35235341
Fetal anomalies v4.13 KCNK9 Achchuthan Shanmugasundram Publications for gene: KCNK9 were set to PMID: 36307859
Fetal anomalies v4.10 GNB2 Achchuthan Shanmugasundram Publications for gene: GNB2 were set to 36658419
Fetal anomalies v4.5 ARV1 Achchuthan Shanmugasundram Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Fetal anomalies v4.3 GNB2 Sarah Graham gene: GNB2 was added
gene: GNB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 36658419
Mode of pathogenicity for gene: GNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNB2 was set to GREEN
Added comment: Gene associated with autosomal dominant neurodevelopmental disorder; features include dysmorphic facial features, cardiac and renal abnormalities (OMIM #619503). Recurrent de novo pathogenic missense variant p.(Lys89Glu) (https://www.ncbi.nlm.nih.gov/clinvar/variation/1217306/) reported in a fetus with phenotype consistent with this gene: cardiac abnormalities (hypoplastic left heart and hypoplastic aortic arch, double outlet right ventricle, great arteries located side-by-side, ventricular septal defect, persistent left superior vena cava connecting to coronary sinus), renal agenesis, mildly dysmorphic facies (Byrne 2023 PMID: 36658419).
Sources: Literature
Fetal anomalies v4.3 CLCN5 Sarah Graham gene: CLCN5 was added
gene: CLCN5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLCN5 were set to 36307859; 36495297; 37229200
Review for gene: CLCN5 was set to RED
Added comment: Loss-of-function variants associated with X-linked recessive renal tubular disorders. Maternally inherited hemizygous splice variant, c.934-1G>T, reported in 3 male fetuses with variable phenotypes across 3 studies from the same centre. Phenotypes in reported cases: polyhydramnios and large size for gestational age (Fu 2022 PMID: 36307859, case 229); growth restriction, polyhydramnios, pre-term birth at 31 weeks (Zhou 2023 PMID: 36495297, patient 5); microcephaly (Wang 2023 PMID: 37229200, patient 18). No definitive evidence that this variant is pathogenic. As all prenatal reports are of the same variant and from the same centre, concern that these may be incidental findings due to variant frequency in the local population (variant absent from gnomAD).
Sources: Literature
Fetal anomalies v4.3 ARV1 Sarah Graham gene: ARV1 was added
gene: ARV1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Review for gene: ARV1 was set to AMBER
Added comment: Biallelic loss-of-function variants associated with autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Biallelic variants reported prenatally in 3 families (4 fetuses) in association with abnormal scan findings, particularly renal abnormalities. Renal abnormalities are not a common postnatal finding in this disorder, so causal relationship to scan findings is unclear.

Salian 2021 PMID: 34296759, patient 3 - compound heterozygous frameshift and missense variants, p.(Pro174Alafs*14) and p.(Cys34Tyr), with prenatal hydronephrosis, postnatally profound ID, seizures, genitourinary abnormalities. Salian 2021 PMID: 34296759, Patients 5/6 (successive pregnancies of consanguineous parents) - homozygous c.674-1G>A; patient 5 termination at week 22 due to megaureter, small femora and humeri and narrow thorax; patient 6 NT 6.3 mm at week 14, bilaterally dilated renal pelvis at week 16+1. Fu 2022 PMID: 36307859 - compound het frameshift variants, p.(Glu137Asnfs*13) and p.(Pro174Alafs*14), reported in a fetus with dilation of lateral ventricles and polyhydramnios.
Sources: Literature
Fetal anomalies v4.3 KCNK9 Sarah Graham gene: KCNK9 was added
gene: KCNK9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNK9 were set to PMID: 36307859
Review for gene: KCNK9 was set to GREEN
Added comment: The recurrent p.(Gly236Arg) variant is well established as the cause of KCNK9 Imprinting Syndrome / Birk-Barel Syndrome (OMIM #612292) when present on the maternal allele. This variant has been reported as a de novo finding on exome sequencing in a fetus with scan findings consistent with this disorder (micrognathia, cleft palate). PMID: 36307859
Sources: Literature
Fetal anomalies v4.1 MDFIC Dmitrijs Rots gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to conducting lymphatic anomaly with lymphedema
Review for gene: MDFIC was set to GREEN
Added comment: Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating.
Sources: Literature
Fetal anomalies v4.1 CELSR1 Stephanie Allen changed review comment from: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.; to: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.
Fetal anomalies v3.157 USP14 Zornitza Stark gene: USP14 was added
gene: USP14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to 38469793
Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related
Review for gene: USP14 was set to AMBER
Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations.
Sources: Literature
Fetal anomalies v3.156 PLD1 Arina Puzriakova commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel:

Jesse Hayesmoore (Oxford Regional Genetics Laboratory)
Red List (low evidence)

"On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.

I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.

Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines."
Created: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m
Fetal anomalies v3.150 RRAS Sarah Leigh Publications for gene: RRAS were set to
Fetal anomalies v3.149 NRXN2 Sarah Leigh Publications for gene: NRXN2 were set to
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880; 29194579; 35227688
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880
Fetal anomalies v3.134 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942
Fetal anomalies v3.122 KMT2B Arina Puzriakova Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia
Fetal anomalies v3.117 ESAM Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813
Fetal anomalies v3.114 FAM111A Sarah Leigh Publications for gene: FAM111A were set to
Fetal anomalies v3.111 CLCN4 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v3.111 SCUBE3 Sarah Leigh edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 KDM5C Sarah Leigh reviewed gene: KDM5C: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 CLCN4 Sarah Leigh reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.110 KDM5C Sarah Leigh Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.109 ESAM Julia Baptista gene: ESAM was added
gene: ESAM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to PMID: 36996813
Phenotypes for gene: ESAM were set to intracranial hemorrhage; cerebral anomalies
Review for gene: ESAM was set to GREEN
Added comment: Four fetuses from three unrelated families (different LOF biallelic variants) with fetal intracranial hemorrhage. Fetal brain tissue from one of the affected individuals at 31 weeks' gestational age showed lack of ESAM staining in the capillary endothelial cells, thus confirming loss of ESAM. Another individual had an abnormal prenatal ultrasound and the pregnancy was terminated at 32 weeks' gestation, but no DNA was available to test for the familial variant.
Neurodevelopmental disorder with cerebral calcifications, hydrocephalus, focal white matter lesions, retina anomalies and dysmorphic features.
Sources: Literature
Fetal anomalies v3.104 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to
Fetal anomalies v3.97 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Fetal anomalies v3.95 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Fetal anomalies v3.92 EN1 Eleanor Williams gene: EN1 was added
gene: EN1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Fetal anomalies v3.90 ETFB Sarah Leigh Publications for gene: ETFB were set to
Fetal anomalies v3.87 COASY Sarah Leigh Publications for gene: COASY were set to
Fetal anomalies v3.86 PRKACB Arina Puzriakova gene: PRKACB was added
gene: PRKACB was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_23_promote_green tags were added to gene: PRKACB.
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2, OMIM:619143
Penetrance for gene: PRKACB were set to unknown
Mode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v3.85 PRKACA Arina Puzriakova gene: PRKACA was added
gene: PRKACA was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_23_promote_green tags were added to gene: PRKACA.
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759; 31130284
Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1, OMIM:619142
Fetal anomalies v3.82 GRIN2B Arina Puzriakova Publications for gene: GRIN2B were set to
Fetal anomalies v3.74 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416; 33031641
Fetal anomalies v3.71 AGTR1 Arina Puzriakova Publications for gene: AGTR1 were set to
Fetal anomalies v3.69 MECOM Arina Puzriakova Publications for gene: MECOM were set to
Fetal anomalies v3.68 WARS2 Arina Puzriakova Publications for gene: WARS2 were set to
Fetal anomalies v3.67 VARS2 Arina Puzriakova Publications for gene: VARS2 were set to
Fetal anomalies v3.66 UQCRFS1 Arina Puzriakova Publications for gene: UQCRFS1 were set to
Fetal anomalies v3.65 UQCC2 Arina Puzriakova Publications for gene: UQCC2 were set to
Fetal anomalies v3.64 TXN2 Arina Puzriakova Publications for gene: TXN2 were set to
Fetal anomalies v3.63 TRMU Arina Puzriakova Publications for gene: TRMU were set to
Fetal anomalies v3.62 TRIT1 Arina Puzriakova Publications for gene: TRIT1 were set to
Fetal anomalies v3.61 TMEM65 Arina Puzriakova Publications for gene: TMEM65 were set to
Fetal anomalies v3.60 SUCLA2 Arina Puzriakova Publications for gene: SUCLA2 were set to
Fetal anomalies v3.59 SLC25A46 Arina Puzriakova Publications for gene: SLC25A46 were set to
Fetal anomalies v3.58 SLC25A1 Arina Puzriakova Publications for gene: SLC25A1 were set to
Fetal anomalies v3.57 SFXN4 Arina Puzriakova Publications for gene: SFXN4 were set to
Fetal anomalies v3.56 SDHD Arina Puzriakova Publications for gene: SDHD were set to
Fetal anomalies v3.54 RMND1 Arina Puzriakova Publications for gene: RMND1 were set to
Fetal anomalies v3.53 QRSL1 Arina Puzriakova Publications for gene: QRSL1 were set to
Fetal anomalies v3.51 POLG Arina Puzriakova Publications for gene: POLG were set to
Fetal anomalies v3.50 PNPLA8 Arina Puzriakova Publications for gene: PNPLA8 were set to
Fetal anomalies v3.48 PET100 Arina Puzriakova Publications for gene: PET100 were set to
Fetal anomalies v3.46 PDHX Arina Puzriakova Publications for gene: PDHX were set to
Fetal anomalies v3.43 PC Arina Puzriakova Publications for gene: PC were set to
Fetal anomalies v3.42 NDUFV2 Arina Puzriakova Publications for gene: NDUFV2 were set to
Fetal anomalies v3.40 NDUFS1 Arina Puzriakova Publications for gene: NDUFS1 were set to
Fetal anomalies v3.39 NDUFC2 Arina Puzriakova Publications for gene: NDUFC2 were set to
Fetal anomalies v3.38 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to
Fetal anomalies v3.37 NDUFB3 Arina Puzriakova Publications for gene: NDUFB3 were set to
Fetal anomalies v3.34 NDUFAF8 Arina Puzriakova Publications for gene: NDUFAF8 were set to
Fetal anomalies v3.33 NDUFA6 Arina Puzriakova Publications for gene: NDUFA6 were set to
Fetal anomalies v3.32 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to
Fetal anomalies v3.31 NADK2 Arina Puzriakova Publications for gene: NADK2 were set to
Fetal anomalies v3.30 MTPAP Arina Puzriakova Publications for gene: MTPAP were set to
Fetal anomalies v3.29 MTFMT Arina Puzriakova Publications for gene: MTFMT were set to
Fetal anomalies v3.28 MRPS14 Arina Puzriakova Publications for gene: MRPS14 were set to
Fetal anomalies v3.27 MPC2 Arina Puzriakova Publications for gene: MPC2 were set to
Fetal anomalies v3.26 MPC1 Arina Puzriakova Publications for gene: MPC1 were set to
Fetal anomalies v3.25 IBA57 Arina Puzriakova Publications for gene: IBA57 were set to
Fetal anomalies v3.24 GFM2 Arina Puzriakova Publications for gene: GFM2 were set to
Fetal anomalies v3.23 GATB Arina Puzriakova Publications for gene: GATB were set to
Fetal anomalies v3.22 ECHS1 Arina Puzriakova Publications for gene: ECHS1 were set to
Fetal anomalies v3.21 EARS2 Arina Puzriakova Publications for gene: EARS2 were set to
Fetal anomalies v3.20 DNA2 Arina Puzriakova Publications for gene: DNA2 were set to
Fetal anomalies v3.19 DGUOK Arina Puzriakova Publications for gene: DGUOK were set to
Fetal anomalies v3.17 DARS2 Arina Puzriakova Publications for gene: DARS2 were set to
Fetal anomalies v3.16 COX14 Arina Puzriakova Publications for gene: COX14 were set to
Fetal anomalies v3.15 COQ7 Arina Puzriakova Publications for gene: COQ7 were set to
Fetal anomalies v3.14 COA6 Arina Puzriakova Publications for gene: COA6 were set to
Fetal anomalies v3.13 C1QBP Arina Puzriakova Publications for gene: C1QBP were set to 32304219
Fetal anomalies v3.12 C19orf70 Arina Puzriakova Publications for gene: C19orf70 were set to
Fetal anomalies v3.11 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Fetal anomalies v3.9 AARS2 Arina Puzriakova Publications for gene: AARS2 were set to 30819764
Fetal anomalies v3.8 CLCN4 Stephanie Allen reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Raynaud-Claes syndrome, OMIM:300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.8 NDUFB11 Stephanie Allen reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.7 ZMYM2 Arina Puzriakova gene: ZMYM2 was added
gene: ZMYM2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522
Fetal anomalies v3.7 AGTR1 Arina Puzriakova gene: AGTR1 was added
gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, OMIM:267430
Fetal anomalies v3.7 CLCN4 Arina Puzriakova gene: CLCN4 was added
gene: CLCN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome, OMIM:300114
Fetal anomalies v3.7 TRMU Arina Puzriakova gene: TRMU was added
gene: TRMU was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, OMIM:613070
Fetal anomalies v3.7 SDHD Arina Puzriakova gene: SDHD was added
gene: SDHD was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167
Fetal anomalies v3.7 NDUFA12 Arina Puzriakova gene: NDUFA12 was added
gene: NDUFA12 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Fetal anomalies v3.7 WARS2 Arina Puzriakova gene: WARS2 was added
gene: WARS2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710
Fetal anomalies v3.7 VARS2 Arina Puzriakova gene: VARS2 was added
gene: VARS2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM:615917
Fetal anomalies v3.7 UQCRFS1 Arina Puzriakova gene: UQCRFS1 was added
gene: UQCRFS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRFS1 were set to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Fetal anomalies v3.7 UQCC2 Arina Puzriakova gene: UQCC2 was added
gene: UQCC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Fetal anomalies v3.7 TXN2 Arina Puzriakova gene: TXN2 was added
gene: TXN2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXN2 were set to ?Combined oxidative phosphorylation deficiency 29 , OMIM:616811
Fetal anomalies v3.7 TRIT1 Arina Puzriakova gene: TRIT1 was added
gene: TRIT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, OMIM:617873
Fetal anomalies v3.7 TMEM65 Arina Puzriakova gene: TMEM65 was added
gene: TMEM65 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM65 were set to TMEM65 related mitochondrial encephalopmyopathy
Fetal anomalies v3.7 SUCLA2 Arina Puzriakova gene: SUCLA2 was added
gene: SUCLA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Fetal anomalies v3.7 SLC25A46 Arina Puzriakova gene: SLC25A46 was added
gene: SLC25A46 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Pontocerebellar hypoplasia, type 1E, OMIM:619303
Fetal anomalies v3.7 SLC25A1 Arina Puzriakova gene: SLC25A1 was added
gene: SLC25A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182
Fetal anomalies v3.7 SFXN4 Arina Puzriakova gene: SFXN4 was added
gene: SFXN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, OMIM:615578
Fetal anomalies v3.7 QRSL1 Arina Puzriakova gene: QRSL1 was added
gene: QRSL1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QRSL1 were set to Combined oxidative phosphorylation deficiency 40, OMIM:618835
Fetal anomalies v3.7 PNPLA8 Arina Puzriakova gene: PNPLA8 was added
gene: PNPLA8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
Fetal anomalies v3.7 NDUFV2 Arina Puzriakova gene: NDUFV2 was added
gene: NDUFV2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Fetal anomalies v3.7 NDUFC2 Arina Puzriakova gene: NDUFC2 was added
gene: NDUFC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170
Fetal anomalies v3.7 NDUFB7 Arina Puzriakova gene: NDUFB7 was added
gene: NDUFB7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB7 were set to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v3.7 NDUFB3 Arina Puzriakova gene: NDUFB3 was added
gene: NDUFB3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Fetal anomalies v3.7 NDUFAF8 Arina Puzriakova gene: NDUFAF8 was added
gene: NDUFAF8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Fetal anomalies v3.7 NDUFA6 Arina Puzriakova gene: NDUFA6 was added
gene: NDUFA6 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
Fetal anomalies v3.7 NADK2 Arina Puzriakova gene: NADK2 was added
gene: NADK2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Fetal anomalies v3.7 MTPAP Arina Puzriakova gene: MTPAP was added
gene: MTPAP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, OMIM:613672
Fetal anomalies v3.7 MTFMT Arina Puzriakova gene: MTFMT was added
gene: MTFMT was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, OMIM:614947; Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248
Fetal anomalies v3.7 MRPS14 Arina Puzriakova gene: MRPS14 was added
gene: MRPS14 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
Fetal anomalies v3.7 MPC2 Arina Puzriakova gene: MPC2 was added
gene: MPC2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPC2 were set to Mitochondrial pyruvate carrier deficiency
Fetal anomalies v3.7 MPC1 Arina Puzriakova gene: MPC1 was added
gene: MPC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Fetal anomalies v3.7 IBA57 Arina Puzriakova gene: IBA57 was added
gene: IBA57 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Fetal anomalies v3.7 GFM2 Arina Puzriakova gene: GFM2 was added
gene: GFM2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM2 were set to Combined oxidative phosphorylation deficiency 39, OMIM:618397
Fetal anomalies v3.7 GATB Arina Puzriakova gene: GATB was added
gene: GATB was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATB were set to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Fetal anomalies v3.7 ECHS1 Arina Puzriakova gene: ECHS1 was added
gene: ECHS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Fetal anomalies v3.7 EARS2 Arina Puzriakova gene: EARS2 was added
gene: EARS2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, OMIM:614924
Fetal anomalies v3.7 DNA2 Arina Puzriakova gene: DNA2 was added
gene: DNA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807
Fetal anomalies v3.7 DGUOK Arina Puzriakova gene: DGUOK was added
gene: DGUOK was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070; Portal hypertension, noncirrhotic, 1, OMIM:617068
Fetal anomalies v3.7 COX14 Arina Puzriakova gene: COX14 was added
gene: COX14 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053
Fetal anomalies v3.7 COQ7 Arina Puzriakova gene: COQ7 was added
gene: COQ7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733
Fetal anomalies v3.7 COA6 Arina Puzriakova gene: COA6 was added
gene: COA6 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA6 were set to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Fetal anomalies v3.7 C19orf70 Arina Puzriakova gene: C19orf70 was added
gene: C19orf70 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, OMIM:618329
Fetal anomalies v3.7 ATP5O Arina Puzriakova gene: ATP5O was added
gene: ATP5O was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency
Fetal anomalies v3.6 CDX2 Arina Puzriakova Publications for gene: CDX2 were set to PMID: 34671974
Fetal anomalies v3.3 KIF21A Arina Puzriakova Publications for gene: KIF21A were set to 34740919
Fetal anomalies v3.1 AARS2 Patrick Campbell gene: AARS2 was added
gene: AARS2 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 30819764
Phenotypes for gene: AARS2 were set to fetal hydrops; polyhydramnios; pulmonary effusion; cardiomyopathy
Penetrance for gene: AARS2 were set to Complete
Mode of pathogenicity for gene: AARS2 was set to Other
Review for gene: AARS2 was set to GREEN
Added comment: This gene is not on R21. It can cause fetal phenotype and early neonatal death with bi-allelic variants. We had a fetus present locally with fetal hydrops from around 28 weeks. The result was discovered on whole genome sequencing after miscarriage (R14). It would not have been identified on R21 for fetal anomalies. The local finding of presentation antenatally is corroborated by recent publication (PMID 30819764) with a case showing polyhydramnios and nonimmune hydrops, with small pulmonary effusions and significant ascites first detected at 35 wk of pregnancy.
Consideration should be given to adding the gene to R21.
Sources: NHS GMS
Fetal anomalies v2.14 PLXND1 Achchuthan Shanmugasundram gene: PLXND1 was added
gene: PLXND1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXND1 were set to 35396997
Phenotypes for gene: PLXND1 were set to Truncus arteriosus, HP:0001660
Review for gene: PLXND1 was set to GREEN
Added comment: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles.

This gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM.
Sources: Literature
Fetal anomalies v2.10 SETD2 Arina Puzriakova Tag Q3_22_rating was removed from gene: SETD2.
Tag Q3_22_NHS_review was removed from gene: SETD2.
Fetal anomalies v2.10 WNT7B Arina Puzriakova edited their review of gene: WNT7B: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 SETD2 Arina Puzriakova edited their review of gene: SETD2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 RAC3 Arina Puzriakova edited their review of gene: RAC3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 MTM1 Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 DMPK Arina Puzriakova edited their review of gene: DMPK: Added comment: The rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.; Changed rating: RED
Fetal anomalies v2.10 AP1S2 Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.9 SETD2 Arina Puzriakova Source Expert Review Green was added to SETD2.
Source NHS GMS was added to SETD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 MTM1 Arina Puzriakova Source NHS GMS was added to MTM1.
Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v2.9 AP1S2 Arina Puzriakova Source NHS GMS was added to AP1S2.
Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v2.8 KIF21A Hannah Robinson gene: KIF21A was added
gene: KIF21A was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF21A were set to 34740919
Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia
Penetrance for gene: KIF21A were set to unknown
Review for gene: KIF21A was set to GREEN
gene: KIF21A was marked as current diagnostic
Added comment: Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms.

Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth.

Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association.
Sources: Literature, NHS GMS
Fetal anomalies v1.989 KDM5C Arina Puzriakova Publications for gene: KDM5C were set to
Fetal anomalies v1.988 KDM5C Arina Puzriakova Added comment: Comment on mode of inheritance: A subset of female carriers have been shown to have impaired intellectual development and/or developmental delay (PMIDs: 10982473; 16538222; 18697827; 19826449; 21575681; 32279304) showing that females can be symptomatic.

Therefore, the MOI should be updated from 'X-linked.. biallelic in females' to 'X-linked.. monoallelic in females may cause disease' at the next GMS panel update. This also reflects the current MOI on all other relevant panels.
Fetal anomalies v1.979 GNAS Sarah Leigh Added comment: Comment on mode of inheritance: Disease causing variants in the GNAS locus have differing expression panels. Pseudohypothyroidism Ia, Ib & Ic are all caused by GNAS variants arising in the maternal alleles, therefore, the mode of inheritance (MOI) for GNAS in these conditions should be monoallelic maternally imprinted. Pseudopseudohypoparathyroidism, OMIM:612463 and Osseous heteroplasia, progressive, OMIM:166350 are associated with variants in the paternal alleles therefore, the mode of inheritance for GNAS in these conditions should be monoallelic paternally imprinted. Because the Fetal anomalies panel is representing various phenotypes, the MOI has been set to monoallelic, imprinted status unknown.
Fetal anomalies v1.977 AP1S2 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease).
Fetal anomalies v1.973 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556
Fetal anomalies v1.971 RAX Sarah Leigh Publications for gene: RAX were set to
Fetal anomalies v1.970 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to
Fetal anomalies v1.968 SETD2 Arina Puzriakova Classified gene: SETD2 as Amber List (moderate evidence)
Fetal anomalies v1.968 SETD2 Arina Puzriakova Gene: setd2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.967 SETD2 Arina Puzriakova Mode of pathogenicity for gene: SETD2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v1.966 SETD2 Arina Puzriakova Phenotypes for gene: SETD2 were changed from SETD2-associated Overgrowth Syndrome to microcephaly; profound intellectual disability; congenital anomalies; dysmorphic facial features
Fetal anomalies v1.965 SETD2 Arina Puzriakova Publications for gene: SETD2 were set to
Fetal anomalies v1.964 SETD2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: SETD2.
Tag Q3_22_NHS_review tag was added to gene: SETD2.
Fetal anomalies v1.964 SETD2 Rhiannon Mellis reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 32710489, 33255631; Phenotypes: microcephaly, profound intellectual disability, congenital anomalies, dysmorphic facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.963 UNC13D Arina Puzriakova Publications for gene: UNC13D were set to PMID: 33249554
Fetal anomalies v1.958 THSD1 Arina Puzriakova Publications for gene: THSD1 were set to PMID: 28749478; 26036949
Fetal anomalies v1.956 ST3GAL5 Arina Puzriakova Publications for gene: ST3GAL5 were set to
Fetal anomalies v1.955 SERPINA11 Arina Puzriakova Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478
Fetal anomalies v1.953 PIGS Arina Puzriakova Publications for gene: PIGS were set to PMID: 30269814
Fetal anomalies v1.950 NUP88 Arina Puzriakova Publications for gene: NUP88 were set to 30543681
Fetal anomalies v1.949 NONO Arina Puzriakova Publications for gene: NONO were set to 32397791
Fetal anomalies v1.947 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730
Fetal anomalies v1.944 MYBPC3 Arina Puzriakova Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127
Fetal anomalies v1.943 MRPS16 Arina Puzriakova Publications for gene: MRPS16 were set to PMID: 28749478
Fetal anomalies v1.941 MANBA Arina Puzriakova Publications for gene: MANBA were set to
Fetal anomalies v1.940 LOX Arina Puzriakova Publications for gene: LOX were set to PMID: 31742715
Fetal anomalies v1.938 FTO Arina Puzriakova Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117
Fetal anomalies v1.935 FOXP2 Arina Puzriakova Publications for gene: FOXP2 were set to
Fetal anomalies v1.929 DEPDC5 Arina Puzriakova Publications for gene: DEPDC5 were set to
Fetal anomalies v1.926 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to 22077972; 31441039; 10944224
Fetal anomalies v1.923 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to PMID: 22077972; 31441039; 10944224
Fetal anomalies v1.922 CACNA1S Arina Puzriakova Publications for gene: CACNA1S were set to PMID: 33060286; 28012042
Fetal anomalies v1.918 CACNA1D Arina Puzriakova Publications for gene: CACNA1D were set to
Fetal anomalies v1.916 C1QBP Arina Puzriakova Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, OMIM:617713; Cardiomyopathy; Myopathy; Metabolic acidosis; Ologohydramnios
Fetal anomalies v1.915 C1QBP Arina Puzriakova Publications for gene: C1QBP were set to
Fetal anomalies v1.913 ASXL3 Arina Puzriakova Publications for gene: ASXL3 were set to
Fetal anomalies v1.912 ASPH Arina Puzriakova Publications for gene: ASPH were set to
Fetal anomalies v1.910 AGT Arina Puzriakova Publications for gene: AGT were set to PMID: 28976722
Fetal anomalies v1.908 ACVRL1 Arina Puzriakova Publications for gene: ACVRL1 were set to
Fetal anomalies v1.901 RAB11A Eleanor Williams Publications for gene: RAB11A were set to
Fetal anomalies v1.900 CHRM3 Rhiannon Mellis gene: CHRM3 was added
gene: CHRM3 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM3 were set to PMID: 22077972; 31441039; 10944224
Phenotypes for gene: CHRM3 were set to Prune belly syndrome; Megacystis
Review for gene: CHRM3 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Discussed as a potential cause of megacystis. Currently Red on Panelapp CAKUT panel (2016) because at that time there was only 1 reported family and a mouse model. The unpublished data mentioned in that panelapp review (from Adrian Woolf, Manchester) is now published so now 2 families PMID: 22077972; 31441039 plus a mouse model PMID: 10944224. However, prenatal findings (distended bladder and unilateral hydronephrosis) only documented for one individual. More evidence of prenatal phenotype would be helpful.
Sources: Expert Review, Literature
Fetal anomalies v1.900 ENG Rhiannon Mellis gene: ENG was added
gene: ENG was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
Review for gene: ENG was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Consistency check because out of 4 known HHT genes EPHB4 and SMAD4 are on the fetal anomalies panel but ACVRL1 and ENG are not.

No specific published reports of ENG variants detected prenatally but correlates with pulmonary AVMs which can present neonatally and can be detected on prenatal US (PMID: 17719943; PMID: 21988128).
Sources: Expert Review, Literature
Fetal anomalies v1.900 PIGS Rhiannon Mellis gene: PIGS was added
gene: PIGS was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to PMID: 30269814
Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95
Review for gene: PIGS was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Currently red/amber on some other panels but reviewed on Congenital disorders of glycosylation panel as having sufficient evidence for green rating at next major review, in light of this same paper (PMID: 30269814). Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to intellectual disability/epileptic encephalopathy. Fetal akinesia phenotype may be relevant for fetal anomalies panel.
Sources: Expert Review, Literature
Fetal anomalies v1.900 MRPS16 Rhiannon Mellis gene: MRPS16 was added
gene: MRPS16 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS16 were set to PMID: 28749478
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2
Review for gene: MRPS16 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Amber on mitochondrial/inborn errors of metabolism etc. Not Green on any panel. One previous case reported with "agenesis of the corpus callosum, dysmorphism, and fatal neonatal lactic acidosis. The patient was small at birth, with dysmorphic facies, low-set ears, nonpitting edema of the limbs, brachydactyly, and redundant skin over the neck. She died of intractable metabolic acidosis at age 3 days." PMID:15505824 (2004).

One further fetal case reported by Shamseldin et al. 2018 (PMID: 28749478) with hydrops, very short long bones, and partial ACC
Sources: Expert Review, Literature
Fetal anomalies v1.900 THSD1 Rhiannon Mellis gene: THSD1 was added
gene: THSD1 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THSD1 were set to PMID: 28749478; 26036949
Phenotypes for gene: THSD1 were set to Intracerebral aneurysms; ?Hydrops fetalis
Review for gene: THSD1 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence.

Details of review:
Not currently Green on any panels. Amber on Cerebral vascular malformations. (Heterozygous mutations identified in nine families with intracerebral aneurysms plus animal models but unclear on penetrance.)

Shamseldin et al 2018 (PMID: 28749478) report a fetal case with hydrops and a HOMOZYGOUS likely pathogenic variant in THSD1. The same group previously identified this same founder mutation in THSD1 in another 3 families with hydrops/oedema (PMID: 26036949)
Sources: Expert Review, Literature
Fetal anomalies v1.900 MYBPC3 Rhiannon Mellis gene: MYBPC3 was added
gene: MYBPC3 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy; ?Congenital myopathy
Review for gene: MYBPC3 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence.

Currently rated Green on the following other PanelApp panel(s): Various cardiomyopathy panels. Amber on congenital myopathy panel.

Details of review:
Previously only one (AR) case with skeletal muscle phenotype, although is a known cardiomyopathy gene (PMID: 19858127). One fetal case reported by Shamseldin et al 2018 (PMID: 28749478) with hydrops.
Sources: Expert Review, Literature
Fetal anomalies v1.900 CACNA1S Rhiannon Mellis gene: CACNA1S was added
gene: CACNA1S was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1S were set to PMID: 33060286; 28012042
Phenotypes for gene: CACNA1S were set to Congenital myopathy; arthrogryposis
Review for gene: CACNA1S was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Previously only monoallelic variants reported associated with malignant hyperthermia and periodic paralysis but more recently biallelic variants have been associated with congenital myopathy. In Ravenscroft et al 2020 (PMID: 33060286) the reported biallelic variants were VUS but strong suspicion of causality: the proband had polyhydramnios, scalp oedema, bilateral wrist contractures, bilateral talipes and reduced fetal movements, ToP at 26/40. Mild facial dysmorphic features were noted on autopsy, including low anterior hairline, mild hypertelorism and moderate retrognathia. A previous pregnancy was affected with polyhydramnios and reduced fetal movements, delivered at 32/40 due to placental abruption and died at 10 days. On photos the baby had ptosis and broad nasal tip. The biallelic variants segregated within the family (parents and the 2 unaffected sibs all het). No cell lines available for functional studies.
Another study (PMID: 28012042) reports 7 families with congenital myopathy and CACNA1S mutations (both recessive and dominant), of whom 3 had cases with antenatal onset (reduced fetal movements).
Sources: Expert Review, Literature
Fetal anomalies v1.900 NDUFB10 Rhiannon Mellis gene: NDUFB10 was added
gene: NDUFB10 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730
Phenotypes for gene: NDUFB10 were set to Mitochondrial complex I deficiency
Review for gene: NDUFB10 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Not Green on any other panels (Amber/Red because only 1 case reported, with functional studies). Causes Mitochondrial complex 1 deficiency.
One fetal case reported by Monies et al 2019 (PMID: 31130284) with Non-immune hydrops fetalis and died after birth.
The previous reported case on OMIM (from PMID: 28040730) was a female infant with IUGR, hydrops, lung hypoplasia and fetal cardiomyopathy - neonatal death with rapidly progressive lactic acidosis and PM found decreased complex 1 activity in skeletal muscle, heart, liver. Previous child of parents also had hydrops and died on day 1 of life.
Sources: Expert Review, Literature
Fetal anomalies v1.900 FTO Rhiannon Mellis gene: FTO was added
gene: FTO was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism
Review for gene: FTO was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Not Green on any panels (only 2 families reported to date). On OMIM: Growth retardation, developmental delay, facial dysmorphism. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Dandy-Walker malformation, IUGR, and polyhydramnios. This fits with the phenotype reported in one consanguineous family with 9 affected individuals reported by Boissel 2009 PMID: 19559399. The other reported case is PMID: 26378117 - a homozygous missense variant in FTO was identified in a 21-month old girl who presented with growth retardation, failure to thrive, severely delayed development, Dysmorphic facial features, decreased brain parenchyma, delayed myelination, and a thin corpus callosum.
Sources: Expert Review, Literature
Fetal anomalies v1.900 AGT Rhiannon Mellis gene: AGT was added
gene: AGT was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to PMID: 28976722
Phenotypes for gene: AGT were set to Renal dysgenesis
Review for gene: AGT was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence.

Currently rated Green on the following other PanelApp panel(s): CAKUT and unexplained kidney failure in young people

Details of review:
Fu et al 2018 (PMID: 28976722) report one fetal case with Right multicystic dysplastic kidney
Sources: Literature, Expert Review
Fetal anomalies v1.900 UNC13D Rhiannon Mellis gene: UNC13D was added
gene: UNC13D was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13D were set to PMID: 33249554
Phenotypes for gene: UNC13D were set to Pancytopenia; ?Hydrops fetalis
Review for gene: UNC13D was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Currently rated Green on the following other PanelApp panel(s): primary immunodeficiency

Details of review:
One fetal case reported in Diderich et al 2020 (PMID: 33249554) with hydrops, presumed secondary to fetal anaemia.
Sources: Literature, Expert Review
Fetal anomalies v1.900 SERPINA11 Rhiannon Mellis gene: SERPINA11 was added
gene: SERPINA11 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478
Phenotypes for gene: SERPINA11 were set to ?Hydrops fetalis
Review for gene: SERPINA11 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene to watch for further evidence.

Not currently rated Green on any other PanelApp panel(s).

Details of review:
No OMIM disease association currently. Reported as a novel genotype-phenotype association in Aggarwal 2020 (PMID: 31742715) in a fetus with homozygous nonsense variant. Fetus presented with pericardial effusion and on post-mortem was found to have serous cavity effusions, and generalised blebs of gelatinous material on the visceral surfaces. Histopathology and stains showed derangement of ECM and collagen fibres. Consanguineous couple with one similarly affected previous pregnancy. This gene is also reported in Shamseldin et al 2018 (PMID: 28749478) as a candidate gene in a fetus with hydrops.
Sources: Expert Review, Literature
Fetal anomalies v1.900 LOX Rhiannon Mellis gene: LOX was added
gene: LOX was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: LOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOX were set to PMID: 31742715
Phenotypes for gene: LOX were set to Aortopathy
Review for gene: LOX was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Currently rated Green on the following other PanelApp panel(s): familial thoracic aortic aneurysm

Details of review:
Reported as a novel genotype-phenotype association in Aggarwal et al 2020 (PMID: 31742715), in a fetus with homozygous missense variants. Heterozygous variants in this gene are known to cause thoracic aortic aneurysm. The fetus presented with unexplained IUD and on post-mortem had: Excessive skin folds, emphysematous bullae on lung surface, Facial dysmorphism, distal joint contractures, internal haemorrhages. Histopathology and special stains confirmed degradation of collagen and elastin in the aorta, pleura and skin. If we are going to add to panel suggest putting MOI as biallelic only (and accept that this would be an incidental finding for carrier parents that would lead to them needing monitoring for aortic aneurysm)
Sources: Expert Review, Literature
Fetal anomalies v1.900 TMEM70 Arina Puzriakova Publications for gene: TMEM70 were set to
Fetal anomalies v1.896 SPTA1 Arina Puzriakova Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484
Fetal anomalies v1.895 PLOD3 Arina Puzriakova Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358
Fetal anomalies v1.891 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 27799408; 33645542
Fetal anomalies v1.890 NMNAT2 Arina Puzriakova Publications for gene: NMNAT2 were set to 31136762; 31132363; 23082226
Fetal anomalies v1.888 NEXN Arina Puzriakova Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564
Fetal anomalies v1.885 NDUFB11 Arina Puzriakova Publications for gene: NDUFB11 were set to
Fetal anomalies v1.883 MED13L Arina Puzriakova Publications for gene: MED13L were set to
Fetal anomalies v1.880 NDUFB11 Rhiannon Mellis reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25772934; Phenotypes: Linear skin defects, cardiomyopathy, ACC; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.880 SPTA1 Rhiannon Mellis gene: SPTA1 was added
gene: SPTA1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484
Phenotypes for gene: SPTA1 were set to Hydrops fetalis; Congenital anaemia
Review for gene: SPTA1 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: Likely that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending further evidence and review of other congenital anaemia genes that may cause hydrops.

Currently rated Green on the following other PanelApp panel(s): Congenital anaemias

Details of review: The fetal case in Wagner et al 2021 (PMID: 34132406) had hydrops secondary to severe fetal anaemia at 28/40. Chonat et al 2019 (PMID: 31333484) also report 3 further unrelated cases with hydrops/fetal anaemia.
Sources: Literature, Expert Review
Fetal anomalies v1.880 PLOD3 Rhiannon Mellis gene: PLOD3 was added
gene: PLOD3 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358
Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency; IUGR; Contractures
Review for gene: PLOD3 was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: May be fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending more evidence.

Rated Green on the following other PanelApp panel(s): Cataracts

Details of review: Phenotype on OMIM includes potentially fetally detectable phenotypes: IUGR, contractures, cataracts (?whether congenital). Salo et al 2008 (PMID: 18834968) describes a proband with IUGR, flat facial profile, simple, low-set ears, shallow orbits, short, upturned nose, and downturned corners of the mouth. Skeletal features included talipes equinovarus, progressive scoliosis, osteopenia, and several pathologic fractures. A sib had IUGR and was stillborn, with finger contractures (but didn't seem to have molecular testing?).

The fetal case in Cao et al 2021 had NT 5.2 mm (12/40), Reduced fetal movement (12/40), FGR (24/40), Enlarged posterior fossa (24/40), Intracranial haemorrhage (24/40), Clenched hands and fixated extended knees (24/40).
Sources: Literature, Expert Review
Fetal anomalies v1.880 NEXN Rhiannon Mellis gene: NEXN was added
gene: NEXN was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: NEXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564
Phenotypes for gene: NEXN were set to Cardiomyopathy
Review for gene: NEXN was set to AMBER
Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: Gene usually causes adult-onset AD cardiomyopathy. However, there may be a fetally relevant phenotype with biallelic variants. Support adding to the Fetal anomalies panel as an Amber gene, pending more evidence of fetal phenotype (only 2 reported unrelated cases to date).

Currently rated Green on the following other PanelApp panel(s): Cardiomyopathy (dilated)

Details of review: The fetal case in Sparks et al (PMID: 33027564) had pericardial effusion, ascites, cardiomegaly, dilation and hypertrophy of cardiac ventricles, hypoplastic and dysplastic aortic valve, diminished systolic function, fetal growth restriction, and was stillborn. 2 NEXN variants found in the fetus (1 mat inherited, 1 de novo) but unable to confirm phase.
The fetal case in Rinaldi et al 2021 (PMID: 32058062) had Cardiomegaly, low contractility/outflow, fibroelastosis of right ventricle. The fetus was compound het for NEXN variants and parents were both unaffected het with normal echos. They'd had one previous pregnancy with same phenotype.
Sources: Literature, Expert Review
Fetal anomalies v1.875 TUBG1 Arina Puzriakova Publications for gene: TUBG1 were set to 23603762; 27010057
Fetal anomalies v1.873 WNT7B Julia Baptista gene: WNT7B was added
gene: WNT7B was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7B were set to 35790350
Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia; Diaphragmatic anomalies; Anophthalmia/Microphthalmia; Cardiac defects
Review for gene: WNT7B was set to GREEN
Added comment: One homozygous nonsense variant identified in family 1. Compound heterozygous missense and nonsense variants identified in two affected fetuses in family 2. A third family with limited phenotypic information available, with parents heterozygous for the same nonsense variant, p. (Arg98Ter), identified in family 1, but no segregation studies in the affected.
Animal studies in Danio rerio were supportive.
Lung hypoplasia with tracheal, ocular, cardiac, and renal defects.
Sources: Expert Review
Fetal anomalies v1.873 MTM1 Arina Puzriakova Added comment: Comment on mode of inheritance: Rare manifesting females have been reported, including a heterozygous female with prenatal/neonatal onset (PMID: 12707446). MOI should therefore be updated form XLR to XLD at the next GMS review.
Fetal anomalies v1.871 ARHGAP29 Eleanor Williams Publications for gene: ARHGAP29 were set to
Fetal anomalies v1.866 CYP11A1 Arina Puzriakova Publications for gene: CYP11A1 were set to 28425981
Fetal anomalies v1.864 ZFPM2 Anna de Burca gene: ZFPM2 was added
gene: ZFPM2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFPM2 were set to 24702427
Phenotypes for gene: ZFPM2 were set to Congenital diaphragmatic hernia
Penetrance for gene: ZFPM2 were set to Incomplete
Review for gene: ZFPM2 was set to AMBER
Added comment: Paper suggests that ZFPM2 variants may be associated with isolated congenital diaphragmatic hernia, but penetrance appears reduced. Given the apparently reduced penetrance and since isolated CDH is a relatively common congenital finding, the gene-disease association remains uncertain. Of note, variants in this gene have also been associated with 46,XY sex reversal and Tetralogy of Fallot.
Sources: Literature
Fetal anomalies v1.863 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Fetal anomalies v1.855 LIFR Eleanor Williams Publications for gene: LIFR were set to
Fetal anomalies v1.853 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Fetal anomalies v1.848 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to None
Fetal anomalies v1.846 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
Fetal anomalies v1.845 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Fetal anomalies v1.837 PHF6 Arina Puzriakova Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.831 HSF4 Arina Puzriakova Publications for gene: HSF4 were set to
Fetal anomalies v1.827 RAC3 Rhiannon Mellis gene: RAC3 was added
gene: RAC3 was added to Fetal anomalies. Sources: Literature,Expert Review,NHS GMS
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAC3 were set to 30293988; 29276006
Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability
Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RAC3 was set to GREEN
Added comment: This gene already has sufficient evidence for Green rating on the ID panel (see below) and now adding evidence (from NHS GMS testing) for prenatal phenotype to support Green rating for the Fetal Anomalies panel also: A RAC3 likely pathogenic missense variant has been identified postnatally in a baby that presented prenatally with absent corpus callosum, bilateral ventriculomegaly, cerebellar and brainstem hypoplasia detected on fetal ultrasound and MRI. The variant is judged by the child's clinical team to be causative of the clinical and radiological features in the child.

Copied from Green review on Intellectual Disability panel by Konstantinos Varvagiannis:

PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients.

All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance).

Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family.

Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006).
Sources: Literature, Expert Review, NHS GMS
Fetal anomalies v1.826 CDX2 Dmitrijs Rots gene: CDX2 was added
gene: CDX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDX2 were set to PMID: 34671974
Phenotypes for gene: CDX2 were set to Multiple congenital anomalies
Penetrance for gene: CDX2 were set to unknown
Review for gene: CDX2 was set to GREEN
Added comment: Multiple patients reported and summarized in PMID: 34671974 with multiple congenital anomalies, including patients with VACTERL-like phenotype.
Sources: Literature
Fetal anomalies v1.822 TLL1 Ivone Leong gene: TLL1 was added
gene: TLL1 was added to Fetal anomalies. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 10331975; 31570783
Phenotypes for gene: TLL1 were set to Atrial septal defect 6, OMIM:613087
Penetrance for gene: TLL1 were set to Complete
Fetal anomalies v1.819 PHF6 Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.819 PHF6 Ivone Leong Publications for gene: PHF6 were set to
Fetal anomalies v1.812 CLPB Arina Puzriakova Publications for gene: CLPB were set to
Fetal anomalies v1.803 CNBP_CCTG Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to support the gene-disease association but setting rating to Red as currently the performance of the pipeline for this STR is very poor as it is located in a complex locus.
Fetal anomalies v1.802 CNBP_CCTG Arina Puzriakova STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to Fetal anomalies. Sources: Expert Review
STR, NGS Not Validated tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668
Added comment: The mutation is a CCTG repeat expansion in intron 1 of the CNBP (ZNF9) gene. The range of expanded allele sizes is 75 to 11,000 CCTG repeats, whereas normal is up to 30.

The CCTG repeat tract in normal alleles typically contains one or more tetranucleotide interruptions. The sequence interruptions that are routinely found within the CCTG tracts of normal alleles are not found in sequenced pathogenic CCTG expansions of CNBP alleles. On transmission to the next generation, CNBP repeat length sometimes diminishes dramatically, without significant differences determined by the gender of the transmitting parent.
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Copied from Rhiannon Mellis (GOSH) review of gene CNBP on Fetal anomalies panel:

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Expert Review
Fetal anomalies v1.794 MMP15 Ivone Leong Publications for gene: MMP15 were set to PMID: 33875846
Fetal anomalies v1.793 EDNRB Ivone Leong Publications for gene: EDNRB were set to
Fetal anomalies v1.791 SMARCE1 Arina Puzriakova Publications for gene: SMARCE1 were set to
Fetal anomalies v1.788 SLC6A9 Arina Puzriakova Publications for gene: SLC6A9 were set to
Fetal anomalies v1.785 PRRX1 Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' for now as 3 unrelated cases of otocephaly with private heterozygous LoF variants have been reported in literature to date, but only one patient with a homozygous alteration. May be reviewed if evidence of further cases emerges.
Fetal anomalies v1.782 PRIM1 Arina Puzriakova Publications for gene: PRIM1 were set to PMID: 33060134
Fetal anomalies v1.780 POLR1B Arina Puzriakova Publications for gene: POLR1B were set to PMID: 31649276
Fetal anomalies v1.776 LMNB2 Arina Puzriakova Publications for gene: LMNB2 were set to PMID: 33033404
Fetal anomalies v1.774 LMNB1 Arina Puzriakova Publications for gene: LMNB1 were set to PMID: 33033404
Fetal anomalies v1.769 FLNC Arina Puzriakova Publications for gene: FLNC were set to PMID: 33060286; 29858533
Fetal anomalies v1.766 EXTL3 Arina Puzriakova Publications for gene: EXTL3 were set to
Fetal anomalies v1.762 ENPP1 Arina Puzriakova Publications for gene: ENPP1 were set to
Fetal anomalies v1.760 EIF5A Arina Puzriakova Publications for gene: EIF5A were set to PMID: 33547280
Fetal anomalies v1.757 CSF1R Arina Puzriakova Publications for gene: CSF1R were set to PMID: 30982608
Fetal anomalies v1.753 CRADD Arina Puzriakova Publications for gene: CRADD were set to
Fetal anomalies v1.752 CDK8 Arina Puzriakova Publications for gene: CDK8 were set to PMID: 31742715; 30905399
Fetal anomalies v1.749 MMP15 Dmitrijs Rots gene: MMP15 was added
gene: MMP15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to PMID: 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis with hepatomegaly and congenital heart disease. Phenotype could be important for fetal panel.
Sources: Literature
Fetal anomalies v1.749 PRRX1 Rhiannon Mellis gene: PRRX1 was added
gene: PRRX1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
Review for gene: PRRX1 was set to GREEN
Added comment: At least 4 unrelated cases reported with agnathia-otocephaly complex
Sources: Literature
Fetal anomalies v1.749 POLR1B Rhiannon Mellis gene: POLR1B was added
gene: POLR1B was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to PMID: 31649276
Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome 4
Review for gene: POLR1B was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already flagged for upgrade to Green on the following other PanelApp panel(s): Clefting, Skeletal dysplasias

Details of review:
PMID: 31649276 - Sanchez et al 2020 - using exome sequencing identified 6 patients (5 unrelated families) with Treacher Collins syndrome with heterozygous missense variants in POLR1B.
Sources: Expert Review, Literature
Fetal anomalies v1.749 CSF1R Rhiannon Mellis gene: CSF1R was added
gene: CSF1R was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to PMID: 30982608
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)
Review for gene: CSF1R was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Homozygous variants cause Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Skeletal phenotype is osteopetrosis, dysosteosclerosis, platyspondyly, widened metaphyses. Brain anomalies include ACC and Dandy walker. At least one reported case of prenatal presentation with multiple brain anomalies - PubMed: 30982608

NB Bilallelic LOF variants cause this condition with fetally relevant phenotype but Monoallelic variants with dominant-negative effect cause an adult-onset neurodegenerative disease. Only for fetal reporting in BIALLELIC form
Sources: Expert Review
Fetal anomalies v1.749 LMNB2 Rhiannon Mellis gene: LMNB2 was added
gene: LMNB2 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB2 were set to PMID: 33033404
Phenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending)

Details of review:
Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic).
Sources: Expert Review, Literature
Fetal anomalies v1.749 LMNB1 Rhiannon Mellis gene: LMNB1 was added
gene: LMNB1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to PMID: 33033404
Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant
Review for gene: LMNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending)

Details of review:
Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic).
Sources: Literature, Expert Review
Fetal anomalies v1.749 EIF5A Rhiannon Mellis gene: EIF5A was added
gene: EIF5A was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to PMID: 33547280
Phenotypes for gene: EIF5A were set to Faundes-Banka syndrome
Review for gene: EIF5A was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Faundes et al 2021 (PMID: 33547280) report this as a novel disease gene associated with micrognathia, microcephaly, IUGR and Kabuki-like phenotype. Now on OMIM as of August 2021. 7 unrelated patients in this publication.
Sources: Literature, Expert Review
Fetal anomalies v1.749 PRIM1 Rhiannon Mellis gene: PRIM1 was added
gene: PRIM1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to PMID: 33060134
Phenotypes for gene: PRIM1 were set to Primordial dwarfism
Review for gene: PRIM1 was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Parry et al 2020 (PMID: 33060134) report this as a novel disease gene - biallelic LOF mutations in 5 patients (from 4 families) with primordial dwarfism phenotype, including prenatal features of IUGR and extreme microcephaly with simplified gyri.
Sources: Literature, Expert Review
Fetal anomalies v1.749 EXTL3 Rhiannon Mellis gene: EXTL3 was added
gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities
Review for gene: EXTL3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott.

Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert Review
Fetal anomalies v1.749 FLNC Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Distal myopathies

Details of review:
In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth.
Sources: Literature, Expert Review; to: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Distal myopathies; Neuromuscular disorders; flagged for upgrade to Green on Arthrogryposis panel

Details of review:
In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth.
Sources: Literature, Expert Review
Fetal anomalies v1.749 FLNC Rhiannon Mellis gene: FLNC was added
gene: FLNC was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to PMID: 33060286; 29858533
Phenotypes for gene: FLNC were set to Arthrogryposis
Review for gene: FLNC was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Distal myopathies

Details of review:
In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth.
Sources: Literature, Expert Review
Fetal anomalies v1.749 CDK8 Rhiannon Mellis gene: CDK8 was added
gene: CDK8 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK8 were set to PMID: 31742715; 30905399
Phenotypes for gene: CDK8 were set to Syndromic developmental disorder with hypotonia and behavioural abnormalities
Review for gene: CDK8 was set to GREEN
Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already rated Green on the following other PanelApp panel(s): Intellectual disability; Severe paediatric disorders

Details of review:
Aggarwal et al 2020 report a heterozygous nonsense variant in a fetus with ventriculomegaly and Ebstein anomaly resulting in IUFD. Post-mortem found additionally congenital diaphragmatic hernia, common atrium and facial dysmorphism. This nonsense variant is at the same position as a hotspot for missense variants reported in a paediatric cohort (Calpena et al 2019, PMID: 30905399) with overlapping but milder phenotype: half of the 12 children in that cohort had cardiac defects, most had dysmorphic features - hence Aggarwal et al propose that this is a more severe (prenatal) presentation of the same multiple malformation syndrome, caused here by a nonsense rather than missense mutation.
Sources: Literature, Expert Review
Fetal anomalies v1.738 IFT122 Sarah Leigh Publications for gene: IFT122 were set to
Fetal anomalies v1.733 EHBP1L1 Sarah Leigh gene: EHBP1L1 was added
gene: EHBP1L1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1
Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369
Penetrance for gene: EHBP1L1 were set to unknown
Fetal anomalies v1.732 ZC4H2 Ivone Leong Publications for gene: ZC4H2 were set to
Fetal anomalies v1.729 AP1S2 Arina Puzriakova Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.
Fetal anomalies v1.727 SCUBE3 Sarah Leigh gene: SCUBE3 was added
gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Other
Q2_21_rating tags were added to gene: SCUBE3.
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184
Penetrance for gene: SCUBE3 were set to unknown
Fetal anomalies v1.721 TMEM260 Sarah Leigh Publications for gene: TMEM260 were set to 28318500
Fetal anomalies v1.720 WLS Zornitza Stark gene: WLS was added
gene: WLS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to 34587386
Phenotypes for gene: WLS were set to structural congenital anomalies
Review for gene: WLS was set to GREEN
Added comment: - Homozygous variants in 10 affected persons from 5 unrelated families.
- Affected individuals had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Fetal anomalies v1.720 WNT9B Zornitza Stark gene: WNT9B was added
gene: WNT9B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT9B were set to 34145744
Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia
Review for gene: WNT9B was set to AMBER
Added comment: WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities.

Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance.

I wasn't sure which panel this is more pertinent to: we have added this gene to our CAKUT panel.
Sources: Literature
Fetal anomalies v1.719 GREB1L Ivone Leong Publications for gene: GREB1L were set to 29261186; 29100091; 31424080; 32378186
Fetal anomalies v1.713 CNTN1 Arina Puzriakova gene: CNTN1 was added
gene: CNTN1 was added to Fetal anomalies. Sources: Expert list,Radboud University Medical Center, Nijmegen,Expert Review Amber
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to 19026398; 32779773
Phenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540
Penetrance for gene: CNTN1 were set to Complete
Fetal anomalies v1.706 WDR91 Arina Puzriakova Publications for gene: WDR91 were set to 32732226
Fetal anomalies v1.704 PRKD1 Arina Puzriakova Publications for gene: PRKD1 were set to
Fetal anomalies v1.703 COL4A2 Arina Puzriakova Publications for gene: COL4A2 were set to
Fetal anomalies v1.702 COL4A1 Arina Puzriakova Publications for gene: COL4A1 were set to
Fetal anomalies v1.699 TWIST2 Ivone Leong Added comment: Comment on phenotypes: Also associated with Focal facial dermal dysplasia 3, Setleis type, OMIM:227260
Fetal anomalies v1.699 TWIST2 Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885
Fetal anomalies v1.692 MYOD1 Ivone Leong gene: MYOD1 was added
gene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: MYOD1.
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. The DMPK gene was demoted and this STR was added to this panel to ensure that cases are appropriately detected.

Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
Fetal anomalies v1.688 DMPK_CTG Arina Puzriakova STR: DMPK_CTG was added
STR: DMPK_CTG was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_CTG were set to 7825566
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900
Fetal anomalies v1.684 ATAD3A Arina Puzriakova Publications for gene: ATAD3A were set to 27640307; 28327206
Fetal anomalies v1.676 SPTBN5 Arina Puzriakova Publications for gene: SPTBN5 were set to 32732226
Fetal anomalies v1.674 SMARCC1 Arina Puzriakova commented on gene: SMARCC1: Penetrance for gene SMARCC1 was set from None to Incomplete
Fetal anomalies v1.674 FOXG1 Sarah Leigh Publications for gene: FOXG1 were set to
Fetal anomalies v1.672 ZNF3 Arina Puzriakova gene: ZNF3 was added
gene: ZNF3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF3 were set to 32732226
Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft
Review for gene: ZNF3 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing.
Sources: Literature
Fetal anomalies v1.671 WDR91 Arina Puzriakova gene: WDR91 was added
gene: WDR91 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR91 were set to 32732226
Phenotypes for gene: WDR91 were set to Hygroma; Hydrocephaly
Review for gene: WDR91 was set to RED
Added comment: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents
Sources: Literature
Fetal anomalies v1.670 SPTBN5 Arina Puzriakova gene: SPTBN5 was added
gene: SPTBN5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN5 were set to 32732226
Phenotypes for gene: SPTBN5 were set to Multicystic kidney; Oligohydramnios
Review for gene: SPTBN5 was set to RED
Added comment: Novel candidate gene identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Compound heterozygous variants including a truncating variant were found by exome sequencing.
Sources: Literature
Fetal anomalies v1.669 SCN7A Arina Puzriakova gene: SCN7A was added
gene: SCN7A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN7A were set to 32732226
Phenotypes for gene: SCN7A were set to Holoprosencephaly
Review for gene: SCN7A was set to RED
Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation.
Sources: Literature
Fetal anomalies v1.668 MYBPC2 Arina Puzriakova gene: MYBPC2 was added
gene: MYBPC2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC2 were set to 32732226
Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium
Review for gene: MYBPC2 was set to RED
Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs.
Sources: Literature
Fetal anomalies v1.667 DNAH2 Arina Puzriakova gene: DNAH2 was added
gene: DNAH2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH2 were set to 32732226
Phenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy
Review for gene: DNAH2 was set to RED
Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing.
Sources: Literature
Fetal anomalies v1.666 SMARCC1 Arina Puzriakova Penetrance for gene SMARCC1 was set from to None
Fetal anomalies v1.665 SMARCC1 Arina Puzriakova gene: SMARCC1 was added
gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_21_rating tags were added to gene: SMARCC1.
Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC1 were set to 24170322; 29983323; 32732226; 33077954
Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities
Fetal anomalies v1.663 DPH1 Arina Puzriakova gene: DPH1 was added
gene: DPH1 was added to Fetal anomalies. Sources: Literature
Q2_21_rating tags were added to gene: DPH1.
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH1 were set to 25558065; 29362492; 30877278; 32732226
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Review for gene: DPH1 was set to GREEN
Added comment: Biallelic variants in this gene cause a neurodevelopmental disorder characterised by ID/DD, short stature, dysmorphic features, craniofacial and ectodermal anomalies. Several reports note antenatal anomalies and multiple congenital abnormalities that may conceivably be detected prenatally.

Fetal ultrasound phenotypes reported in literature include IUGR, polyhydramnios, craniostenosis, cardiac abnormalities, brain anomalies, and polydactyly (PMID: 25558065; 29362492; 30877278; 32732226)
Sources: Literature
Fetal anomalies v1.661 RFWD3 Arina Puzriakova Publications for gene: RFWD3 were set to PMID: 2869192
Fetal anomalies v1.656 FKBP8 Arina Puzriakova Publications for gene: FKBP8 were set to 32969478
Fetal anomalies v1.655 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 33645542
Fetal anomalies v1.651 TSEN54 Arina Puzriakova Publications for gene: TSEN54 were set to
Fetal anomalies v1.649 CLTC Arina Puzriakova Publications for gene: CLTC were set to
Fetal anomalies v1.648 RFWD3 Rhiannon Mellis gene: RFWD3 was added
gene: RFWD3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to PMID: 2869192
Phenotypes for gene: RFWD3 were set to Fanconi anaemia
Review for gene: RFWD3 was set to RED
Added comment: Fetally relevant phenotype but only one case reported in literature so far so await further cases.

(In the single reported case, the child had: intrauterine growth retardation, duodenal atresia, radial ray malformations, bilateral absent thumbs, small midface, ventriculomegaly, hypoplastic left kidney, and polysplenia. Brain MRI showed rarefied periventricular white matter, narrow corpus callosum, abnormal pituitary, and Chiari malformation type I)
Sources: Literature
Fetal anomalies v1.647 OCRL Eleanor Williams Publications for gene: OCRL were set to
Fetal anomalies v1.645 FOXP4 Ivone Leong gene: FOXP4 was added
gene: FOXP4 was added to Fetal anomalies. Sources: Literature
Q2_21_rating, Q2_21_phenotype tags were added to gene: FOXP4.
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Review for gene: FOXP4 was set to AMBER
Added comment: This gene is associated with a phenotype in Gene2Phenotype but not in OMIM.

This gene is present as an Amber gene on the Intellectual disability panel (Version 3.1052) with the following reviews:

"This gene is a little bit difficult to place, may be Green on Fetal Anomalies panel? Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays, hence Amber rating here. Sources: Literature
Zornitza Stark (Australian Genomics), 4 Nov 2020"

"Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). As ID is not present in the majority of affected patients, and the affected individuals only show mild ID, this gene has been given an Amber rating.
Ivone Leong (Genomics England Curator), 4 Dec 2020"

After discussion with the Genomics England Clinical Team it was decided that this gene should be added to this panel as an Amber gene and subject to review by the GMS specialist group.
Sources: Literature
Fetal anomalies v1.642 FBN2 Sarah Leigh Publications for gene: FBN2 were set to
Fetal anomalies v1.638 LARS2 Arina Puzriakova Publications for gene: LARS2 were set to
Fetal anomalies v1.637 PLD1 Suzanne Drury gene: PLD1 was added
gene: PLD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 33645542
Phenotypes for gene: PLD1 were set to HP:0001654; HP:0001627; HP:0001638
Review for gene: PLD1 was set to GREEN
Added comment: PMID 33645542 identified 30 patients from 21 unrelated families of different ancestries with biallelic PLD1 variants. All 30 patients were diagnosed with severe congenital heart disease or
cardiomyopathy at the fetal or neonatal stage. PLD1 can also cause neonatal cardiomyopathy in the absence of congenital heart defects.
Sources: Literature
Fetal anomalies v1.631 KIDINS220 Eleanor Williams Publications for gene: KIDINS220 were set to
Fetal anomalies v1.629 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to
Fetal anomalies v1.627 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Fetal anomalies v1.625 OTUD5 Arina Puzriakova gene: OTUD5 was added
gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review
Q2_21_rating tags were added to gene: OTUD5.
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33131077; 33523931
Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Review for gene: OTUD5 was set to GREEN
Added comment: OTUD5 is associated with a relevant phenotype in OMIM but not yet in Gene2Phenotype.

- PMID: 33131077 (2021) - 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals.

- PMID: 33523931 (2021) - Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.
Sources: Expert Review
Fetal anomalies v1.623 SYNE1 Arina Puzriakova Publications for gene: SYNE1 were set to
Fetal anomalies v1.621 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416
Fetal anomalies v1.618 GDF6 Arina Puzriakova Publications for gene: GDF6 were set to
Fetal anomalies v1.614 ISCA-46302-Gain Catherine Snow Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Fetal anomalies. Sources: ClinGen
for-review tags were added to Region: ISCA-46302-Gain.
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758
Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis
Review for Region: ISCA-46302-Gain was set to AMBER
Added comment: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen
Fetal anomalies v1.613 PRUNE1 Eleanor Williams Publications for gene: PRUNE1 were set to
Fetal anomalies v1.611 SUFU Arina Puzriakova Publications for gene: SUFU were set to 28965847
Fetal anomalies v1.608 SMPD4 Arina Puzriakova Publications for gene: SMPD4 were set to PMID: 31495489
Fetal anomalies v1.605 SLC18A3 Arina Puzriakova Publications for gene: SLC18A3 were set to PMID: 31059209
Fetal anomalies v1.598 TSFM Catherine Snow Publications for gene: TSFM were set to
Fetal anomalies v1.597 SLC5A7 Arina Puzriakova Publications for gene: SLC5A7 were set to
Fetal anomalies v1.582 TRAP1 Catherine Snow Publications for gene: TRAP1 were set to
Fetal anomalies v1.575 TRAIP Catherine Snow Publications for gene: TRAIP were set to
Fetal anomalies v1.568 STIL Arina Puzriakova Publications for gene: STIL were set to
Fetal anomalies v1.560 TUBB3 Catherine Snow Publications for gene: TUBB3 were set to
Fetal anomalies v1.556 TUBG1 Catherine Snow Publications for gene: TUBG1 were set to
Fetal anomalies v1.555 TBC1D32 Arina Puzriakova Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556
Fetal anomalies v1.554 TUBGCP4 Catherine Snow Publications for gene: TUBGCP4 were set to
Fetal anomalies v1.552 TXNDC15 Catherine Snow Publications for gene: TXNDC15 were set to
Fetal anomalies v1.549 UBE2T Catherine Snow Publications for gene: UBE2T were set to
Fetal anomalies v1.546 STAC3 Arina Puzriakova Publications for gene: STAC3 were set to PMID: 30168660
Fetal anomalies v1.528 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to
Fetal anomalies v1.487 PGM3 Arina Puzriakova Publications for gene: PGM3 were set to
Fetal anomalies v1.479 NEK8 Arina Puzriakova Publications for gene: NEK8 were set to
Fetal anomalies v1.440 KLHL7 Arina Puzriakova Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to PERCHING syndrome, OMIM:617055; PERCHING syndrome, MONDO:0014890
Fetal anomalies v1.430 VAMP1 Catherine Snow Publications for gene: VAMP1 were set to
Fetal anomalies v1.428 ITGA8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)

ITGA8 is also Green on the 'Unexplained paediatric onset end-stage renal disease v.1.2' GMS panel
Fetal anomalies v1.394 GALNT2 Sarah Leigh Publications for gene: GALNT2 were set to
Fetal anomalies v1.320 ANTXR2 Arina Puzriakova Publications for gene: ANTXR2 were set to
Fetal anomalies v1.317 COLQ Arina Puzriakova Publications for gene: COLQ were set to PMID: 9689136; 11865139
Fetal anomalies v1.302 B4GAT1 Arina Puzriakova Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570
Fetal anomalies v1.291 WDR81 Arina Puzriakova Publications for gene: WDR81 were set to
Fetal anomalies v1.287 MYOCD Arina Puzriakova Publications for gene: MYOCD were set to
Fetal anomalies v1.284 MYO9A Arina Puzriakova Publications for gene: MYO9A were set to
Fetal anomalies v1.281 MYO18B Arina Puzriakova Publications for gene: MYO18B were set to
Fetal anomalies v1.278 MYMK Arina Puzriakova Publications for gene: MYMK were set to
Fetal anomalies v1.274 MYL1 Arina Puzriakova Publications for gene: MYL1 were set to PMID: 30215711
Fetal anomalies v1.272 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426
Fetal anomalies v1.271 MYH7 Arina Puzriakova Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809
Fetal anomalies v1.269 MYH2 Arina Puzriakova Publications for gene: MYH2 were set to
Fetal anomalies v1.265 MSTO1 Arina Puzriakova Publications for gene: MSTO1 were set to
Fetal anomalies v1.262 MSMO1 Arina Puzriakova Publications for gene: MSMO1 were set to
Fetal anomalies v1.258 MRAS Arina Puzriakova Publications for gene: MRAS were set to
Fetal anomalies v1.256 MESD Arina Puzriakova Publications for gene: MESD were set to
Fetal anomalies v1.252 MEIS2 Arina Puzriakova Publications for gene: MEIS2 were set to
Fetal anomalies v1.250 MAP3K20 Arina Puzriakova Publications for gene: MAP3K20 were set to
Fetal anomalies v1.247 MACF1 Arina Puzriakova Publications for gene: MACF1 were set to
Fetal anomalies v1.244 LRRC56 Arina Puzriakova Publications for gene: LRRC56 were set to
Fetal anomalies v1.241 KNL1 Arina Puzriakova Publications for gene: KNL1 were set to
Fetal anomalies v1.237 KIAA0753 Arina Puzriakova Publications for gene: KIAA0753 were set to
Fetal anomalies v1.235 KATNB1 Arina Puzriakova Publications for gene: KATNB1 were set to
Fetal anomalies v1.232 IFT81 Arina Puzriakova Publications for gene: IFT81 were set to
Fetal anomalies v1.229 MYPN Rhiannon Mellis gene: MYPN was added
gene: MYPN was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336
Review for gene: MYPN was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 ALOX12B Rhiannon Mellis gene: ALOX12B was added
gene: ALOX12B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100
Review for gene: ALOX12B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 ALOXE3 Rhiannon Mellis gene: ALOXE3 was added
gene: ALOXE3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545
Review for gene: ALOXE3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 AMACR Rhiannon Mellis gene: AMACR was added
gene: AMACR was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307
Review for gene: AMACR was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Peroxisomal disorders
Sources: Expert list
Fetal anomalies v1.229 AMMECR1 Rhiannon Mellis gene: AMMECR1 was added
gene: AMMECR1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Review for gene: AMMECR1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities
Sources: Expert list
Fetal anomalies v1.229 ANKS6 Rhiannon Mellis gene: ANKS6 was added
gene: ANKS6 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382
Review for gene: ANKS6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel
Sources: Expert list
Fetal anomalies v1.229 ARHGAP29 Rhiannon Mellis gene: ARHGAP29 was added
gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate
Review for gene: ARHGAP29 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.229 B4GAT1 Rhiannon Mellis gene: B4GAT1 was added
gene: B4GAT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Review for gene: B4GAT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Severe structural brain phenotype and dysplastic kidneys, reported onset in utero. PMID: 23877401; PMID: 23359570
Sources: Expert list
Fetal anomalies v1.229 BNC2 Rhiannon Mellis gene: BNC2 was added
gene: BNC2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612
Review for gene: BNC2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.229 CACNA1G Rhiannon Mellis gene: CACNA1G was added
gene: CACNA1G was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Review for gene: CACNA1G was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia
Sources: Expert list
Fetal anomalies v1.229 CANT1 Rhiannon Mellis gene: CANT1 was added
gene: CANT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450
Review for gene: CANT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.229 CASR Rhiannon Mellis gene: CASR was added
gene: CASR was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
Review for gene: CASR was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.229 CELSR1 Rhiannon Mellis gene: CELSR1 was added
gene: CELSR1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CELSR1 were set to hereditary lymphedema
Review for gene: CELSR1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary lymphoedema
Sources: Expert list
Fetal anomalies v1.229 CENPF Rhiannon Mellis gene: CENPF was added
gene: CENPF was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to PMID: 26820108; 25564561
Phenotypes for gene: CENPF were set to Stromme syndrome, 243605
Review for gene: CENPF was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Hydrocephalus; Limb disorders; Rare multisystem ciliopathy Super panel; Severe microcephaly

Additional comment: Fetal phenotype (ciliopathy) reported in PMID: 26820108 and PMID: 25564561
Sources: Expert list
Fetal anomalies v1.229 CERS3 Rhiannon Mellis gene: CERS3 was added
gene: CERS3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
Review for gene: CERS3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.229 CHRNA3 Rhiannon Mellis gene: CHRNA3 was added
gene: CHRNA3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Review for gene: CHRNA3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.229 CHRNB1 Rhiannon Mellis gene: CHRNB1 was added
gene: CHRNB1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Review for gene: CHRNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 CHRNE Rhiannon Mellis gene: CHRNE was added
gene: CHRNE was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
Review for gene: CHRNE was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Phenotype on OMIM reported as including arthrogryposis multiplex in severe cases. Decreased fetal movements in some cases.
Sources: Expert list
Fetal anomalies v1.229 CNBP Rhiannon Mellis gene: CNBP was added
gene: CNBP was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668
Review for gene: CNBP was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.229 COG6 Rhiannon Mellis gene: COG6 was added
gene: COG6 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328
Review for gene: COG6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.229 IFT52 Arina Puzriakova Publications for gene: IFT52 were set to
Fetal anomalies v1.228 COL12A1 Rhiannon Mellis gene: COL12A1 was added
gene: COL12A1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL12A1 were set to Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470
Review for gene: COL12A1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis
Sources: Expert list
Fetal anomalies v1.228 COLQ Rhiannon Mellis gene: COLQ was added
gene: COLQ was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLQ were set to PMID: 9689136; 11865139
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034
Review for gene: COLQ was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: I can’t see any reported cases specifically with arthrogryposis, but some cases presented at birth with hypotonia/weakness/fatigability. PMID: 9689136; 11865139. Therefore included on basis of severe neonatal phenotype that may conceivably also present prenatally.
Sources: Expert list
Fetal anomalies v1.228 CREB3L1 Rhiannon Mellis gene: CREB3L1 was added
gene: CREB3L1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229
Review for gene: CREB3L1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.228 CRIPT Rhiannon Mellis gene: CRIPT was added
gene: CRIPT was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789
Review for gene: CRIPT was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities
Sources: Expert list
Fetal anomalies v1.228 CTU2 Rhiannon Mellis gene: CTU2 was added
gene: CTU2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Review for gene: CTU2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.228 CYP26B1 Rhiannon Mellis gene: CYP26B1 was added
gene: CYP26B1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Review for gene: CYP26B1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Craniosynostosis
Sources: Expert list
Fetal anomalies v1.228 CYP4F22 Rhiannon Mellis gene: CYP4F22 was added
gene: CYP4F22 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
Review for gene: CYP4F22 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.226 DIAPH1 Rhiannon Mellis gene: DIAPH1 was added
gene: DIAPH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632
Review for gene: DIAPH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.226 DISP1 Rhiannon Mellis gene: DISP1 was added
gene: DISP1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DISP1 were set to 27363716
Phenotypes for gene: DISP1 were set to Holoprosencephaly
Review for gene: DISP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Holoprosencephaly
Sources: Expert list
Fetal anomalies v1.225 DLX5 Rhiannon Mellis gene: DLX5 was added
gene: DLX5 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600
Review for gene: DLX5 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.225 DNAAF2 Rhiannon Mellis gene: DNAAF2 was added
gene: DNAAF2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518
Review for gene: DNAAF2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.225 DNAI2 Rhiannon Mellis gene: DNAI2 was added
gene: DNAI2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444
Review for gene: DNAI2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.225 DNAJB11 Rhiannon Mellis gene: DNAJB11 was added
gene: DNAJB11 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061
Review for gene: DNAJB11 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease
Sources: Expert list
Fetal anomalies v1.225 DNAL1 Rhiannon Mellis gene: DNAL1 was added
gene: DNAL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017
Review for gene: DNAL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Primary ciliary disorders

Additional comment: causes situs inversus
Sources: Expert list
Fetal anomalies v1.225 DNM1L Rhiannon Mellis gene: DNM1L was added
gene: DNM1L was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
Review for gene: DNM1L was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Peroxisomal disorders
Sources: Expert list
Fetal anomalies v1.225 ICK Arina Puzriakova Publications for gene: ICK were set to
Fetal anomalies v1.222 HMGA2 Arina Puzriakova Publications for gene: HMGA2 were set to
Fetal anomalies v1.218 AKT2 Arina Puzriakova Publications for gene: AKT2 were set to
Fetal anomalies v1.215 DNM2 Rhiannon Mellis gene: DNM2 was added
gene: DNM2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DNM2 were set to PMID: 30208955
Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368
Review for gene: DNM2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis

Additional comment: AR Phenotype = lethal congenital contracture syndrome – definite prenatal phenotype with arthrogryposis, decreased fetal movements, polyhydramnios. Mutations only identified in three siblings although supported by animal models --> Moderate evidence for arthrogryposis --> Made green on arthrogryposis panel after internal discussion (Jan 2017)

NB in 2018 a further report of 3 unrelated cases with heterozygous DNM2 pathogenic variants with a more severe phenotype than usual for the AD disease (centronuclear myopathy) – all 3 had severe hypotonia and respiratory distress from birth. 1 had reduced fetal movements, polyhydramnios, distal contractures at birth (born at 29/40). 1 had micrognathia and clenched fists prenatally, multiple contractures at birth. All 3 were ventilator-dependent and died within first few months of life. (i.e. some overlap with the lethal congenital contracture phenotype despite heterozygous variants). PMID: 30208955
Sources: Expert list
Fetal anomalies v1.215 DONSON Rhiannon Mellis gene: DONSON was added
gene: DONSON was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604
Review for gene: DONSON was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.215 DPM2 Rhiannon Mellis gene: DPM2 was added
gene: DPM2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042
Review for gene: DPM2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.215 DYNC2LI1 Rhiannon Mellis gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088
Review for gene: DYNC2LI1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting; Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.215 DZIP1L Rhiannon Mellis gene: DZIP1L was added
gene: DZIP1L was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610
Review for gene: DZIP1L was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel)
Sources: Expert list
Fetal anomalies v1.215 EML1 Rhiannon Mellis gene: EML1 was added
gene: EML1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, 600348
Review for gene: EML1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Hydrocephalus
Sources: Expert list
Fetal anomalies v1.215 EMX2 Rhiannon Mellis gene: EMX2 was added
gene: EMX2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EMX2 were set to Schizencephaly, 269160
Review for gene: EMX2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.215 FAM46A Rhiannon Mellis gene: FAM46A was added
gene: FAM46A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII
Review for gene: FAM46A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 FKBP10 Rhiannon Mellis gene: FKBP10 was added
gene: FKBP10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1; Osteogenesis imperfecta, type XI
Review for gene: FKBP10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 FUT8 Rhiannon Mellis gene: FUT8 was added
gene: FUT8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1
Review for gene: FUT8 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 FZD2 Rhiannon Mellis gene: FZD2 was added
gene: FZD2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FZD2 were set to Omodysplasia 2
Review for gene: FZD2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.215 GALNT2 Rhiannon Mellis gene: GALNT2 was added
gene: GALNT2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt
Review for gene: GALNT2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.215 GANAB Rhiannon Mellis gene: GANAB was added
gene: GANAB was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3
Review for gene: GANAB was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease
Sources: Expert list
Fetal anomalies v1.215 GATA3 Rhiannon Mellis gene: GATA3 was added
gene: GATA3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Review for gene: GATA3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.215 GFPT1 Rhiannon Mellis gene: GFPT1 was added
gene: GFPT1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation
Sources: Expert list
Fetal anomalies v1.214 GLI1 Rhiannon Mellis gene: GLI1 was added
gene: GLI1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400
Review for gene: GLI1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders
Sources: Expert list
Fetal anomalies v1.214 GSC Rhiannon Mellis gene: GSC was added
gene: GSC was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
Review for gene: GSC was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.214 HADHB Rhiannon Mellis gene: HADHB was added
gene: HADHB was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency
Review for gene: HADHB was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders

Additional comment: Different clinical forms, including rapidly progressive neonatal onset with early death - associated with hydrops prenatally
Sources: Expert list
Fetal anomalies v1.214 HMGA2 Rhiannon Mellis gene: HMGA2 was added
gene: HMGA2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5
Review for gene: HMGA2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Silver Russell syndrome
Sources: Expert list
Fetal anomalies v1.214 ICK Rhiannon Mellis gene: ICK was added
gene: ICK was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia
Review for gene: ICK was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting; Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 IDH1 Rhiannon Mellis gene: IDH1 was added
gene: IDH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH1 were set to 22025298; 22057236; 22057234; 24049096
Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000
Review for gene: IDH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia

Copied from skeletal dysplasias panel: Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), disorganized development of skeletal components gp of SD - Somatic mosaicism seen in at least 3 cases with enchondromatosis (various types)/ metaphyseal chondromatosis. amber/green -Somatic mosaic missense variants in enchondromas. Listed in Bonafe (MetaphysealchondromatosiswithD-2-hydroxyglutaric aciduria).
Sources: Expert list
Fetal anomalies v1.214 IFT52 Rhiannon Mellis gene: IFT52 was added
gene: IFT52 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly
Review for gene: IFT52 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 IFT81 Rhiannon Mellis gene: IFT81 was added
gene: IFT81 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly
Review for gene: IFT81 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies
Sources: Expert list
Fetal anomalies v1.214 KATNB1 Rhiannon Mellis gene: KATNB1 was added
gene: KATNB1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly
Review for gene: KATNB1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.214 KIAA0753 Rhiannon Mellis gene: KIAA0753 was added
gene: KIAA0753 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV
Review for gene: KIAA0753 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.214 KNL1 Rhiannon Mellis gene: KNL1 was added
gene: KNL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive
Review for gene: KNL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.214 LRRC56 Rhiannon Mellis gene: LRRC56 was added
gene: LRRC56 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39
Review for gene: LRRC56 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism
Sources: Expert list
Fetal anomalies v1.214 MACF1 Rhiannon Mellis gene: MACF1 was added
gene: MACF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation
Review for gene: MACF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia; Cerebral malformations; Malformations of cortical development
Sources: Expert list
Fetal anomalies v1.214 MAP3K20 Rhiannon Mellis gene: MAP3K20 was added
gene: MAP3K20 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion
Review for gene: MAP3K20 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MEIS2 Rhiannon Mellis gene: MEIS2 was added
gene: MEIS2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and mental retardation
Review for gene: MEIS2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.214 MESD Rhiannon Mellis gene: MESD was added
gene: MESD was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX
Review for gene: MESD was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta
Sources: Expert list
Fetal anomalies v1.214 MRAS Rhiannon Mellis gene: MRAS was added
gene: MRAS was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MRAS were set to Noonan syndrome 11
Review for gene: MRAS was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): RASopathies
Sources: Expert list
Fetal anomalies v1.214 MSMO1 Rhiannon Mellis gene: MSMO1 was added
gene: MSMO1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis
Review for gene: MSMO1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Sources: Expert list
Fetal anomalies v1.214 MSTO1 Rhiannon Mellis gene: MSTO1 was added
gene: MSTO1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia
Review for gene: MSTO1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYH2 Rhiannon Mellis gene: MYH2 was added
gene: MYH2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia
Review for gene: MYH2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comments: Congenital contractures in some which improve with time - Contractures at birth are described (in some cases) so could be detected prenatally.
Sources: Expert list
Fetal anomalies v1.214 MYH7 Rhiannon Mellis gene: MYH7 was added
gene: MYH7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809
Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5
Review for gene: MYH7 was set to GREEN
Added comment: Currently Green on arthrogryposis panel but no clear association with arthrogryposis in literature, it seems to be a more a slowly progressive myopathy phenotype.

However, there are four reported cases of fetal cardiomyopathy related to MYH7, detectable on ultrasound. PMID: 22859017, PMID: 25547560, PMID: 26337809
Sources: Literature
Fetal anomalies v1.214 MYL1 Rhiannon Mellis gene: MYL1 was added
gene: MYL1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to PMID: 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy
Review for gene: MYL1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Predominant phenotype is severe hypotonia and respiratory failure from birth. 2 patients are reported: one had polyhydramnios and normal fetal movements, with mild flexion contractures at birth. The other had normal liquor volume, reduced fetal movements, no contractures. (PMID: 30215711). But severe neonatal phenotype so include as relevant.
Sources: Expert list
Fetal anomalies v1.214 MYMK Rhiannon Mellis gene: MYMK was added
gene: MYMK was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome
Review for gene: MYMK was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Clefting; Hydrocephalus; Neuromuscular disorders

Additional comment: Phenotype includes congenital contractures, talipes, Pierre-Robin sequence, clefts, reduced fetal movements.
Sources: Expert list
Fetal anomalies v1.214 MYO18B Rhiannon Mellis gene: MYO18B was added
gene: MYO18B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
Review for gene: MYO18B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYO9A Rhiannon Mellis gene: MYO9A was added
gene: MYO9A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic
Review for gene: MYO9A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.214 MYOCD Rhiannon Mellis gene: MYOCD was added
gene: MYOCD was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYOCD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYOCD were set to Megabladder, congenital
Review for gene: MYOCD was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.214 NADSYN1 Rhiannon Mellis gene: NADSYN1 was added
gene: NADSYN1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3
Review for gene: NADSYN1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.214 NECTIN1 Rhiannon Mellis gene: NECTIN1 was added
gene: NECTIN1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7
Review for gene: NECTIN1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Clefting
Sources: Expert list
Fetal anomalies v1.213 NIPAL4 Rhiannon Mellis gene: NIPAL4 was added
gene: NIPAL4 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6
Review for gene: NIPAL4 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.213 NXN Rhiannon Mellis gene: NXN was added
gene: NXN was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2
Review for gene: NXN was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.210 TNNT3 Arina Puzriakova Publications for gene: TNNT3 were set to 32779773
Fetal anomalies v1.209 PAX7 Rhiannon Mellis gene: PAX7 was added
gene: PAX7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis
Review for gene: PAX7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.209 PBX1 Rhiannon Mellis gene: PBX1 was added
gene: PBX1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): CAKUT
Sources: Expert list
Fetal anomalies v1.209 PFKM Rhiannon Mellis gene: PFKM was added
gene: PFKM was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII
Review for gene: PFKM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: literature supports arthrogryposis in severe infantile form
Sources: Expert list, Literature
Fetal anomalies v1.209 PIBF1 Rhiannon Mellis gene: PIBF1 was added
gene: PIBF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33
Review for gene: PIBF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel
Sources: Expert list
Fetal anomalies v1.209 TMX2 Arina Puzriakova Publications for gene: TMX2 were set to
Fetal anomalies v1.206 TMEM98 Arina Puzriakova Publications for gene: TMEM98 were set to
Fetal anomalies v1.205 PIH1D3 Rhiannon Mellis gene: PIH1D3 was added
gene: PIH1D3 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked
Review for gene: PIH1D3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list
Fetal anomalies v1.205 PIK3C2A Rhiannon Mellis gene: PIK3C2A was added
gene: PIK3C2A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome
Review for gene: PIK3C2A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.205 PLAG1 Rhiannon Mellis gene: PLAG1 was added
gene: PLAG1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4
Review for gene: PLAG1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Silver Russell syndrome
Sources: Expert list
Fetal anomalies v1.205 PLG Rhiannon Mellis gene: PLG was added
gene: PLG was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I
Review for gene: PLG was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Hydrocephalus

Additional comment: structural features detectable prenatally = -Occlusive hydrocephalus, congenital; Dandy-Walker malformation; Cerebellar hypoplasia
Sources: Expert list
Fetal anomalies v1.205 POLG2 Rhiannon Mellis gene: POLG2 was added
gene: POLG2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Review for gene: POLG2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.205 POP1 Rhiannon Mellis gene: POP1 was added
gene: POP1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2
Review for gene: POP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.205 PRKAG2 Rhiannon Mellis gene: PRKAG2 was added
gene: PRKAG2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital
Review for gene: PRKAG2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.203 TMEM38B Arina Puzriakova Publications for gene: TMEM38B were set to
Fetal anomalies v1.202 PYGM Rhiannon Mellis gene: PYGM was added
gene: PYGM was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease
Review for gene: PYGM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.201 RAB33B Rhiannon Mellis gene: RAB33B was added
gene: RAB33B was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2
Review for gene: RAB33B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.201 RBBP8 Rhiannon Mellis gene: RBBP8 was added
gene: RBBP8 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2
Review for gene: RBBP8 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly
Sources: Expert list
Fetal anomalies v1.200 RPL10 Rhiannon Mellis gene: RPL10 was added
gene: RPL10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Review for gene: RPL10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly
Sources: Expert list
Fetal anomalies v1.200 TENM3 Arina Puzriakova Publications for gene: TENM3 were set to
Fetal anomalies v1.197 TCTEX1D2 Arina Puzriakova Publications for gene: TCTEX1D2 were set to
Fetal anomalies v1.196 RPS7 Rhiannon Mellis gene: RPS7 was added
gene: RPS7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8
Review for gene: RPS7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Radial dysplasia
Sources: Expert list
Fetal anomalies v1.196 RRAS2 Rhiannon Mellis gene: RRAS2 was added
gene: RRAS2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12
Review for gene: RRAS2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): RASopathies
Sources: Expert list
Fetal anomalies v1.195 SCLT1 Rhiannon Mellis gene: SCLT1 was added
gene: SCLT1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCLT1 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX; Senior-Løken Syndrome
Review for gene: SCLT1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Rare multisystem ciliopathy Super panel


Copied from rare multisystem ciliopathies panel:
PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4),

PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family.

PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein.

= 3 cases plus a mouse model and functional evidence that the protein is a ciliary protein.
Sources: Literature
Fetal anomalies v1.194 SDR9C7 Rhiannon Mellis gene: SDR9C7 was added
gene: SDR9C7 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13
Review for gene: SDR9C7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Autosomal recessive congenital ichthyosis
Sources: Expert list
Fetal anomalies v1.193 SERPINF1 Rhiannon Mellis gene: SERPINF1 was added
gene: SERPINF1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI
Review for gene: SERPINF1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.193 SERPINH1 Rhiannon Mellis gene: SERPINH1 was added
gene: SERPINH1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X
Review for gene: SERPINH1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.193 SGCG Rhiannon Mellis gene: SGCG was added
gene: SGCG was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5
Review for gene: SGCG was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Fetal anomalies v1.193 SULT2B1 Arina Puzriakova Publications for gene: SULT2B1 were set to
Fetal anomalies v1.192 SIX6 Rhiannon Mellis gene: SIX6 was added
gene: SIX6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy
Review for gene: SIX6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Anophthalmia and microphthalmia
Sources: Literature
Fetal anomalies v1.192 SLC18A3 Rhiannon Mellis gene: SLC18A3 was added
gene: SLC18A3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to PMID: 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic
Review for gene: SLC18A3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Neuromuscular disorders
Sources: Literature
Fetal anomalies v1.190 ADAMTS3 Arina Puzriakova Publications for gene: ADAMTS3 were set to
Fetal anomalies v1.189 SLC29A3 Rhiannon Mellis gene: SLC29A3 was added
gene: SLC29A3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome
Review for gene: SLC29A3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Skeletal dysplasia
Sources: Literature
Fetal anomalies v1.187 SMPD4 Rhiannon Mellis gene: SMPD4 was added
gene: SMPD4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to PMID: 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Review for gene: SMPD4 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Arthrogryposis; Cerebellar hypoplasia

Additional comment: Documented fetal phenotype with IUGR, microcephaly, arthrogryposis, and structural brain anomalies in some. (32 reported cases from 12 families) PMID: 31495489
Sources: Literature
Fetal anomalies v1.187 SNX10 Rhiannon Mellis gene: SNX10 was added
gene: SNX10 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8
Review for gene: SNX10 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Hydrocephalus; Osteopetrosis; Skeletal dysplasia
Sources: Expert list
Fetal anomalies v1.187 SOX18 Rhiannon Mellis gene: SOX18 was added
gene: SOX18 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome
Review for gene: SOX18 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Primary lymphoedema
Sources: Literature, Expert list
Fetal anomalies v1.187 SOX6 Rhiannon Mellis gene: SOX6 was added
gene: SOX6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome
Review for gene: SOX6 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Craniosynostosis
Sources: Literature
Fetal anomalies v1.187 SP7 Rhiannon Mellis gene: SP7 was added
gene: SP7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII
Review for gene: SP7 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Literature
Fetal anomalies v1.187 STAC3 Rhiannon Mellis gene: STAC3 was added
gene: STAC3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to PMID: 30168660
Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch
Review for gene: STAC3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Documented arthrogryposis, also cleft palate, polyhydramnios and reduced fetal movements. PMID: 30168660
Sources: Literature
Fetal anomalies v1.187 STRADA Rhiannon Mellis gene: STRADA was added
gene: STRADA was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy
Review for gene: STRADA was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.187 ERCC5 Arina Puzriakova Publications for gene: ERCC5 were set to
Fetal anomalies v1.185 SULT2B1 Rhiannon Mellis gene: SULT2B1 was added
gene: SULT2B1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14
Review for gene: SULT2B1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Autosomal recessive congenital ichthyosis). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TBC1D32 Rhiannon Mellis gene: TBC1D32 was added
gene: TBC1D32 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556
Phenotypes for gene: TBC1D32 were set to OFD IX
Review for gene: TBC1D32 was set to GREEN
Added comment: Now 5 families reported:

The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype:

- One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs
- The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet

- There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly
Sources: Literature
Fetal anomalies v1.185 TCTEX1D2 Rhiannon Mellis gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly
Review for gene: TCTEX1D2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TENM3 Rhiannon Mellis gene: TENM3 was added
gene: TENM3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9
Review for gene: TENM3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMEM38B Rhiannon Mellis gene: TMEM38B was added
gene: TMEM38B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV
Review for gene: TMEM38B was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Osteogenesis imperfecta; Skeletal dysplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMEM98 Rhiannon Mellis gene: TMEM98 was added
gene: TMEM98 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM98 were set to Nanophthalmos 4
Review for gene: TMEM98 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TMX2 Rhiannon Mellis gene: TMX2 was added
gene: TMX2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Review for gene: TMX2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cerebral malformations; Malformations of cortical development; Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TNNT3 Rhiannon Mellis gene: TNNT3 was added
gene: TNNT3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNT3 were set to 32779773
Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2
Mode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: TNNT3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: Clearly documented phenotype of distal arthrogryposis. Also, recent paper in Prenatal Diagnosis reporting a het pathogenic variant in TNNT3 in a fetus with FADS; that variant has previously only been described in a family with much milder distal arthrogryposis phenotype. PMID: 32779773

(copied from OMIM): In in vitro studies, Robinson et al. (2007) demonstrated that the TNNI2 R174Q (191043.0001) and R156X (191043.0002) mutations and the TNNT3 mutation R63H (600692.0001) resulted in a gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility. In patients, Robinson et al. (2007) concluded that the mutation would cause increased tension in developing muscles, thus resulting in contractures and limb deformities via an active process rather than a passive process. These findings implicated disturbed muscle function as the pathogenic mechanism underlying DA2B.
Sources: Literature
Fetal anomalies v1.185 TOR1A Rhiannon Mellis gene: TOR1A was added
gene: TOR1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 29053766; 28516161
Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5
Review for gene: TOR1A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: documented phenotype of severe arthrogryposis multiplex congenital with prenatal onset
Sources: Literature
Fetal anomalies v1.185 TRAF3IP1 Rhiannon Mellis gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9
Review for gene: TRAF3IP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TRAP1 Rhiannon Mellis gene: TRAP1 was added
gene: TRAP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL
Review for gene: TRAP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TRMT10A Rhiannon Mellis gene: TRMT10A was added
gene: TRMT10A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1
Review for gene: TRMT10A was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 TSFM Rhiannon Mellis gene: TSFM was added
gene: TSFM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3
Review for gene: TSFM was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Neuromuscular disorders). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Additional comment: IUGR, decreased fetal movements, reduced brain gyri
Sources: Literature
Fetal anomalies v1.185 TXNDC15 Rhiannon Mellis gene: TXNDC15 was added
gene: TXNDC15 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome
Review for gene: TXNDC15 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Limb disorders; Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Comment from copied from skeletal ciliopathies panel:
Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis.
Sources: Other
Sources: Literature
Fetal anomalies v1.185 USP9X Rhiannon Mellis reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MENTAL RETARDATION, X-LINKED 99, MRX99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.185 VAMP1 Rhiannon Mellis gene: VAMP1 was added
gene: VAMP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25
Review for gene: VAMP1 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 VEGFC Rhiannon Mellis gene: VEGFC was added
gene: VEGFC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VEGFC were set to Lymphatic malformation 4
Review for gene: VEGFC was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 WDR81 Rhiannon Mellis gene: WDR81 was added
gene: WDR81 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies
Review for gene: WDR81 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (Cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 AKT2 Rhiannon Mellis gene: AKT2 was added
gene: AKT2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy
Review for gene: AKT2 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (BWS and Overgrowth panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 ADAMTS3 Rhiannon Mellis gene: ADAMTS3 was added
gene: ADAMTS3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3
Review for gene: ADAMTS3 was set to GREEN
Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Fetal anomalies v1.185 NUAK2 Arina Puzriakova Publications for gene: NUAK2 were set to 32845958
Fetal anomalies v1.181 CALCRL Arina Puzriakova Publications for gene: CALCRL were set to 30115739
Fetal anomalies v1.177 TMEM260 Arina Puzriakova Publications for gene: TMEM260 were set to
Fetal anomalies v1.175 GREB1L Arina Puzriakova Publications for gene: GREB1L were set to 29261186; 29100091
Fetal anomalies v1.172 AGRN Arina Puzriakova Publications for gene: AGRN were set to
Fetal anomalies v1.169 NONO Arina Puzriakova Publications for gene: NONO were set to
Fetal anomalies v1.166 SNAP29 Arina Puzriakova Publications for gene: SNAP29 were set to
Fetal anomalies v1.164 NUP88 Arina Puzriakova Publications for gene: NUP88 were set to PMID: 30543681
Fetal anomalies v1.161 TRAPPC12 Arina Puzriakova Publications for gene: TRAPPC12 were set to
Fetal anomalies v1.160 TRAPPC12 Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Progressive Childhood Encephalopathy and Golgi Dysfunction to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Fetal anomalies v1.158 TRAPPC12 Arina Puzriakova reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32347653, 28777934; Phenotypes: Hydrocephaly, Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.157 NEK9 Arina Puzriakova Publications for gene: NEK9 were set to 26908619
Fetal anomalies v1.152 ATP1A2 Arina Puzriakova Publications for gene: ATP1A2 were set to 30690204
Fetal anomalies v1.151 TMEM216 Arina Puzriakova Publications for gene: TMEM216 were set to
Fetal anomalies v1.148 TMEM107 Arina Puzriakova Publications for gene: TMEM107 were set to 26123494; 26518474; 26595381
Fetal anomalies v1.146 TMEM107 Arina Puzriakova Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381
Fetal anomalies v1.144 KIF14 Arina Puzriakova Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805
Fetal anomalies v1.141 B9D1 Arina Puzriakova Publications for gene: B9D1 were set to
Fetal anomalies v1.138 B9D2 Arina Puzriakova Publications for gene: B9D2 were set to PMID: 21763481; 26092869
Fetal anomalies v1.135 AKT1 Eleanor Williams Publications for gene: AKT1 were set to
Fetal anomalies v1.132 TBCD Arina Puzriakova Phenotypes for gene: TBCD were changed from Early-Onset Neurodegenerative Encephalopathy to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
Fetal anomalies v1.131 TRIP4 Arina Puzriakova Publications for gene: TRIP4 were set to
Fetal anomalies v1.130 TRIP4 Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
Fetal anomalies v1.123 AARS Arina Puzriakova Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593
Fetal anomalies v1.119 FKBP8 Eleanor Williams gene: FKBP8 was added
gene: FKBP8 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FKBP8 were set to 32969478
Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414
Review for gene: FKBP8 was set to AMBER
Added comment: Not associated with a phenotype in OMIM.

PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects.

Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered.
Sources: Literature
Fetal anomalies v1.117 SCN1A Arina Puzriakova Publications for gene: SCN1A were set to
Fetal anomalies v1.116 SCN1A Arina Puzriakova Added comment: Comment on list classification: Although it is anticipated that following birth early-onset seizures will likely represent the predominant characteristic of the phenotype, arthrogryposis multiplex congenita may be detected in utero as demonstrated with the cases in PMID:32928894. Therefore, this gene will be flagged for review at the next GMS panel update to assess whether this is sufficient for inclusion on this panel (added 'for-review' tag).
Fetal anomalies v1.115 MN1 Rhiannon Mellis gene: MN1 was added
gene: MN1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 31834374; 31839203; 15870292
Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774
Mode of pathogenicity for gene: MN1 was set to Other
Review for gene: MN1 was set to GREEN
Added comment: Copied from MN1 review on Cortical malformations panel:

Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P.

Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum - rhombencephalosynapsis).

Most variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model.
Sources: Literature
Fetal anomalies v1.114 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to
Fetal anomalies v1.110 MAPRE2 Arina Puzriakova Publications for gene: MAPRE2 were set to
Fetal anomalies v1.108 GFRA1 Zornitza Stark gene: GFRA1 was added
gene: GFRA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172
Phenotypes for gene: GFRA1 were set to Renal agenesis
Review for gene: GFRA1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. Also relevant to the CAKUT panel.
Sources: Literature
Fetal anomalies v1.103 USP18 Arina Puzriakova Publications for gene: USP18 were set to
Fetal anomalies v1.99 FOXC1 Eleanor Williams Publications for gene: FOXC1 were set to
Fetal anomalies v1.98 SMN1 Eleanor Williams Publications for gene: SMN1 were set to 11826188
Fetal anomalies v1.97 NUAK2 Zornitza Stark gene: NUAK2 was added
gene: NUAK2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUAK2 were set to 32845958
Phenotypes for gene: NUAK2 were set to Anencephaly
Review for gene: NUAK2 was set to AMBER
Added comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out.
Sources: Literature
Fetal anomalies v1.97 AHCY Arina Puzriakova Publications for gene: AHCY were set to 30121674; 20852937
Fetal anomalies v1.95 B9D2 Rhiannon Mellis gene: B9D2 was added
gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D2 were set to PMID: 21763481; 26092869
Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome
Review for gene: B9D2 was set to GREEN
gene: B9D2 was marked as current diagnostic
Added comment: 2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481)
2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869)

NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH.
Sources: Literature, NHS GMS
Fetal anomalies v1.95 TMEM107 Rhiannon Mellis gene: TMEM107 was added
gene: TMEM107 was added to Fetal anomalies. Sources: Literature,NHS GMS
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381
Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI
Review for gene: TMEM107 was set to GREEN
gene: TMEM107 was marked as current diagnostic
Added comment: 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494)
1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474)
1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381)

NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH
Sources: Literature, NHS GMS
Fetal anomalies v1.95 KIF14 Rhiannon Mellis gene: KIF14 was added
gene: KIF14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805
Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12; Microcephaly 20, primary
Review for gene: KIF14 was set to GREEN
gene: KIF14 was marked as current diagnostic
Added comment: Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419)
Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224)

Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560)
Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805)
Sources: Literature
Fetal anomalies v1.95 SLC20A1 Zornitza Stark gene: SLC20A1 was added
gene: SLC20A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A1 were set to 32850778; 27013921
Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)
Review for gene: SLC20A1 was set to GREEN
gene: SLC20A1 was marked as current diagnostic
Added comment: Three individuals and animal model supporting role of this gene in urinary tract and urorectal development. We have included on our CAKUT panel.
Sources: Literature
Fetal anomalies v1.95 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 32503408; 31423533
Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth
Review for gene: TRPM7 was set to AMBER
Added comment: I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association.
Sources: Literature
Fetal anomalies v1.95 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF2 were set to 32618121
Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops
Review for gene: GDF2 was set to RED
Added comment: Single family reported, two affected individuals. New MOI.

Monoallelic variants in this gene are associated with HHT/PAH.
Sources: Literature
Fetal anomalies v1.94 TOGARAM1 Arina Puzriakova gene: TOGARAM1 was added
gene: TOGARAM1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene.

Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: Literature
Fetal anomalies v1.91 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.90 SRY Eleanor Williams Mode of inheritance for gene: SRY was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.74 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Single family reported with several affected pregnancies.
Sources: Literature
Fetal anomalies v1.74 AMBRA1 Zornitza Stark gene: AMBRA1 was added
gene: AMBRA1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMBRA1 were set to 17589504; 32333458
Phenotypes for gene: AMBRA1 were set to Neural tube defects
Review for gene: AMBRA1 was set to GREEN
gene: AMBRA1 was marked as current diagnostic
Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects.
Sources: Literature
Fetal anomalies v1.74 CEP120 Rhiannon Mellis gene: CEP120 was added
gene: CEP120 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to PMID: 2720821; 25361962
Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly
Review for gene: CEP120 was set to GREEN
Added comment: PMID: 27208211 identifies CEP120 variants in 6 unrelated families, segregating with disease within the families, including four children with milder Joubert phenotype and two fetuses with prenatal phenotypes of more severe ciliopathy.

PMID: 25361962 describes 4 unrelated infants, 3 male and 1 female, with short-rib thoracic dysplasia and polydactyly (SRTD).

CEP120 is rated Green on the following PanelApp panels: Thoracic dystrophies, Skeletal dysplasia, Skeletal ciliopathies, Rare multisystem ciliopathy disorders.
Sources: Literature
Fetal anomalies v1.74 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to
Fetal anomalies v1.73 TMEM94 Rhiannon Mellis gene: TMEM94 was added
gene: TMEM94 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to PMID: 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies
Review for gene: TMEM94 was set to GREEN
Added comment: Literature reports 10 patients from 6 unrelated families, and a mouse model PMID: 30526868

Reviewed with Prof Lyn Chitty for fetally relevant phenotype (Yes - Congenital heart malformations including: Atrial septal defect; Ventricular septal defect; Pulmonary hypoplasia; Pulmonary atresia; Tetralogy of Fallot; Double outlet right ventricle
Sources: Literature, Expert Review
Fetal anomalies v1.73 GDF1 Rhiannon Mellis gene: GDF1 was added
gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340
Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark)
Review for gene: GDF1 was set to GREEN
Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257

Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340

Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes)

This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel.
Sources: Literature, Expert Review
Fetal anomalies v1.73 CFAP53 Rhiannon Mellis gene: CFAP53 was added
gene: CFAP53 was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 25504577; PMID: 26531781
Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive; Dextrocardia; Transposition of the great arteries; gut malrotation; midline liver; inverted spleen
Review for gene: CFAP53 was set to GREEN
Added comment: Literature reports 6 individuals from 4 families and a zebrafish model PMID: 22577226, PMID: 25504577, PMID: 26531781

Reviewed for fetally relevant phenotype by Prof Lyn Chitty (yes).

This gene appears on our local heterotaxy panel (NETRGL) and on the Panelapp laterality disorders and non-syndromic CHD panels (Green)
Sources: Literature, Expert Review
Fetal anomalies v1.73 ACVR2B Rhiannon Mellis gene: ACVR2B was added
gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia
Review for gene: ACVR2B was set to GREEN
Added comment: Reported in literature 3 unrelated cases PMID: 9916847 and a mouse model PMID: 9242489

Reviewed by Prof Lyn Chitty for fetally relevant phenotype (yes).

This gene is included in our local heterotaxy panel (NETRGL).
Sources: Expert Review, Literature
Fetal anomalies v1.73 COL3A1 Rhiannon Mellis gene: COL3A1 was added
gene: COL3A1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to PMID: 28258187; 28742248; 25205403; 27168972; 24922459
Phenotypes for gene: COL3A1 were set to HP:0002126; HP:0001883; HP:0006496
Penetrance for gene: COL3A1 were set to Incomplete
Review for gene: COL3A1 was set to GREEN
Added comment: On OMIM COL3A1 has a polymicrogyria phenotype in the biallelic form, as well as talipes and other features (PMID: 28258187; PMID: 28742248; PMID: 25205403). No specifically prenatal reports of polymicrogyria in the literature but this feature would be detectable on fetal US and especially on fetal MRI.

A monoallelic COL3A1 variant has been reported in one case in a prenatal exome series (PMID: 27168972), causing EDS IV with a prenatal phenotype of forearm hypoplasia and phalangeal defects. PMID: 24922459 evidences that limb hypoplasia/limb reduction is observed in a small subset of EDS IV patients (5 unrelated cases), as well as talipes in a larger number, and occasionally facial clefts – all of which would be prenatally detectable features.
Sources: Literature
Fetal anomalies v1.73 SHROOM4 Suzanne Drury gene: SHROOM4 was added
gene: SHROOM4 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 32565546
Phenotypes for gene: SHROOM4 were set to HP:0001274
Review for gene: SHROOM4 was set to AMBER
Added comment: Reported in fetal case series of abnormal corpus callosum PMID:32565546. Case also had Blake's pouch cyst, Turner syndrome: mos46,X, psu idic(X)(p11.2)[19/45,X[6]
Sources: Literature
Fetal anomalies v1.73 NUP88 Julia Baptista gene: NUP88 was added
gene: NUP88 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to PMID: 30543681
Phenotypes for gene: NUP88 were set to fetal akinesia
Review for gene: NUP88 was set to RED
Added comment: Bonnin et al reported biallelic variants in two unrelated families.
A homozygous missense variant was identified in family A and the co-segregation data was supportive (tested 4 unaffected and 2 of the 4 affected fetuses). Compound heterozygous in-frame and nonsense variants were identified in the proband in family B (co-segregation studies in 2 unaffected sibs). The clinical features included fetal akinesia and arthrogryposis multiplex congenita. Polyhydramnios, muscle atrophy and dysmorphic features were also described.
Sources: Literature
Fetal anomalies v1.70 ITGA8 Rebecca Foulger Publications for gene: ITGA8 were set to
Fetal anomalies v1.69 REN Rebecca Foulger Publications for gene: REN were set to
Fetal anomalies v1.68 ACTG2 Rebecca Foulger Publications for gene: ACTG2 were set to 25998219; 30712878
Fetal anomalies v1.66 GREB1L Rebecca Foulger Publications for gene: GREB1L were set to 29261186
Fetal anomalies v1.65 GREB1L Rebecca Foulger Added comment: Comment on list classification: Added to panel and set rating to Amber. Not yet associated with a disorder in Gene2Phenotype, but 2 fetal cases presented in PMID:29261186. Renal agenesis phenotype is relevant to the panel. Therefore Amber awaiting further cases.
Fetal anomalies v1.64 GREB1L Rebecca Foulger gene: GREB1L was added
gene: GREB1L was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis
Added comment: Added to Fetal panel based on PMID:29261186 (Boissel et al., 2018) who performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases presenting with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X).
Sources: Literature
Fetal anomalies v1.61 ACTG2 Rebecca Foulger Publications for gene: ACTG2 were set to
Fetal anomalies v1.60 ACE Rebecca Foulger commented on gene: ACE: PMID:30058238 (Bhowmik et al., 2018) report a 32-week old fetus with severe early onset oligohydramnios. A similarly affected sibling was reported from a previous pregnancy. Exome sequencing revealed a homozygous 3' splice-site variant in intron 17 of ACE gene, which confirmed AR renal tubular dysgenesis. It also facilitated prenatal diagnosis in a subsequent pregnancy.
Fetal anomalies v1.60 ACE Rebecca Foulger Publications for gene: ACE were set to
Fetal anomalies v1.55 PSAT1 Rebecca Foulger Publications for gene: PSAT1 were set to
Fetal anomalies v1.50 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to 26453364; 31420886
Fetal anomalies v1.48 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to
Fetal anomalies v1.43 SMG9 Rebecca Foulger Publications for gene: SMG9 were set to
Fetal anomalies v1.41 SMG9 Rebecca Foulger commented on gene: SMG9: PMID:27018474. Shaheen et al, 2016 report 2 consanguineous families with different homozygous LOF variants in SMG9 and and a similar set of congenital anomalies including craniofacial dysmorphism, and major brain and heart malformations.
Fetal anomalies v1.39 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to
Fetal anomalies v1.32 FGF20 Rebecca Foulger gene: FGF20 was added
gene: FGF20 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF20 were set to 22698282; 23112089
Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721
Added comment: Added to Fetal panel based on literature search. PMID:22698282. Barak et al., 2012 identify a homozygous frameshift truncating variant (c.337delG) in FGF20, which segregated with the disorder in a consanguineous familly. Pregnancies showed anhydramnios and the fetuses had bilateral renal agenesis. All pregnancies were terminated. Mouse model shows loss of Fgf20 resulted in kidney agenesis. Additional papers report functional experiments (in mice) that confirm role of FGF20 in kidney development (e.g. PMID:23112089).
Sources: Literature
Fetal anomalies v1.30 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448; 28749478
Fetal anomalies v1.29 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448
Fetal anomalies v1.28 EXOC3L2 Rebecca Foulger gene: EXOC3L2 was added
gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation
Added comment: Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound.
Sources: Literature
Fetal anomalies v1.27 DHCR7 Rebecca Foulger Publications for gene: DHCR7 were set to
Fetal anomalies v1.23 POLE Rebecca Foulger Publications for gene: POLE were set to 23230001
Fetal anomalies v1.22 POLE Rebecca Foulger Phenotypes for gene: POLE were changed from IUGR; severe growth failure of prenatal onset to IUGR; severe growth failure of prenatal onset; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Fetal anomalies v1.20 POLE Rebecca Foulger gene: POLE was added
gene: POLE was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 23230001
Phenotypes for gene: POLE were set to IUGR; severe growth failure of prenatal onset
Added comment: Added to panel based on prenatal phenotype reported in PMID:30503519: (Logan et al., 2018) report biallelic variants in POLE in 15 indivs from 12 families (mix of countries). All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. Phenotypically, affected individuals all had IUGR and severe growth failure of prenatal onset.
Sources: Literature
Fetal anomalies v1.19 MYL9 Rebecca Foulger Publications for gene: MYL9 were set to
Fetal anomalies v1.16 MYH11 Rebecca Foulger Publications for gene: MYH11 were set to
Fetal anomalies v1.14 MYH11 Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to BIALLELIC to match papers: compound het and homozygous MYH11 variants associated with MMIH.
Fetal anomalies v1.13 MYLK Rebecca Foulger Publications for gene: MYLK were set to
Fetal anomalies v1.10 MYL9 Rebecca Foulger gene: MYL9 was added
gene: MYL9 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.9 LMOD1 Rebecca Foulger gene: LMOD1 was added
gene: LMOD1 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.8 MYH11 Rebecca Foulger gene: MYH11 was added
gene: MYH11 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH11 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH).
Sources: Expert list
Fetal anomalies v1.7 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities
Review for gene: PAICS was set to RED
Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Sources: Literature
Fetal anomalies v1.5 CEP55 Rebecca Foulger Publications for gene: CEP55 were set to 28264986; 28295209
Fetal anomalies v1.4 CEP55 Rebecca Foulger gene: CEP55 was added
gene: CEP55 was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28264986; 28295209
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes
Added comment: Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel.
Sources: Other
Fetal anomalies v1.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 30121674; 20852937
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency
Review for gene: AHCY was set to AMBER
Added comment: Please note recent additional report of this condition presenting prenatally with hydrops.
Sources: Expert list
Fetal anomalies v1.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Review for gene: ATP1A2 was set to AMBER
gene: ATP1A2 was marked as current diagnostic
Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Sources: Expert list
Fetal anomalies v0.370 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to 27751653; 29274205; 28635954
Fetal anomalies v0.367 BICD2 Rebecca Foulger commented on gene: BICD2: OMIM Clinical Synopsis for MIM:618291 now mentions onset in Utero, including fractures in utero and decreased fetal movements, as noted by Rhiannon Mellis.
Fetal anomalies v0.365 BICD2 Rebecca Foulger Publications for gene: BICD2 were set to
Fetal anomalies v0.361 KLF1 Rebecca Foulger Publications for gene: KLF1 were set to
Fetal anomalies v0.356 FBN1 Rebecca Foulger Publications for gene: FBN1 were set to
Fetal anomalies v0.354 ALG3 Rebecca Foulger Publications for gene: ALG3 were set to
Fetal anomalies v0.353 SMN1 Rebecca Foulger Publications for gene: SMN1 were set to
Fetal anomalies v0.352 SCO2 Rebecca Foulger Publications for gene: SCO2 were set to
Fetal anomalies v0.349 SIK3 Rebecca Foulger gene: SIK3 was added
gene: SIK3 was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162
Added comment: Added to panel as suggested by Rhinannon Mellis. One pair of siblings with spondyloepimetaphyseal dysplasia reported in PMID:30232230 (Csukasi et al., 2018) plus one clinical case of suspected skeletal dysplasia prenatally.
Sources: Other
Fetal anomalies v0.347 GLA Rebecca Foulger gene: GLA was added
gene: GLA was added to Fetal anomalies. Sources: Other
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease, 301500
Added comment: Added GLA to panel based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH).
Sources: Other
Fetal anomalies v0.346 AMER1 Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.345 FAM58A Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4.
Fetal anomalies v0.343 NMNAT2 Rebecca Foulger Publications for gene: NMNAT2 were set to PMID: 31136762
Fetal anomalies v0.342 ANAPC1 Rebecca Foulger gene: ANAPC1 was added
gene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
Fetal anomalies v0.341 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Fetal anomalies. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to PMID: 31136762
Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398)
Sources: Research
Fetal anomalies v0.341 GJB2 Rebecca Foulger Publications for gene: GJB2 were set to 23035047
Fetal anomalies v0.339 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.333 VPS13B Rebecca Foulger Publications for gene: VPS13B were set to
Fetal anomalies v0.330 PDHA1 Rebecca Foulger Publications for gene: PDHA1 were set to
Fetal anomalies v0.329 SLC4A4 Rebecca Foulger Publications for gene: SLC4A4 were set to
Fetal anomalies v0.327 RAC1 Rebecca Foulger Publications for gene: RAC1 were set to 30712878
Fetal anomalies v0.324 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to AMBER
Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Sources: Literature
Fetal anomalies v0.321 SETD5 Anna de Burca Classified gene: SETD5 as Green List (high evidence)
Fetal anomalies v0.321 SETD5 Anna de Burca Gene: setd5 has been classified as Green List (High Evidence).
Fetal anomalies v0.311 SBDS Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443
Fetal anomalies v0.311 MANBA Rebecca Foulger commented on gene: MANBA: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later.
Fetal anomalies v0.311 GAA Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663
Fetal anomalies v0.311 SCO2 Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538
Fetal anomalies v0.311 SETD5 Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234
Fetal anomalies v0.311 GALC Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN
Fetal anomalies v0.311 TUBB4A Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FH Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 POLR3B Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.310 MYH10 Rebecca Foulger gene: MYH10 was added
gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH10 were set to 30712878
Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies
Fetal anomalies v0.310 NDUFAF5 Rebecca Foulger gene: NDUFAF5 was added
gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238
Fetal anomalies v0.310 INTU Rebecca Foulger gene: INTU was added
gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to 28289185; 30266093; 29451301
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Fetal anomalies v0.310 FRMD4A Rebecca Foulger gene: FRMD4A was added
gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Fetal anomalies v0.310 EIF2B2 Rebecca Foulger gene: EIF2B2 was added
gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 30266093; 28597716
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Fetal anomalies v0.310 DOK7 Rebecca Foulger gene: DOK7 was added
gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 30266093
Phenotypes for gene: DOK7 were set to ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300
Fetal anomalies v0.310 BCL9L Rebecca Foulger gene: BCL9L was added
gene: BCL9L was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047
Phenotypes for gene: BCL9L were set to Heterotaxy
Fetal anomalies v0.306 NDP Rebecca Foulger Publications for gene: NDP were set to
Fetal anomalies v0.304 IARS Rebecca Foulger Phenotypes for gene: IARS were changed from Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
Fetal anomalies v0.303 IARS Rebecca Foulger Publications for gene: IARS were set to
Fetal anomalies v0.302 IARS Rebecca Foulger Added comment: Comment on list classification: Promoted IARS from Amber to Green on advice from Genomics England clinical team. Although the DD-G2P Disease confidence rating is 'probable' for 'Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy', there are sufficient cases from the literature to support Green rating. As reviewed by Louise Daugherty on the 'Intellectual disability' panel: Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability.
Fetal anomalies v0.301 GBE1 Rebecca Foulger Publications for gene: GBE1 were set to
Fetal anomalies v0.297 DOLK Rebecca Foulger Publications for gene: DOLK were set to
Fetal anomalies v0.296 PDHB Anna de Burca gene: PDHB was added
gene: PDHB was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 26865159
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency
Review for gene: PDHB was set to AMBER
Added comment: PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects.
Sources: Literature
Fetal anomalies v0.295 PDHA1 Anna de Burca reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.295 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398; 29290337
Fetal anomalies v0.292 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398
Fetal anomalies v0.290 KIAA1109 Rebecca Foulger commented on gene: KIAA1109: PMID:30485398: Filatova et al. 2019 report a Russian family with fetal anomalies detected upon ultrasound scans of three pregnancies. The first pregnancy resulted in a miscarriage. The second and third pregnancies were terminated because of ultrasound fetal abnormalities. In the third pregnancy, anomalies included bilateral ventriculomegaly, arthrogryposis (radial clubhand, bilateral clubfoot, flexed deformity of hip, knee and ankle joints), bilateral pyelectasis, increased thickness of the nuchal‐fold, hypoplastic and low set ears- Sanger sequencing revealed that the polymalformative fetus had compound heterozygous KIAA1109 variants. One of the dichorionic twins in the 4th pregnancy had similar phenotype and biallelic KIAA1109 variants (the healthy twin had only one variant c.1932‐3A>G).
Fetal anomalies v0.289 KIAA1109 Rebecca Foulger Publications for gene: KIAA1109 were set to
Fetal anomalies v0.284 MYRF Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. MYRF gene was added to the panel and reviewed by Julia Baptista. Sufficient cases to support MYRF variants causing Cardiac-urogenital syndrome (MIM:618280) from Pinz et al 2018 (PMID:29446546), Chitayat et al., (PMID:30070761), Qi et al.,2018 (PMID:30532227) and Rossetti et al., 2019 (PMID: 31069960). The phenotype is fetally-relevant (includes congenital diaphragmatic hernia/CDH, genital defects and cardiac defects) with multiple papers reporting detection in-utero: In both patients identified in Pinz et al 2018, anomalies were detected by ultrasound at 20 weeks gestation: mesocardia without other signs of heterotaxy (Patient 1), and a complex congenital heart defect with pericardial effusion (Patient 2). Chitayat et al., report a fetus with a novel de novo LOF variant in MYRF and a hypoplastic left heart and female external genitalia. In Rossetti et al., 2019, cardiac malformation and/or CDH was detected on a prenatal ultrasound.
Fetal anomalies v0.283 MYRF Rebecca Foulger Publications for gene: MYRF were set to 30532227; 30985895; 31069960; 30070761; 29446546
Fetal anomalies v0.280 MYRF Rebecca Foulger Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 )
Fetal anomalies v0.276 PKD1 Rebecca Foulger commented on gene: PKD1: PMID:20558538 (Vujic et al., 2010) was added as a publication by Julia Baptista. The authors describe two pedigrees each with two patients with onset of polycystic kidney disease in-utero. Mutation analysis suggested that both families inherited, in trans, two incompletely penetrant PKD1 alleles, thus supporting autosomal recessive PKD.
Fetal anomalies v0.274 PKD1 Rebecca Foulger Publications for gene: PKD1 were set to
Fetal anomalies v0.274 PKD1 Rebecca Foulger Publications for gene: PKD1 were set to
Fetal anomalies v0.273 MYRF Julia Baptista gene: MYRF was added
gene: MYRF was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 )
Phenotypes for gene: MYRF were set to congenital diaphragmatic hernia, cardiac defect, disorders of sexual development
Review for gene: MYRF was set to GREEN
Added comment: Pinz et al. 2018 reported MYRF de novo pathogenic variants in 2 unrelated male infants with cardiac-urogenital syndrome (PMID: 29446546)
Chitayat et al. (2018) reported one additional male fetus with complex congenital heart disease and severe urogenital malformations (PMID: 30070761).
Qi et al. 2018 identified 7 patients from 6 families with heterozygous MYRF variants. All of the patients had cardiac defects. Urogenital defects were present in all 4 patients who were examined (PMID: 30532227).
Rosetti et al 2019 described de novo heterozygous MYRF variants in three males. Congenital heart disease was presnet in 2/3 and diaphragmatic hernia in 2/3.
Sources: Expert Review, Literature
Fetal anomalies v0.272 SOX9 Rebecca Foulger Publications for gene: SOX9 were set to
Fetal anomalies v0.271 L1CAM Rebecca Foulger Publications for gene: L1CAM were set to
Fetal anomalies v0.270 PIK3R2 Rebecca Foulger Publications for gene: PIK3R2 were set to
Fetal anomalies v0.269 RIT1 Rebecca Foulger Publications for gene: RIT1 were set to
Fetal anomalies v0.268 AMER1 Rebecca Foulger Publications for gene: AMER1 were set to 8425981
Fetal anomalies v0.267 AMER1 Rebecca Foulger Publications for gene: AMER1 were set to
Fetal anomalies v0.266 FANCB Rebecca Foulger Publications for gene: FANCB were set to
Fetal anomalies v0.265 CYP11A1 Rebecca Foulger Publications for gene: CYP11A1 were set to
Fetal anomalies v0.264 FLNA Rebecca Foulger Publications for gene: FLNA were set to
Fetal anomalies v0.263 MRPS22 Rebecca Foulger Publications for gene: MRPS22 were set to
Fetal anomalies v0.262 FOXP3 Rebecca Foulger Publications for gene: FOXP3 were set to
Fetal anomalies v0.261 PIK3CA Rebecca Foulger Publications for gene: PIK3CA were set to
Fetal anomalies v0.260 PTPN11 Rebecca Foulger Publications for gene: PTPN11 were set to
Fetal anomalies v0.259 FGFR2 Rebecca Foulger Publications for gene: FGFR2 were set to
Fetal anomalies v0.258 RIPK4 Rebecca Foulger Publications for gene: RIPK4 were set to
Fetal anomalies v0.257 HRAS Rebecca Foulger Publications for gene: HRAS were set to
Fetal anomalies v0.256 BBS4 Rebecca Foulger Publications for gene: BBS4 were set to
Fetal anomalies v0.255 PIEZO1 Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996; 23695678
Fetal anomalies v0.254 GJB2 Rebecca Foulger Publications for gene: GJB2 were set to
Fetal anomalies v0.253 BRAT1 Rebecca Foulger Publications for gene: BRAT1 were set to
Fetal anomalies v0.252 ATP7A Rebecca Foulger Publications for gene: ATP7A were set to
Fetal anomalies v0.251 HEXA Rebecca Foulger Publications for gene: HEXA were set to
Fetal anomalies v0.246 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006510; 31006513
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
Fetal anomalies v0.245 HNRNPK Rebecca Foulger Publications for gene: HNRNPK were set to 29904177; 30998304
Fetal anomalies v0.243 HNRNPK Rebecca Foulger gene: HNRNPK was added
gene: HNRNPK was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 29904177; 30998304
Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome
Fetal anomalies v0.240 DDX3X Rebecca Foulger Publications for gene: DDX3X were set to 30266093
Fetal anomalies v0.239 GK Rebecca Foulger Publications for gene: GK were set to
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Publications for gene: TUBB2A were set to
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Added comment: Comment on list classification: Kept rating as Green following an assessment of evidence linking TUBB2A and cortical malformations. TUBB2A is Green on the PanelApp panel 'Malformations of cortical development'. Two cases are listed in OMIM from Cushion et al. (2014, PMID:24702957) plus further cases of Structural brain abnormalities in patients with TUBB2A variants are reported in Rodan et al., 2017 (PMID:27770045), Lee et al., 2014 (PMID:25326637) and Ejaz et al., 2017 (PMID:28840640). PMID:30016746 (2018) provides a summary. PMID:25326637 phenotypes include polymicrogyria and microcephaly (the age of onset of microcephaly is not noted). PMID:28840640 phenotypes include polymicrogyria and Arthrogryposis. Therefore sufficient evidence linking TUBB2A to cortical malformations that may be detected in a fetus.
Fetal anomalies v0.229 SETD5 Rebecca Foulger Source Expert Review Red was added to SETD5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.228 SETD5 Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SETD5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.227 PROK2 Rebecca Foulger Publications for gene: PROK2 were set to 17054399
Fetal anomalies v0.225 SUZ12 Rebecca Foulger edited their review of gene: SUZ12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Fetal relevance is borderline- PMIDs:28229514 and 30019515 report a set of features where it is unclear if they would be detected prenatally, including one case of increased head circumference at birth (but also one case with reduced head circumference at birth) some facial and limb features etc. Evidence wise, there are just enough cases from the literature (2 papers from the same group) to support inclusion: Imagawa et al., 2017 (PMID:28229514) identified a missense somatic mosaic mutation (c.1829A>T, p.Glu610Val) in SUZ12 in a patient with clinically suspected Weaver syndrome. Imagawa et al., 2018 (PMID:30019515) report two further Weaver syndrome-like patients with SUZ12 variants (a missense and a frameshift). On balance, it was decided that SUZ12 should be included on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28229514, 30019515
Fetal anomalies v0.222 RAB39B Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include on panel because of incidental finding issue with Parkinsons. Two papers in which macrocephaly is mentioned: PMID:20159109 dont specify age of onset, and in PMID:29152164 macrocephaly was detected in early childhood. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed publications: 20159109, 29152164
Fetal anomalies v0.222 POLR3A Rebecca Foulger commented on gene: POLR3A: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include due to Wiedemann-Rautenstrauch syndrome (MIM:264090, neonatal onset progeroid syndrome; can present antenatally with IUGR and relative microcephaly).
Fetal anomalies v0.222 ABCD1 Rebecca Foulger edited their review of gene: ABCD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset and progressive- Nothing would be picked up fetally. Action taken: Demoted ABCD1 gene rating from Amber to Red.; Changed rating: RED
Fetal anomalies v0.220 ASCC1 Rebecca Foulger Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Fetal anomalies v0.218 MYT1 Rebecca Foulger Publications for gene: MYT1 were set to 28612832
Fetal anomalies v0.217 TBL1XR1 Rebecca Foulger Publications for gene: TBL1XR1 were set to 28687524; 30365874; 26769062; 25425123; 23160955
Fetal anomalies v0.212 POMK Rebecca Foulger Publications for gene: POMK were set to 23519211; 24925318
Fetal anomalies v0.211 POMK Rebecca Foulger Publications for gene: POMK were set to
Fetal anomalies v0.209 ZNF423 Rebecca Foulger Publications for gene: ZNF423 were set to
Fetal anomalies v0.208 ZNF423 Rebecca Foulger commented on gene: ZNF423: Chaki et al. (2012 PMID:22863007) identified a homozygous 2738C-T variant in the ZNF423 gene (P913L) in two Turkish siblings with with nephronophthisis-14 manifested as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Heterozygous variants were found in two additional unrelated patients with Joubert syndrome.
Fetal anomalies v0.206 ARL13B Rebecca Foulger Publications for gene: ARL13B were set to
Fetal anomalies v0.204 ADAMTS17 Rebecca Foulger Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034
Fetal anomalies v0.202 ADAMTS17 Rebecca Foulger Publications for gene: ADAMTS17 were set to
Fetal anomalies v0.200 COG4 Rebecca Foulger Publications for gene: COG4 were set to
Fetal anomalies v0.199 TTN Rebecca Foulger Added comment: Comment on list classification: Rated as Green following confirmation from Anna de Burca as the following papers demonstrate a fetal relevance:
In PMID:29575618, six of the affecteds were diagnosed prenatally by fetal ultrasound.
In PMID:28040389 a fetal ultrasound reported Clubfoot.
In PMID:29691892 all 30 patients had prenatal or early onset hypotonia and/or congenital contractures. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
Fetal anomalies v0.198 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Review for gene: TTN was set to GREEN
Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca.
Sources: Expert Review
Fetal anomalies v0.198 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Review for gene: TTN was set to GREEN
Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca.
Sources: Expert Review
Fetal anomalies v0.196 SPTBN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
Fetal anomalies v0.195 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD,Mu (Multifactorial) inheritance in OMIM for Obesity, severe (MIM:601665).
Fetal anomalies v0.194 C11orf70 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
Fetal anomalies v0.192 FBXO11 Rebecca Foulger gene: FBXO11 was added
gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 30057029
Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder
Fetal anomalies v0.192 CACNA1E Rebecca Foulger gene: CACNA1E was added
gene: CACNA1E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30849329
Phenotypes for gene: CACNA1E were set to Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias; Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
Fetal anomalies v0.192 TOP3A Rebecca Foulger gene: TOP3A was added
gene: TOP3A was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 30193137
Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder
Fetal anomalies v0.192 SUZ12 Rebecca Foulger gene: SUZ12 was added
gene: SUZ12 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 30019515; 28229514
Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome
Fetal anomalies v0.192 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 29196973; 28636205
Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386
Fetal anomalies v0.192 SIM1 Rebecca Foulger gene: SIM1 was added
gene: SIM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SIM1 was set to
Publications for gene: SIM1 were set to 28472148; 23778136; 23778139
Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features
Fetal anomalies v0.192 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
Fetal anomalies v0.192 DNAH9 Rebecca Foulger gene: DNAH9 was added
gene: DNAH9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
Fetal anomalies v0.192 C11orf70 Rebecca Foulger gene: C11orf70 was added
gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: C11orf70 was set to
Publications for gene: C11orf70 were set to 29727693; 29727692
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.190 VPS53 Rebecca Foulger Publications for gene: VPS53 were set to 24577744; 12920088
Fetal anomalies v0.188 PCGF2 Rebecca Foulger Publications for gene: PCGF2 were set to
Fetal anomalies v0.182 RAC1 Rebecca Foulger Publications for gene: RAC1 were set to
Fetal anomalies v0.181 SCN2A Rebecca Foulger Publications for gene: SCN2A were set to
Fetal anomalies v0.180 HCCS Rebecca Foulger Publications for gene: HCCS were set to
Fetal anomalies v0.179 DDX3X Rebecca Foulger Publications for gene: DDX3X were set to
Fetal anomalies v0.178 ACTA1 Rebecca Foulger Publications for gene: ACTA1 were set to
Fetal anomalies v0.177 GBA Rebecca Foulger Publications for gene: GBA were set to
Fetal anomalies v0.176 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to
Fetal anomalies v0.175 COQ9 Rebecca Foulger Publications for gene: COQ9 were set to
Fetal anomalies v0.174 BCS1L Rebecca Foulger Publications for gene: BCS1L were set to
Fetal anomalies v0.173 PROK2 Rebecca Foulger Publications for gene: PROK2 were set to
Fetal anomalies v0.172 PACS1 Rebecca Foulger Publications for gene: PACS1 were set to
Fetal anomalies v0.171 ROBO1 Rebecca Foulger Publications for gene: ROBO1 were set to 28592524; 28485101
Fetal anomalies v0.170 MECP2 Rebecca Foulger Publications for gene: MECP2 were set to
Fetal anomalies v0.169 KCNQ2 Rebecca Foulger Publications for gene: KCNQ2 were set to
Fetal anomalies v0.168 HYDIN Rebecca Foulger Publications for gene: HYDIN were set to
Fetal anomalies v0.166 AUH Rebecca Foulger edited their review of gene: AUH: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Progressive disorder with late onset (30yrs) in some patients. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 TCN2 Rebecca Foulger edited their review of gene: TCN2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.166 TRAPPC2 Rebecca Foulger edited their review of gene: TRAPPC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Age of onset is 5-10 years. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.164 WNT3 Rebecca Foulger Publications for gene: WNT3 were set to 14872406
Fetal anomalies v0.163 TRIM32 Rebecca Foulger Publications for gene: TRIM32 were set to
Fetal anomalies v0.162 SLX4 Rebecca Foulger Publications for gene: SLX4 were set to
Fetal anomalies v0.161 ZNF711 Rebecca Foulger edited their review of gene: ZNF711: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Onset in childhood, progressive. Action taken: Demoted ZNF711 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 ZFYVE26 Rebecca Foulger edited their review of gene: ZFYVE26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus callosum only. Onset in childhood, progressive. Action taken: Demoted ZFYVE26 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SPEG Rebecca Foulger edited their review of gene: SPEG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Severe phenotype with onset in infancy so assume contractures etc could present prenatally.; Changed rating: GREEN
Fetal anomalies v0.161 SETBP1 Rebecca Foulger edited their review of gene: SETBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.160 WNT3 Rebecca Foulger Publications for gene: WNT3 were set to
Fetal anomalies v0.159 TBX22 Rebecca Foulger Publications for gene: TBX22 were set to
Fetal anomalies v0.153 RNASET2 Rebecca Foulger edited their review of gene: RNASET2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.146 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to X-linked dominant after clinical review so that both X-linked dominant and X-linked recessive inheritance would be picked up.
Fetal anomalies v0.146 IKBKG Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.134 MGAT2 Rebecca Foulger edited their review of gene: MGAT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted MGAT2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 MFSD8 Rebecca Foulger edited their review of gene: MFSD8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Disease is progressive with late infantile onset (from age 1.5 years). Action taken: Demoted MFSD8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 GJC2 Rebecca Foulger edited their review of gene: GJC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Onset of Lymphatic malformation 3 can be at birth (monoallelic mode of inheritance). Action taken: Kept mode of inheritance as 'both monoallelic and biallelic' on advice from Lyn Chitty.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.134 FHL1 Rebecca Foulger edited their review of gene: FHL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Adult onset. Action taken: Demoted FHL1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 DMPK Rebecca Foulger edited their review of gene: DMPK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Note of caution that repeat expansion is clinically-relevant and not detectable on exome. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding.; Changed rating: GREEN
Fetal anomalies v0.134 CYC1 Rebecca Foulger edited their review of gene: CYC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset of episodic lactic acidosis etc is in childhood. Action taken: Demoted CYC1 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CTSD Rebecca Foulger edited their review of gene: CTSD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can have very early onset in infancy (some reported patients died within days of birth).; Changed rating: GREEN
Fetal anomalies v0.134 COMP Rebecca Foulger edited their review of gene: COMP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COMP gene rating from Green to Red. Additional notes from clinical review: Onset is later.; Changed rating: RED
Fetal anomalies v0.134 CLN8 Rebecca Foulger edited their review of gene: CLN8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN8 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLN5 Rebecca Foulger edited their review of gene: CLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN5 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CLN3 Rebecca Foulger edited their review of gene: CLN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Juvenile onset. Action taken: Demoted CLN3 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 CASK Rebecca Foulger edited their review of gene: CASK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural brain abnormalities.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.134 CAD Rebecca Foulger edited their review of gene: CAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset is in infancy and progressive, so wouldn't see pre-natally. Action taken: Demoted CAD gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 C2orf71 Rebecca Foulger edited their review of gene: C2orf71: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Retinitis pigmentosa has adult onset with two patients reported with an earlier onset. Action taken: Demoted C2orf71 (PCARE) gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.134 ALS2 Rebecca Foulger edited their review of gene: ALS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The age of onset is 3-20 years. Action taken: Demoted ALS2 gene rating from Green to Red. ; Changed rating: RED
Fetal anomalies v0.134 ALDH7A1 Rebecca Foulger edited their review of gene: ALDH7A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype has prenatal or neonatal onset and includes in utero convulsions. Treatable.; Changed rating: GREEN
Fetal anomalies v0.132 ASCC1 Julia Baptista gene: ASCC1 was added
gene: ASCC1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Review for gene: ASCC1 was set to GREEN
gene: ASCC1 was marked as current diagnostic
Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.
Sources: Literature
Fetal anomalies v0.128 C4orf26 Rebecca Foulger Publications for gene: C4orf26 were set to
Fetal anomalies v0.126 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
Fetal anomalies v0.126 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
Fetal anomalies v0.123 TALDO1 Rebecca Foulger gene: TALDO1 was added
gene: TALDO1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Fetal hydrops; Transaldolase deficiency, 606003
Fetal anomalies v0.123 SOS2 Rebecca Foulger gene: SOS2 was added
gene: SOS2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS2 were set to Fetal hydrops; Noonan syndrome 9, 616559
Fetal anomalies v0.123 LZTR1 Rebecca Foulger gene: LZTR1 was added
gene: LZTR1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Fetal hydrops; Noonan syndrome 10, 616564
Fetal anomalies v0.123 LIPA Rebecca Foulger gene: LIPA was added
gene: LIPA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 12666227
Phenotypes for gene: LIPA were set to Fetal hydrops; Wolman disease, 278000; Lysosomal Acid Lipase Deficiency
Fetal anomalies v0.123 HBA2 Rebecca Foulger gene: HBA2 was added
gene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Fetal hydrops; Thalassemia, alpha-, 604131
Fetal anomalies v0.123 HBA1 Rebecca Foulger gene: HBA1 was added
gene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Fetal hydrops; Thalassemia, alpha-, 604131
Fetal anomalies v0.123 SGPL1 Rebecca Foulger gene: SGPL1 was added
gene: SGPL1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Fetal hydrops; Nephrotic syndrome type 14, 617575
Fetal anomalies v0.120 UFC1 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'.
Fetal anomalies v0.119 TBL1XR1 Rebecca Foulger Publications for gene: TBL1XR1 were set to
Fetal anomalies v0.118 SAMD9 Rebecca Foulger Added comment: Comment on mode of inheritance: Mode of inheritance missing in DD-G2P at time SAMD9 was added to the panel. Set the MOI to monoallelic to match OMIM inheritance for MIRAGE syndrome (MIM:617053).
Fetal anomalies v0.115 SAMD9 Rebecca Foulger gene: SAMD9 was added
gene: SAMD9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to
Publications for gene: SAMD9 were set to 27182967; 28346228
Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Fetal anomalies v0.115 SLC10A7 Rebecca Foulger gene: SLC10A7 was added
gene: SLC10A7 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715; 29878199
Phenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
Fetal anomalies v0.115 KMT2E Rebecca Foulger gene: KMT2E was added
gene: KMT2E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.115 TRAF7 Rebecca Foulger gene: TRAF7 was added
gene: TRAF7 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569
Phenotypes for gene: TRAF7 were set to Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments
Fetal anomalies v0.115 SLC52A2 Rebecca Foulger gene: SLC52A2 was added
gene: SLC52A2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 24253200; 22740598
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Fetal anomalies v0.115 STAG2 Rebecca Foulger gene: STAG2 was added
gene: STAG2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STAG2 were set to 30158690; 29263825; 28296084
Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies
Fetal anomalies v0.115 UFC1 Rebecca Foulger gene: UFC1 was added
gene: UFC1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: UFC1 was set to
Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly
Fetal anomalies v0.115 UFM1 Rebecca Foulger gene: UFM1 was added
gene: UFM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly,
Fetal anomalies v0.114 AAAS Rebecca Foulger commented on gene: AAAS: AAAS Gene and phenotype discussed at meeting with Lynn Chitty, Richard Scott and Anna De Burca (meeting at Great Ormond Street, February 27th 2019). Although microcephaly may or may not show in a prenatal setting, the advice is to leave AAAS on the fetal panel as Green.
Fetal anomalies v0.110 CLN6 Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
Fetal anomalies v0.110 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.106 TWIST2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'both monoallelic and biallelic' to 'monoallelic'. Inheritance is recessive for Focal facial dermal dysplasia 3, Setleis type (MIM:227260) which Deirdre Cilliers notes would not present pre-natally. Inheritance is autosomal dominant for Ablepharon-macrostomia syndrome (MIM:200110) and Barber-Say syndrome (MIM:209885).
Fetal anomalies v0.105 TWIST2 Rebecca Foulger Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME to ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885
Fetal anomalies v0.104 TWIST2 Rebecca Foulger Publications for gene: TWIST2 were set to
Fetal anomalies v0.103 TWIST2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following comment from Deirdre Cilliers (OUH). Originally rated Amber based on multiple ratings for different disorders, but as Deirdre notes: Setleis would not present prenatally. Sufficient cases (>3) of Barber-Say and ablepharon-macrostomia syndrome to support causation.
Fetal anomalies v0.102 TWIST2 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP to 'Other' based on comment by Deirdre Cilliers: gain of function for Barber-Say and ablepharon-macrostomia syndrome, which are relevant to this fetal panel. As noted in original upload, DD-G2P record a 'loss of function' mechanism for SETLEIS SYNDROME, but this wouldn't present prenatally (see comment from Deirdre Cilliers).
Fetal anomalies v0.101 TWIST2 Rebecca Foulger commented on gene: TWIST2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [TWIST2 should be on the Fetal anomalies panel]. Very particular mutations which improve the chance of variant interpretation - gain of function for Barber-Say and ablepharon-macrostomia syndrome. May present with ambiguous genitalia (microarray may identify a male karyotype when thought that female genitalia were seen on scan) or talipes which may be identified, but other features not clear on scan (loss of lateral lower lip). Setleis type of focal facial dermal dysplasia would not present prenatally, although there is a small chance of an incidental finding if this gene is on the panel.
Fetal anomalies v0.99 TBC1D20 Rebecca Foulger Publications for gene: TBC1D20 were set to
Fetal anomalies v0.97 SUFU Rebecca Foulger Publications for gene: SUFU were set to
Fetal anomalies v0.96 SUFU Rebecca Foulger commented on gene: SUFU: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [SUFU should be on the Fetal anomalies panel]. Joubert syndrome would present prenatally with the cerebellar vermis hypoplasia and/or polydactyly. If the test incidentally identifies the predisposition to cancer, screening would be offered early in childhood in any case, although this would be difficult news to hear in the prenatal setting.
Fetal anomalies v0.95 MITF Rebecca Foulger Publications for gene: MITF were set to
Fetal anomalies v0.91 MAGEL2 Rebecca Foulger Publications for gene: MAGEL2 were set to
Fetal anomalies v0.88 MAFB Rebecca Foulger commented on gene: MAFB: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [Would not include MAFB on the Fetal anomalies panel]: Not usually manifesting in the prenatal setting.
Fetal anomalies v0.88 KMT2C Rebecca Foulger Publications for gene: KMT2C were set to 29276005
Fetal anomalies v0.85 EMG1 Rebecca Foulger Publications for gene: EMG1 were set to
Fetal anomalies v0.76 IFIH1 Rebecca Foulger Publications for gene: IFIH1 were set to
Fetal anomalies v0.74 ARCN1 Rebecca Foulger Publications for gene: ARCN1 were set to
Fetal anomalies v0.72 TPM2 Rebecca Foulger Publications for gene: TPM2 were set to
Fetal anomalies v0.70 CHRNA1 Rebecca Foulger Publications for gene: CHRNA1 were set to
Fetal anomalies v0.68 CFC1 Rebecca Foulger Publications for gene: CFC1 were set to
Fetal anomalies v0.52 ATAD3A Rebecca Foulger Publications for gene: ATAD3A were set to
Fetal anomalies v0.46 BGN Rebecca Foulger Publications for gene: BGN were set to
Fetal anomalies v0.45 ITPR1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following email correspondance from Anna de Burca who notes that SCA15 is an adult onset condition and that ITPR1 is also associated with Gillespie syndrome which might possibly present prenatally with cerebellar hypoplasia but on balance it would be better to exclude. Therefore although there is sufficient evidence (>3 cases) for association with Gillespie syndrome, the phenotype is not appropriate for this Fetal panel.
Fetal anomalies v0.41 PIEZO1 Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996
Fetal anomalies v0.27 RBPJ Rebecca Foulger Publications for gene: RBPJ were set to
Fetal anomalies v0.9 YWHAG Rebecca Foulger commented on gene: YWHAG: DDG2P rating in original PAGE list: Probable for Early-Onset Epilepsy
Fetal anomalies v0.9 UBTF Rebecca Foulger commented on gene: UBTF: DDG2P rating in original PAGE list: Probable for Childhood-Onset Neurodegeneration
Fetal anomalies v0.9 SLC25A4 Rebecca Foulger commented on gene: SLC25A4: DDG2P rating in original PAGE list: Probable for Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Fetal anomalies v0.9 SETD5 Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SETD2 Rebecca Foulger reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SETD1A Rebecca Foulger reviewed gene: SETD1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SETBP1 Rebecca Foulger commented on gene: SETBP1: DDG2P rating in original PAGE list: Confirmed for SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME and Confirmed for DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY.
Fetal anomalies v0.9 SET Rebecca Foulger reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RNASET2 Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PDE10A Rebecca Foulger commented on gene: PDE10A: DDG2P rating in original PAGE list: Probable for Childhood-Onset Chorea with Bilateral Striatal Lesions
Fetal anomalies v0.9 MAF Rebecca Foulger commented on gene: MAF: DDG2P rating in original PAGE list: Confirmed for CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, Confirmed for CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED and Confirmed for CATARACT CONGENITAL CERULEAN TYPE 4.
Fetal anomalies v0.9 LIAS Rebecca Foulger commented on gene: LIAS: DDG2P rating in original PAGE list: Probable for Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Fetal anomalies v0.9 KLHL7 Rebecca Foulger commented on gene: KLHL7: DDG2P rating in original PAGE list: Probable for Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Fetal anomalies v0.9 HNF4A Rebecca Foulger commented on gene: HNF4A: DDG2P rating in original PAGE list: Confirmed for HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 and Confirmed for ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY.
Fetal anomalies v0.9 C1QBP Rebecca Foulger commented on gene: C1QBP: DDG2P rating in original PAGE list: Probable for Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Fetal anomalies v0.7 CLN6 Rebecca Foulger commented on gene: CLN6: Rating in original PAGE file: 'both DD and IF' for both CEROID LIPOFUSCINOSIS, NEURONAL, 6 and CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
Fetal anomalies v0.7 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.6 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'Both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.3 SETBP1 Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 CHM Rebecca Foulger gene: CHM was added
gene: CHM was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: CHM was set to
Fetal anomalies v0.1 NLGN3 Rebecca Foulger gene: NLGN3 was added
gene: NLGN3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: NLGN3 was set to
Fetal anomalies v0.1 PNPLA2 Rebecca Foulger gene: PNPLA2 was added
gene: PNPLA2 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: PNPLA2 was set to
Fetal anomalies v0.1 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: GJB3 was set to
Fetal anomalies v0.1 ROBO3 Rebecca Foulger gene: ROBO3 was added
gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: ROBO3 was set to
Fetal anomalies v0.1 NRXN1 Rebecca Foulger gene: NRXN1 was added
gene: NRXN1 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: NRXN1 was set to
Fetal anomalies v0.1 MYO15A Rebecca Foulger gene: MYO15A was added
gene: MYO15A was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: MYO15A was set to
Fetal anomalies v0.1 CDH23 Rebecca Foulger gene: CDH23 was added
gene: CDH23 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: CDH23 was set to
Fetal anomalies v0.1 DMD Rebecca Foulger gene: DMD was added
gene: DMD was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: DMD was set to
Fetal anomalies v0.1 ZSWIM6 Rebecca Foulger gene: ZSWIM6 was added
gene: ZSWIM6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS
Fetal anomalies v0.1 ZNF750 Rebecca Foulger gene: ZNF750 was added
gene: ZNF750 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
Fetal anomalies v0.1 ZNF711 Rebecca Foulger gene: ZNF711 was added
gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED
Fetal anomalies v0.1 ZNF462 Rebecca Foulger gene: ZNF462 was added
gene: ZNF462 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Fetal anomalies v0.1 ZNF423 Rebecca Foulger gene: ZNF423 was added
gene: ZNF423 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844
Fetal anomalies v0.1 ZMYND11 Rebecca Foulger gene: ZMYND11 was added
gene: ZMYND11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ZMYND10 Rebecca Foulger gene: ZMYND10 was added
gene: ZMYND10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22
Fetal anomalies v0.1 ZMPSTE24 Rebecca Foulger gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
Fetal anomalies v0.1 ZIC3 Rebecca Foulger gene: ZIC3 was added
gene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
Fetal anomalies v0.1 ZIC2 Rebecca Foulger gene: ZIC2 was added
gene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 ZIC1 Rebecca Foulger gene: ZIC1 was added
gene: ZIC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6
Fetal anomalies v0.1 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15
Fetal anomalies v0.1 ZFP57 Rebecca Foulger gene: ZFP57 was added
gene: ZFP57 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL
Fetal anomalies v0.1 ZEB2 Rebecca Foulger gene: ZEB2 was added
gene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME
Fetal anomalies v0.1 ZDHHC9 Rebecca Foulger gene: ZDHHC9 was added
gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
Fetal anomalies v0.1 ZC4H2 Rebecca Foulger gene: ZC4H2 was added
gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ZBTB20 Rebecca Foulger gene: ZBTB20 was added
gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME
Fetal anomalies v0.1 ZBTB18 Rebecca Foulger gene: ZBTB18 was added
gene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome
Fetal anomalies v0.1 YY1 Rebecca Foulger gene: YY1 was added
gene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 YWHAG Rebecca Foulger gene: YWHAG was added
gene: YWHAG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy
Fetal anomalies v0.1 YAP1 Rebecca Foulger gene: YAP1 was added
gene: YAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Fetal anomalies v0.1 XYLT2 Rebecca Foulger gene: XYLT2 was added
gene: XYLT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME
Fetal anomalies v0.1 XYLT1 Rebecca Foulger gene: XYLT1 was added
gene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2
Fetal anomalies v0.1 XRCC4 Rebecca Foulger gene: XRCC4 was added
gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM
Fetal anomalies v0.1 XPC Rebecca Foulger gene: XPC was added
gene: XPC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C
Fetal anomalies v0.1 XPA Rebecca Foulger gene: XPA was added
gene: XPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A
Fetal anomalies v0.1 WWOX Rebecca Foulger gene: WWOX was added
gene: WWOX was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.1 WT1 Rebecca Foulger gene: WT1 was added
gene: WT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME
Fetal anomalies v0.1 WRAP53 Rebecca Foulger gene: WRAP53 was added
gene: WRAP53 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.1 WNT7A Rebecca Foulger gene: WNT7A was added
gene: WNT7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME
Fetal anomalies v0.1 WNT5A Rebecca Foulger gene: WNT5A was added
gene: WNT5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT
Fetal anomalies v0.1 WNT4 Rebecca Foulger gene: WNT4 was added
gene: WNT4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT4 were set to SERKAL SYNDROME
Fetal anomalies v0.1 WNT3 Rebecca Foulger gene: WNT3 was added
gene: WNT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME
Fetal anomalies v0.1 WNT10B Rebecca Foulger gene: WNT10B was added
gene: WNT10B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to SPLIT-HAND/FOOT MALFORMATION TYPE 6
Fetal anomalies v0.1 WNT1 Rebecca Foulger gene: WNT1 was added
gene: WNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to OSTEOGENESIS IMPERFECTA
Fetal anomalies v0.1 WDR73 Rebecca Foulger gene: WDR73 was added
gene: WDR73 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.1 WDR62 Rebecca Foulger gene: WDR62 was added
gene: WDR62 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Fetal anomalies v0.1 WDR60 Rebecca Foulger gene: WDR60 was added
gene: WDR60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to JEUNE SYNDROMES
Fetal anomalies v0.1 WDR45 Rebecca Foulger gene: WDR45 was added
gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Fetal anomalies v0.1 WDR35 Rebecca Foulger gene: WDR35 was added
gene: WDR35 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2
Fetal anomalies v0.1 WDR34 Rebecca Foulger gene: WDR34 was added
gene: WDR34 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III
Fetal anomalies v0.1 WDR26 Rebecca Foulger gene: WDR26 was added
gene: WDR26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Fetal anomalies v0.1 WDR19 Rebecca Foulger gene: WDR19 was added
gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4
Fetal anomalies v0.1 WDR11 Rebecca Foulger gene: WDR11 was added
gene: WDR11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME
Fetal anomalies v0.1 WDPCP Rebecca Foulger gene: WDPCP was added
gene: WDPCP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15
Fetal anomalies v0.1 WASHC5 Rebecca Foulger gene: WASHC5 was added
gene: WASHC5 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant 603563; Ritscher-Schinzel syndrome 1 220210
Fetal anomalies v0.1 WAC Rebecca Foulger gene: WAC was added
gene: WAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 VSX2 Rebecca Foulger gene: VSX2 was added
gene: VSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES
Fetal anomalies v0.1 VRK1 Rebecca Foulger gene: VRK1 was added
gene: VRK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.1 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 24577744; 12920088
Phenotypes for gene: VPS53 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851
Fetal anomalies v0.1 VPS33B Rebecca Foulger gene: VPS33B was added
gene: VPS33B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Fetal anomalies v0.1 VPS13B Rebecca Foulger gene: VPS13B was added
gene: VPS13B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to COHEN SYNDROME
Fetal anomalies v0.1 VLDLR Rebecca Foulger gene: VLDLR was added
gene: VLDLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
Fetal anomalies v0.1 VIPAS39 Rebecca Foulger gene: VIPAS39 was added
gene: VIPAS39 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Fetal anomalies v0.1 VDR Rebecca Foulger gene: VDR was added
gene: VDR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A
Fetal anomalies v0.1 UVSSA Rebecca Foulger gene: UVSSA was added
gene: UVSSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME
Fetal anomalies v0.1 USP9X Rebecca Foulger gene: USP9X was added
gene: USP9X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99
Fetal anomalies v0.1 USP27X Rebecca Foulger gene: USP27X was added
gene: USP27X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 USP18 Rebecca Foulger gene: USP18 was added
gene: USP18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USP18 were set to Severe pseudo-TORCH syndrome
Fetal anomalies v0.1 USB1 Rebecca Foulger gene: USB1 was added
gene: USB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia
Fetal anomalies v0.1 UROS Rebecca Foulger gene: UROS was added
gene: UROS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA
Fetal anomalies v0.1 UROC1 Rebecca Foulger gene: UROC1 was added
gene: UROC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY
Fetal anomalies v0.1 UQCRQ Rebecca Foulger gene: UQCRQ was added
gene: UQCRQ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED
Fetal anomalies v0.1 UQCRB Rebecca Foulger gene: UQCRB was added
gene: UQCRB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED
Fetal anomalies v0.1 UPF3B Rebecca Foulger gene: UPF3B was added
gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
Fetal anomalies v0.1 UNC80 Rebecca Foulger gene: UNC80 was added
gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Fetal anomalies v0.1 UMPS Rebecca Foulger gene: UMPS was added
gene: UMPS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1
Fetal anomalies v0.1 UGT1A1 Rebecca Foulger gene: UGT1A1 was added
gene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I
Fetal anomalies v0.1 UBTF Rebecca Foulger gene: UBTF was added
gene: UBTF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration
Fetal anomalies v0.1 UBR1 Rebecca Foulger gene: UBR1 was added
gene: UBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME
Fetal anomalies v0.1 UBE3B Rebecca Foulger gene: UBE3B was added
gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION
Fetal anomalies v0.1 UBE3A Rebecca Foulger gene: UBE3A was added
gene: UBE3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME
Fetal anomalies v0.1 UBE2T Rebecca Foulger gene: UBE2T was added
gene: UBE2T was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T
Fetal anomalies v0.1 UBE2A Rebecca Foulger gene: UBE2A was added
gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION
Fetal anomalies v0.1 UBA5 Rebecca Foulger gene: UBA5 was added
gene: UBA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy
Fetal anomalies v0.1 UBA1 Rebecca Foulger gene: UBA1 was added
gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830
Fetal anomalies v0.1 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3
Fetal anomalies v0.1 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1
Fetal anomalies v0.1 TXNL4A Rebecca Foulger gene: TXNL4A was added
gene: TXNL4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME
Fetal anomalies v0.1 TWIST2 Rebecca Foulger Added phenotypes SETLEIS SYNDROME for gene: TWIST2
Fetal anomalies v0.1 TWIST2 Rebecca Foulger gene: TWIST2 was added
gene: TWIST2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME
Fetal anomalies v0.1 TWIST1 Rebecca Foulger gene: TWIST1 was added
gene: TWIST1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME
Fetal anomalies v0.1 TUSC3 Rebecca Foulger gene: TUSC3 was added
gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7
Fetal anomalies v0.1 TUFM Rebecca Foulger gene: TUFM was added
gene: TUFM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
Fetal anomalies v0.1 TUBGCP6 Rebecca Foulger gene: TUBGCP6 was added
gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION
Fetal anomalies v0.1 TUBGCP4 Rebecca Foulger gene: TUBGCP4 was added
gene: TUBGCP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Fetal anomalies v0.1 TUBG1 Rebecca Foulger gene: TUBG1 was added
gene: TUBG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly
Fetal anomalies v0.1 TUBB4A Rebecca Foulger gene: TUBB4A was added
gene: TUBB4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Fetal anomalies v0.1 TUBB3 Rebecca Foulger gene: TUBB3 was added
gene: TUBB3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Fetal anomalies v0.1 TUBB2B Rebecca Foulger gene: TUBB2B was added
gene: TUBB2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC
Fetal anomalies v0.1 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
Fetal anomalies v0.1 TUBB Rebecca Foulger gene: TUBB was added
gene: TUBB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
Fetal anomalies v0.1 TUBA8 Rebecca Foulger gene: TUBA8 was added
gene: TUBA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
Fetal anomalies v0.1 TUBA1A Rebecca Foulger gene: TUBA1A was added
gene: TUBA1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 TTI2 Rebecca Foulger gene: TTI2 was added
gene: TTI2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 TTC8 Rebecca Foulger gene: TTC8 was added
gene: TTC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51
Fetal anomalies v0.1 TTC7A Rebecca Foulger gene: TTC7A was added
gene: TTC7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE
Fetal anomalies v0.1 TTC37 Rebecca Foulger gene: TTC37 was added
gene: TTC37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME
Fetal anomalies v0.1 TTC25 Rebecca Foulger gene: TTC25 was added
gene: TTC25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Fetal anomalies v0.1 TTC21B Rebecca Foulger gene: TTC21B was added
gene: TTC21B was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Fetal anomalies v0.1 TTC19 Rebecca Foulger gene: TTC19 was added
gene: TTC19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY
Fetal anomalies v0.1 TSPAN7 Rebecca Foulger gene: TSPAN7 was added
gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58
Fetal anomalies v0.1 TSHR Rebecca Foulger gene: TSHR was added
gene: TSHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
Fetal anomalies v0.1 TSHB Rebecca Foulger gene: TSHB was added
gene: TSHB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Fetal anomalies v0.1 TSEN54 Rebecca Foulger gene: TSEN54 was added
gene: TSEN54 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN34 Rebecca Foulger gene: TSEN34 was added
gene: TSEN34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN2 Rebecca Foulger gene: TSEN2 was added
gene: TSEN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN15 Rebecca Foulger gene: TSEN15 was added
gene: TSEN15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly
Fetal anomalies v0.1 TSC2 Rebecca Foulger gene: TSC2 was added
gene: TSC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to LYMPHANGIOLEIOMYOMATOSIS
Fetal anomalies v0.1 TSC1 Rebecca Foulger gene: TSC1 was added
gene: TSC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1
Fetal anomalies v0.1 TRPV4 Rebecca Foulger gene: TRPV4 was added
gene: TRPV4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Fetal anomalies v0.1 TRPV3 Rebecca Foulger gene: TRPV3 was added
gene: TRPV3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME
Fetal anomalies v0.1 TRPS1 Rebecca Foulger gene: TRPS1 was added
gene: TRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
Fetal anomalies v0.1 TRPM1 Rebecca Foulger gene: TRPM1 was added
gene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Fetal anomalies v0.1 TRMT10C Rebecca Foulger gene: TRMT10C was added
gene: TRMT10C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Fetal anomalies v0.1 TRIP4 Rebecca Foulger gene: TRIP4 was added
gene: TRIP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Fetal anomalies v0.1 TRIP13 Rebecca Foulger gene: TRIP13 was added
gene: TRIP13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour
Fetal anomalies v0.1 TRIP12 Rebecca Foulger gene: TRIP12 was added
gene: TRIP12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder
Fetal anomalies v0.1 TRIP11 Rebecca Foulger gene: TRIP11 was added
gene: TRIP11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A
Fetal anomalies v0.1 TRIO Rebecca Foulger gene: TRIO was added
gene: TRIO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 TRIM37 Rebecca Foulger gene: TRIM37 was added
gene: TRIM37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to MULIBREY NANISM
Fetal anomalies v0.1 TRIM32 Rebecca Foulger gene: TRIM32 was added
gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11
Fetal anomalies v0.1 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Fetal anomalies v0.1 TRAPPC9 Rebecca Foulger gene: TRAPPC9 was added
gene: TRAPPC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
Fetal anomalies v0.1 TRAPPC2 Rebecca Foulger gene: TRAPPC2 was added
gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Fetal anomalies v0.1 TRAPPC12 Rebecca Foulger gene: TRAPPC12 was added
gene: TRAPPC12 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction
Fetal anomalies v0.1 TRAPPC11 Rebecca Foulger gene: TRAPPC11 was added
gene: TRAPPC11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Fetal anomalies v0.1 TRAIP Rebecca Foulger gene: TRAIP was added
gene: TRAIP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM
Fetal anomalies v0.1 TPP1 Rebecca Foulger gene: TPP1 was added
gene: TPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
Fetal anomalies v0.1 TPM3 Rebecca Foulger gene: TPM3 was added
gene: TPM3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Congenital fiber-type disproportion myopathy 255310
Fetal anomalies v0.1 TPM2 Rebecca Foulger gene: TPM2 was added
gene: TPM2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1
Fetal anomalies v0.1 TP63 Rebecca Foulger gene: TP63 was added
gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
Fetal anomalies v0.1 TOE1 Rebecca Foulger gene: TOE1 was added
gene: TOE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA
Fetal anomalies v0.1 TNXB Rebecca Foulger gene: TNXB was added
gene: TNXB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNXB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency 606408
Fetal anomalies v0.1 TNNT1 Rebecca Foulger gene: TNNT1 was added
gene: TNNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type 605355
Fetal anomalies v0.1 TNNI2 Rebecca Foulger gene: TNNI2 was added
gene: TNNI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Fetal anomalies v0.1 TNFRSF13B Rebecca Foulger gene: TNFRSF13B was added
gene: TNFRSF13B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2
Fetal anomalies v0.1 TNFRSF11B Rebecca Foulger gene: TNFRSF11B was added
gene: TNFRSF11B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease 239000
Fetal anomalies v0.1 TMTC3 Rebecca Foulger gene: TMTC3 was added
gene: TMTC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly
Fetal anomalies v0.1 TMPRSS6 Rebecca Foulger gene: TMPRSS6 was added
gene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Fetal anomalies v0.1 TMEM70 Rebecca Foulger gene: TMEM70 was added
gene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Fetal anomalies v0.1 TMEM67 Rebecca Foulger gene: TMEM67 was added
gene: TMEM67 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH SYNDROM
Fetal anomalies v0.1 TMEM260 Rebecca Foulger gene: TMEM260 was added
gene: TMEM260 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome
Fetal anomalies v0.1 TMEM237 Rebecca Foulger gene: TMEM237 was added
gene: TMEM237 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14
Fetal anomalies v0.1 TMEM231 Rebecca Foulger gene: TMEM231 was added
gene: TMEM231 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 614970
Fetal anomalies v0.1 TMEM216 Rebecca Foulger gene: TMEM216 was added
gene: TMEM216 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2
Fetal anomalies v0.1 TMEM165 Rebecca Foulger gene: TMEM165 was added
gene: TMEM165 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Fetal anomalies v0.1 TMEM138 Rebecca Foulger gene: TMEM138 was added
gene: TMEM138 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 614465
Fetal anomalies v0.1 TMEM126B Rebecca Foulger gene: TMEM126B was added
gene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency
Fetal anomalies v0.1 TMCO1 Rebecca Foulger gene: TMCO1 was added
gene: TMCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 TKT Rebecca Foulger gene: TKT was added
gene: TKT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects
Fetal anomalies v0.1 TK2 Rebecca Foulger gene: TK2 was added
gene: TK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
Fetal anomalies v0.1 TINF2 Rebecca Foulger gene: TINF2 was added
gene: TINF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Fetal anomalies v0.1 TIMM8A Rebecca Foulger gene: TIMM8A was added
gene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME
Fetal anomalies v0.1 THRA Rebecca Foulger gene: THRA was added
gene: THRA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Fetal anomalies v0.1 THOC6 Rebecca Foulger gene: THOC6 was added
gene: THOC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome
Fetal anomalies v0.1 THOC2 Rebecca Foulger gene: THOC2 was added
gene: THOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12
Fetal anomalies v0.1 THAP1 Rebecca Foulger gene: THAP1 was added
gene: THAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION
Fetal anomalies v0.1 TH Rebecca Foulger gene: TH was added
gene: TH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA
Fetal anomalies v0.1 TGM1 Rebecca Foulger gene: TGM1 was added
gene: TGM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 242300
Fetal anomalies v0.1 TGIF1 Rebecca Foulger gene: TGIF1 was added
gene: TGIF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 TGFBR2 Rebecca Foulger gene: TGFBR2 was added
gene: TGFBR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger gene: TGFBR1 was added
gene: TGFBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A
Fetal anomalies v0.1 TGFB3 Rebecca Foulger gene: TGFB3 was added
gene: TGFB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 TGFB2 Rebecca Foulger gene: TGFB2 was added
gene: TGFB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4
Fetal anomalies v0.1 TGFB1 Rebecca Foulger gene: TGFB1 was added
gene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE
Fetal anomalies v0.1 TGDS Rebecca Foulger gene: TGDS was added
gene: TGDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME
Fetal anomalies v0.1 TFAP2B Rebecca Foulger gene: TFAP2B was added
gene: TFAP2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2B were set to CHAR SYNDROME
Fetal anomalies v0.1 TFAP2A Rebecca Foulger gene: TFAP2A was added
gene: TFAP2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME
Fetal anomalies v0.1 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4
Fetal anomalies v0.1 TELO2 Rebecca Foulger gene: TELO2 was added
gene: TELO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder
Fetal anomalies v0.1 TEK Rebecca Foulger gene: TEK was added
gene: TEK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
Fetal anomalies v0.1 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS
Fetal anomalies v0.1 TCTN3 Rebecca Foulger gene: TCTN3 was added
gene: TCTN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME
Fetal anomalies v0.1 TCTN2 Rebecca Foulger gene: TCTN2 was added
gene: TCTN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.1 TCTN1 Rebecca Foulger gene: TCTN1 was added
gene: TCTN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.1 TCOF1 Rebecca Foulger gene: TCOF1 was added
gene: TCOF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1
Fetal anomalies v0.1 TCN2 Rebecca Foulger gene: TCN2 was added
gene: TCN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency
Fetal anomalies v0.1 TCIRG1 Rebecca Foulger gene: TCIRG1 was added
gene: TCIRG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant 259700
Fetal anomalies v0.1 TCF4 Rebecca Foulger gene: TCF4 was added
gene: TCF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME
Fetal anomalies v0.1 TCF20 Rebecca Foulger gene: TCF20 was added
gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF20 were set to TCF20 syndrome
Fetal anomalies v0.1 TCF12 Rebecca Foulger gene: TCF12 was added
gene: TCF12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS
Fetal anomalies v0.1 TBXAS1 Rebecca Foulger gene: TBXAS1 was added
gene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME
Fetal anomalies v0.1 TBX6 Rebecca Foulger gene: TBX6 was added
gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600
Fetal anomalies v0.1 TBX5 Rebecca Foulger gene: TBX5 was added
gene: TBX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME
Fetal anomalies v0.1 TBX4 Rebecca Foulger gene: TBX4 was added
gene: TBX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME
Fetal anomalies v0.1 TBX3 Rebecca Foulger gene: TBX3 was added
gene: TBX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME
Fetal anomalies v0.1 TBX22 Rebecca Foulger gene: TBX22 was added
gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED
Fetal anomalies v0.1 TBX20 Rebecca Foulger gene: TBX20 was added
gene: TBX20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4
Fetal anomalies v0.1 TBX18 Rebecca Foulger gene: TBX18 was added
gene: TBX18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
Fetal anomalies v0.1 TBX15 Rebecca Foulger gene: TBX15 was added
gene: TBX15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome
Fetal anomalies v0.1 TBX1 Rebecca Foulger gene: TBX1 was added
gene: TBX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME
Fetal anomalies v0.1 TBR1 Rebecca Foulger gene: TBR1 was added
gene: TBR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBR1 were set to AUTISM
Fetal anomalies v0.1 TBL1XR1 Rebecca Foulger gene: TBL1XR1 was added
gene: TBL1XR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBL1XR1 were set to AUTISM
Fetal anomalies v0.1 TBCK Rebecca Foulger gene: TBCK was added
gene: TBCK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy
Fetal anomalies v0.1 TBCE Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE
Fetal anomalies v0.1 TBCE Rebecca Foulger gene: TBCE was added
gene: TBCE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1
Fetal anomalies v0.1 TBCD Rebecca Foulger gene: TBCD was added
gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy
Fetal anomalies v0.1 TBC1D24 Rebecca Foulger gene: TBC1D24 was added
gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS
Fetal anomalies v0.1 TBC1D23 Rebecca Foulger gene: TBC1D23 was added
gene: TBC1D23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia
Fetal anomalies v0.1 TBC1D20 Rebecca Foulger gene: TBC1D20 was added
gene: TBC1D20 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4
Fetal anomalies v0.1 TAZ Rebecca Foulger gene: TAZ was added
gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to BARTH SYNDROME
Fetal anomalies v0.1 TAT Rebecca Foulger gene: TAT was added
gene: TAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2
Fetal anomalies v0.1 TAPT1 Rebecca Foulger gene: TAPT1 was added
gene: TAPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.1 TANGO2 Rebecca Foulger gene: TANGO2 was added
gene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Fetal anomalies v0.1 TAF13 Rebecca Foulger gene: TAF13 was added
gene: TAF13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly
Fetal anomalies v0.1 TAF1 Rebecca Foulger gene: TAF1 was added
gene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Fetal anomalies v0.1 TACR3 Rebecca Foulger gene: TACR3 was added
gene: TACR3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 TACO1 Rebecca Foulger gene: TACO1 was added
gene: TACO1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 TAC3 Rebecca Foulger gene: TAC3 was added
gene: TAC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 TAB2 Rebecca Foulger gene: TAB2 was added
gene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2
Fetal anomalies v0.1 SZT2 Rebecca Foulger gene: SZT2 was added
gene: SZT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
Fetal anomalies v0.1 SYP Rebecca Foulger gene: SYP was added
gene: SYP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED
Fetal anomalies v0.1 SYNGAP1 Rebecca Foulger gene: SYNGAP1 was added
gene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 SYNE1 Rebecca Foulger gene: SYNE1 was added
gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 SYN1 Rebecca Foulger gene: SYN1 was added
gene: SYN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Fetal anomalies v0.1 SURF1 Rebecca Foulger gene: SURF1 was added
gene: SURF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to LEIGH SYNDROME
Fetal anomalies v0.1 SUMF1 Rebecca Foulger gene: SUMF1 was added
gene: SUMF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Fetal anomalies v0.1 SUFU Rebecca Foulger gene: SUFU was added
gene: SUFU was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects
Fetal anomalies v0.1 SUCLG1 Rebecca Foulger gene: SUCLG1 was added
gene: SUCLG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS
Fetal anomalies v0.1 STXBP1 Rebecca Foulger gene: STXBP1 was added
gene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER
Fetal anomalies v0.1 STX1B Rebecca Foulger gene: STX1B was added
gene: STX1B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Fetal anomalies v0.1 STS Rebecca Foulger gene: STS was added
gene: STS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED
Fetal anomalies v0.1 STRA6 Rebecca Foulger gene: STRA6 was added
gene: STRA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9
Fetal anomalies v0.1 STIL Rebecca Foulger gene: STIL was added
gene: STIL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7
Fetal anomalies v0.1 STAT5B Rebecca Foulger gene: STAT5B was added
gene: STAT5B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
Fetal anomalies v0.1 STAT1 Rebecca Foulger gene: STAT1 was added
gene: STAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE
Fetal anomalies v0.1 STAR Rebecca Foulger gene: STAR was added
gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
Fetal anomalies v0.1 STAMBP Rebecca Foulger gene: STAMBP was added
gene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
Fetal anomalies v0.1 STAG1 Rebecca Foulger gene: STAG1 was added
gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability
Fetal anomalies v0.1 ST3GAL5 Rebecca Foulger gene: ST3GAL5 was added
gene: ST3GAL5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME
Fetal anomalies v0.1 ST3GAL3 Rebecca Foulger gene: ST3GAL3 was added
gene: ST3GAL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.1 ST14 Rebecca Foulger gene: ST14 was added
gene: ST14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS
Fetal anomalies v0.1 SRY Rebecca Foulger gene: SRY was added
gene: SRY was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1
Fetal anomalies v0.1 SRP54 Rebecca Foulger gene: SRP54 was added
gene: SRP54 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
Fetal anomalies v0.1 SRD5A3 Rebecca Foulger gene: SRD5A3 was added
gene: SRD5A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 SRD5A2 Rebecca Foulger gene: SRD5A2 was added
gene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600
Fetal anomalies v0.1 SRCAP Rebecca Foulger gene: SRCAP was added
gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME
Fetal anomalies v0.1 SPTLC2 Rebecca Foulger gene: SPTLC2 was added
gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
Fetal anomalies v0.1 SPTAN1 Rebecca Foulger gene: SPTAN1 was added
gene: SPTAN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5
Fetal anomalies v0.1 SPRY4 Rebecca Foulger gene: SPRY4 was added
gene: SPRY4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: SPRY4 was set to Unknown
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
Fetal anomalies v0.1 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME
Fetal anomalies v0.1 SPR Rebecca Foulger gene: SPR was added
gene: SPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Fetal anomalies v0.1 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11
Fetal anomalies v0.1 SPEG Rebecca Foulger gene: SPEG was added
gene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Fetal anomalies v0.1 SPECC1L Rebecca Foulger gene: SPECC1L was added
gene: SPECC1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1
Fetal anomalies v0.1 SPATA5 Rebecca Foulger gene: SPATA5 was added
gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 SPARC Rebecca Foulger gene: SPARC was added
gene: SPARC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII
Fetal anomalies v0.1 SPAG1 Rebecca Foulger gene: SPAG1 was added
gene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
Fetal anomalies v0.1 SP110 Rebecca Foulger gene: SP110 was added
gene: SP110 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550
Fetal anomalies v0.1 SOX9 Rebecca Foulger gene: SOX9 was added
gene: SOX9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE
Fetal anomalies v0.1 SOX5 Rebecca Foulger gene: SOX5 was added
gene: SOX5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SOX3 Rebecca Foulger gene: SOX3 was added
gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SOX3 were set to SEX REVERSAL TYPE 3
Fetal anomalies v0.1 SOX2 Rebecca Foulger gene: SOX2 was added
gene: SOX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to AEG SYNDROME
Fetal anomalies v0.1 SOX17 Rebecca Foulger gene: SOX17 was added
gene: SOX17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3
Fetal anomalies v0.1 SOX11 Rebecca Foulger gene: SOX11 was added
gene: SOX11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
Fetal anomalies v0.1 SOX10 Rebecca Foulger gene: SOX10 was added
gene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
Fetal anomalies v0.1 SOST Rebecca Foulger gene: SOST was added
gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to 269500; SOST-Related Sclerosing Bone Dysplasias 122860
Fetal anomalies v0.1 SOS1 Rebecca Foulger gene: SOS1 was added
gene: SOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4
Fetal anomalies v0.1 SON Rebecca Foulger gene: SON was added
gene: SON was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive
Fetal anomalies v0.1 SNX14 Rebecca Foulger gene: SNX14 was added
gene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Fetal anomalies v0.1 SNRPE Rebecca Foulger gene: SNRPE was added
gene: SNRPE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX
Fetal anomalies v0.1 SNRPB Rebecca Foulger gene: SNRPB was added
gene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME
Fetal anomalies v0.1 SNORD118 Rebecca Foulger gene: SNORD118 was added
gene: SNORD118 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts
Fetal anomalies v0.1 SNAP29 Rebecca Foulger gene: SNAP29 was added
gene: SNAP29 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME
Fetal anomalies v0.1 SNAP25 Rebecca Foulger gene: SNAP25 was added
gene: SNAP25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 SMS Rebecca Foulger gene: SMS was added
gene: SMS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME
Fetal anomalies v0.1 SMPD1 Rebecca Foulger gene: SMPD1 was added
gene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A
Fetal anomalies v0.1 SMOC2 Rebecca Foulger gene: SMOC2 was added
gene: SMOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH
Fetal anomalies v0.1 SMOC1 Rebecca Foulger gene: SMOC1 was added
gene: SMOC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME
Fetal anomalies v0.1 SMO Rebecca Foulger gene: SMO was added
gene: SMO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMO were set to Curry-Jones Syndrome
Fetal anomalies v0.1 SMN1 Rebecca Foulger gene: SMN1 was added
gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253550; Spinal muscular atrophy 271150; Spinal muscular atrophy 253400; Spinal muscular atrophy 253300
Fetal anomalies v0.1 SMG9 Rebecca Foulger gene: SMG9 was added
gene: SMG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMG9 were set to SMG9 Multiple Congenital Anomaly Syndrome
Fetal anomalies v0.1 SMCHD1 Rebecca Foulger gene: SMCHD1 was added
gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome
Fetal anomalies v0.1 SMC3 Rebecca Foulger gene: SMC3 was added
gene: SMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3
Fetal anomalies v0.1 SMC1A Rebecca Foulger gene: SMC1A was added
gene: SMC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2
Fetal anomalies v0.1 SMARCE1 Rebecca Foulger gene: SMARCE1 was added
gene: SMARCE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1
Fetal anomalies v0.1 SMARCAL1 Rebecca Foulger gene: SMARCAL1 was added
gene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA
Fetal anomalies v0.1 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMARCA2 Rebecca Foulger gene: SMARCA2 was added
gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMAD4 Rebecca Foulger gene: SMAD4 was added
gene: SMAD4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME
Fetal anomalies v0.1 SMAD3 Rebecca Foulger gene: SMAD3 was added
gene: SMAD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 SLX4 Rebecca Foulger gene: SLX4 was added
gene: SLX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P
Fetal anomalies v0.1 SLC9A6 Rebecca Foulger gene: SLC9A6 was added
gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE
Fetal anomalies v0.1 SLC6A9 Rebecca Foulger gene: SLC6A9 was added
gene: SLC6A9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis
Fetal anomalies v0.1 SLC6A8 Rebecca Foulger gene: SLC6A8 was added
gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME
Fetal anomalies v0.1 SLC6A5 Rebecca Foulger gene: SLC6A5 was added
gene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to HYPEREKPLEXIA
Fetal anomalies v0.1 SLC6A3 Rebecca Foulger gene: SLC6A3 was added
gene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE
Fetal anomalies v0.1 SLC6A17 Rebecca Foulger gene: SLC6A17 was added
gene: SLC6A17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Fetal anomalies v0.1 SLC6A1 Rebecca Foulger gene: SLC6A1 was added
gene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES
Fetal anomalies v0.1 SLC5A7 Rebecca Foulger gene: SLC5A7 was added
gene: SLC5A7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea
Fetal anomalies v0.1 SLC5A5 Rebecca Foulger gene: SLC5A5 was added
gene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I
Fetal anomalies v0.1 SLC52A3 Rebecca Foulger gene: SLC52A3 was added
gene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME
Fetal anomalies v0.1 SLC4A4 Rebecca Foulger gene: SLC4A4 was added
gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Fetal anomalies v0.1 SLC4A11 Rebecca Foulger gene: SLC4A11 was added
gene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
Fetal anomalies v0.1 SLC4A1 Rebecca Foulger gene: SLC4A1 was added
gene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD
Fetal anomalies v0.1 SLC46A1 Rebecca Foulger gene: SLC46A1 was added
gene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION
Fetal anomalies v0.1 SLC45A1 Rebecca Foulger gene: SLC45A1 was added
gene: SLC45A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy
Fetal anomalies v0.1 SLC39A8 Rebecca Foulger gene: SLC39A8 was added
gene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy
Fetal anomalies v0.1 SLC39A13 Rebecca Foulger gene: SLC39A13 was added
gene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION
Fetal anomalies v0.1 SLC37A4 Rebecca Foulger gene: SLC37A4 was added
gene: SLC37A4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220
Fetal anomalies v0.1 SLC35D1 Rebecca Foulger gene: SLC35D1 was added
gene: SLC35D1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA
Fetal anomalies v0.1 SLC35C1 Rebecca Foulger gene: SLC35C1 was added
gene: SLC35C1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Fetal anomalies v0.1 SLC35A2 Rebecca Foulger gene: SLC35A2 was added
gene: SLC35A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION
Fetal anomalies v0.1 SLC35A1 Rebecca Foulger gene: SLC35A1 was added
gene: SLC35A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Fetal anomalies v0.1 SLC2A2 Rebecca Foulger gene: SLC2A2 was added
gene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME
Fetal anomalies v0.1 SLC2A10 Rebecca Foulger gene: SLC2A10 was added
gene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME
Fetal anomalies v0.1 SLC2A1 Rebecca Foulger gene: SLC2A1 was added
gene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1
Fetal anomalies v0.1 SLC27A4 Rebecca Foulger gene: SLC27A4 was added
gene: SLC27A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME
Fetal anomalies v0.1 SLC26A3 Rebecca Foulger gene: SLC26A3 was added
gene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger gene: SLC26A2 was added
gene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B
Fetal anomalies v0.1 SLC25A4 Rebecca Foulger gene: SLC25A4 was added
gene: SLC25A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Fetal anomalies v0.1 SLC25A38 Rebecca Foulger gene: SLC25A38 was added
gene: SLC25A38 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 SLC25A26 Rebecca Foulger gene: SLC25A26 was added
gene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
Fetal anomalies v0.1 SLC25A24 Rebecca Foulger gene: SLC25A24 was added
gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v0.1 SLC25A22 Rebecca Foulger gene: SLC25A22 was added
gene: SLC25A22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
Fetal anomalies v0.1 SLC25A20 Rebecca Foulger gene: SLC25A20 was added
gene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Fetal anomalies v0.1 SLC25A19 Rebecca Foulger gene: SLC25A19 was added
gene: SLC25A19 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY
Fetal anomalies v0.1 SLC25A15 Rebecca Foulger gene: SLC25A15 was added
gene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Fetal anomalies v0.1 SLC24A4 Rebecca Foulger gene: SLC24A4 was added
gene: SLC24A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA.
Fetal anomalies v0.1 SLC22A5 Rebecca Foulger gene: SLC22A5 was added
gene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY
Fetal anomalies v0.1 SLC1A2 Rebecca Foulger gene: SLC1A2 was added
gene: SLC1A2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 SLC19A3 Rebecca Foulger gene: SLC19A3 was added
gene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2
Fetal anomalies v0.1 SLC17A5 Rebecca Foulger gene: SLC17A5 was added
gene: SLC17A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to SALLA DISEASE
Fetal anomalies v0.1 SLC16A2 Rebecca Foulger gene: SLC16A2 was added
gene: SLC16A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Fetal anomalies v0.1 SLC13A5 Rebecca Foulger gene: SLC13A5 was added
gene: SLC13A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
Fetal anomalies v0.1 SLC12A6 Rebecca Foulger gene: SLC12A6 was added
gene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
Fetal anomalies v0.1 SLC12A1 Rebecca Foulger gene: SLC12A1 was added
gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678
Fetal anomalies v0.1 SKIV2L Rebecca Foulger gene: SKIV2L was added
gene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2
Fetal anomalies v0.1 SKI Rebecca Foulger gene: SKI was added
gene: SKI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.1 SIX5 Rebecca Foulger gene: SIX5 was added
gene: SIX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2
Fetal anomalies v0.1 SIX3 Rebecca Foulger gene: SIX3 was added
gene: SIX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 SIX1 Rebecca Foulger gene: SIX1 was added
gene: SIX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3
Fetal anomalies v0.1 SIN3A Rebecca Foulger gene: SIN3A was added
gene: SIN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SIL1 Rebecca Foulger gene: SIL1 was added
gene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME
Fetal anomalies v0.1 SIK1 Rebecca Foulger gene: SIK1 was added
gene: SIK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM
Fetal anomalies v0.1 SHROOM3 Rebecca Foulger gene: SHROOM3 was added
gene: SHROOM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT
Fetal anomalies v0.1 SHOX Rebecca Foulger gene: SHOX was added
gene: SHOX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA
Fetal anomalies v0.1 SHOC2 Rebecca Foulger gene: SHOC2 was added
gene: SHOC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Fetal anomalies v0.1 SHH Rebecca Foulger gene: SHH was added
gene: SHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
Fetal anomalies v0.1 SHANK3 Rebecca Foulger gene: SHANK3 was added
gene: SHANK3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME
Fetal anomalies v0.1 SHANK2 Rebecca Foulger gene: SHANK2 was added
gene: SHANK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17
Fetal anomalies v0.1 SHANK1 Rebecca Foulger gene: SHANK1 was added
gene: SHANK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK1 were set to AUTISM
Fetal anomalies v0.1 SH3PXD2B Rebecca Foulger gene: SH3PXD2B was added
gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME
Fetal anomalies v0.1 SGSH Rebecca Foulger gene: SGSH was added
gene: SGSH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A
Fetal anomalies v0.1 SGCA Rebecca Foulger gene: SGCA was added
gene: SGCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099
Fetal anomalies v0.1 SF3B4 Rebecca Foulger gene: SF3B4 was added
gene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Fetal anomalies v0.1 SETD5 Rebecca Foulger gene: SETD5 was added
gene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Fetal anomalies v0.1 SETD2 Rebecca Foulger gene: SETD2 was added
gene: SETD2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome
Fetal anomalies v0.1 SETD1A Rebecca Foulger gene: SETD1A was added
gene: SETD1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SETBP1 Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1
Fetal anomalies v0.1 SETBP1 Rebecca Foulger gene: SETBP1 was added
gene: SETBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Fetal anomalies v0.1 SET Rebecca Foulger gene: SET was added
gene: SET was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SET were set to SET syndrome
Fetal anomalies v0.1 SELENON Rebecca Foulger gene: SELENON was added
gene: SELENON was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771
Fetal anomalies v0.1 SECISBP2 Rebecca Foulger gene: SECISBP2 was added
gene: SECISBP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL
Fetal anomalies v0.1 SEC24D Rebecca Foulger gene: SEC24D was added
gene: SEC24D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA
Fetal anomalies v0.1 SEC23B Rebecca Foulger gene: SEC23B was added
gene: SEC23B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Fetal anomalies v0.1 SDHAF1 Rebecca Foulger gene: SDHAF1 was added
gene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY
Fetal anomalies v0.1 SDHA Rebecca Foulger gene: SDHA was added
gene: SDHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to LEIGH SYNDROME
Fetal anomalies v0.1 SDCCAG8 Rebecca Foulger gene: SDCCAG8 was added
gene: SDCCAG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7
Fetal anomalies v0.1 SCYL1 Rebecca Foulger gene: SCYL1 was added
gene: SCYL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Fetal anomalies v0.1 SCO2 Rebecca Foulger gene: SCO2 was added
gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Fetal anomalies v0.1 SCO1 Rebecca Foulger gene: SCO1 was added
gene: SCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 SCN8A Rebecca Foulger gene: SCN8A was added
gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
Fetal anomalies v0.1 SCN4A Rebecca Foulger gene: SCN4A was added
gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS
Fetal anomalies v0.1 SCN3A Rebecca Foulger gene: SCN3A was added
gene: SCN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN3A were set to Focal epilepsy
Fetal anomalies v0.1 SCN2A Rebecca Foulger gene: SCN2A was added
gene: SCN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID
Fetal anomalies v0.1 SCN1B Rebecca Foulger gene: SCN1B was added
gene: SCN1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1
Fetal anomalies v0.1 SCN1A Rebecca Foulger gene: SCN1A was added
gene: SCN1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN1A were set to SCN1A-RELATED SEIZURE DISORDERS
Fetal anomalies v0.1 SCN11A Rebecca Foulger gene: SCN11A was added
gene: SCN11A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN
Fetal anomalies v0.1 SCARF2 Rebecca Foulger gene: SCARF2 was added
gene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME
Fetal anomalies v0.1 SC5D Rebecca Foulger gene: SC5D was added
gene: SC5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS
Fetal anomalies v0.1 SBDS Rebecca Foulger gene: SBDS was added
gene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME
Fetal anomalies v0.1 SATB2 Rebecca Foulger gene: SATB2 was added
gene: SATB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SATB2 were set to CLEFT PALATE ISOLATED
Fetal anomalies v0.1 SASS6 Rebecca Foulger gene: SASS6 was added
gene: SASS6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Exper Review Amber
Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASS6 were set to 24951542
Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402
Fetal anomalies v0.1 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME
Fetal anomalies v0.1 SALL4 Rebecca Foulger gene: SALL4 was added
gene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME
Fetal anomalies v0.1 SALL1 Rebecca Foulger gene: SALL1 was added
gene: SALL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME
Fetal anomalies v0.1 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Fetal anomalies v0.1 RYR1 Rebecca Foulger gene: RYR1 was added
gene: RYR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Fetal anomalies v0.1 TMEM5 Rebecca Foulger gene: TMEM5 was added
gene: TMEM5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY
Fetal anomalies v0.1 RUNX2 Rebecca Foulger gene: RUNX2 was added
gene: RUNX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA
Fetal anomalies v0.1 RTTN Rebecca Foulger gene: RTTN was added
gene: RTTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA
Fetal anomalies v0.1 RTN4IP1 Rebecca Foulger gene: RTN4IP1 was added
gene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Fetal anomalies v0.1 RTEL1 Rebecca Foulger gene: RTEL1 was added
gene: RTEL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Fetal anomalies v0.1 RSPRY1 Rebecca Foulger gene: RSPRY1 was added
gene: RSPRY1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Fetal anomalies v0.1 RSPO4 Rebecca Foulger gene: RSPO4 was added
gene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA
Fetal anomalies v0.1 RSPH9 Rebecca Foulger gene: RSPH9 was added
gene: RSPH9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650
Fetal anomalies v0.1 RSPH4A Rebecca Foulger gene: RSPH4A was added
gene: RSPH4A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649
Fetal anomalies v0.1 RSPH3 Rebecca Foulger gene: RSPH3 was added
gene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
Fetal anomalies v0.1 RSPH1 Rebecca Foulger gene: RSPH1 was added
gene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
Fetal anomalies v0.1 RRM2B Rebecca Foulger gene: RRM2B was added
gene: RRM2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome
Fetal anomalies v0.1 RRAS Rebecca Foulger gene: RRAS was added
gene: RRAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME
Fetal anomalies v0.1 RPS6KA3 Rebecca Foulger gene: RPS6KA3 was added
gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME
Fetal anomalies v0.1 RPS26 Rebecca Foulger gene: RPS26 was added
gene: RPS26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10 613309
Fetal anomalies v0.1 RPS24 Rebecca Foulger gene: RPS24 was added
gene: RPS24 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3 610629
Fetal anomalies v0.1 RPS23 Rebecca Foulger gene: RPS23 was added
gene: RPS23 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features
Fetal anomalies v0.1 RPS19 Rebecca Foulger gene: RPS19 was added
gene: RPS19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
Fetal anomalies v0.1 RPS17 Rebecca Foulger gene: RPS17 was added
gene: RPS17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4 612527
Fetal anomalies v0.1 RPS10 Rebecca Foulger gene: RPS10 was added
gene: RPS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9 613308
Fetal anomalies v0.1 RPL5 Rebecca Foulger gene: RPL5 was added
gene: RPL5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6 612561
Fetal anomalies v0.1 RPL35A Rebecca Foulger gene: RPL35A was added
gene: RPL35A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5 612528
Fetal anomalies v0.1 RPL11 Rebecca Foulger gene: RPL11 was added
gene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs
Fetal anomalies v0.1 RPGRIP1L Rebecca Foulger gene: RPGRIP1L was added
gene: RPGRIP1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME
Fetal anomalies v0.1 RPGRIP1 Rebecca Foulger gene: RPGRIP1 was added
gene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6
Fetal anomalies v0.1 RPE65 Rebecca Foulger gene: RPE65 was added
gene: RPE65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.1 RORA Rebecca Foulger gene: RORA was added
gene: RORA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ROR2 Rebecca Foulger gene: ROR2 was added
gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR
Fetal anomalies v0.1 ROGDI Rebecca Foulger gene: ROGDI was added
gene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME
Fetal anomalies v0.1 ROBO1 Rebecca Foulger gene: ROBO1 was added
gene: ROBO1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ROBO1 were set to 28592524; 28485101
Phenotypes for gene: ROBO1 were set to tetralogy of Fallot and septal defects
Fetal anomalies v0.1 RNU4ATAC Rebecca Foulger gene: RNU4ATAC was added
gene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Fetal anomalies v0.1 RNASET2 Rebecca Foulger gene: RNASET2 was added
gene: RNASET2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
Fetal anomalies v0.1 RNASEH2C Rebecca Foulger gene: RNASEH2C was added
gene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3
Fetal anomalies v0.1 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2
Fetal anomalies v0.1 RNASEH2A Rebecca Foulger gene: RNASEH2A was added
gene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4
Fetal anomalies v0.1 RMRP Rebecca Foulger gene: RMRP was added
gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA
Fetal anomalies v0.1 RMND1 Rebecca Foulger gene: RMND1 was added
gene: RMND1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT
Fetal anomalies v0.1 RLIM Rebecca Foulger gene: RLIM was added
gene: RLIM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 RIT1 Rebecca Foulger gene: RIT1 was added
gene: RIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8
Fetal anomalies v0.1 RIPK4 Rebecca Foulger gene: RIPK4 was added
gene: RIPK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Fetal anomalies v0.1 RIN2 Rebecca Foulger gene: RIN2 was added
gene: RIN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Fetal anomalies v0.1 RFX6 Rebecca Foulger gene: RFX6 was added
gene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME
Fetal anomalies v0.1 RFT1 Rebecca Foulger gene: RFT1 was added
gene: RFT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N
Fetal anomalies v0.1 RETREG1 Rebecca Foulger gene: RETREG1 was added
gene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
Fetal anomalies v0.1 RET Rebecca Foulger gene: RET was added
gene: RET was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RET were set to RENAL AGENESIS
Fetal anomalies v0.1 RERE Rebecca Foulger gene: RERE was added
gene: RERE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions
Fetal anomalies v0.1 REN Rebecca Foulger gene: REN was added
gene: REN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.1 RELN Rebecca Foulger gene: RELN was added
gene: RELN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to LISSENCEPHALY 2
Fetal anomalies v0.1 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME
Fetal anomalies v0.1 RBPJ Rebecca Foulger gene: RBPJ was added
gene: RBPJ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME
Fetal anomalies v0.1 RBM8A Rebecca Foulger gene: RBM8A was added
gene: RBM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Fetal anomalies v0.1 RBM10 Rebecca Foulger gene: RBM10 was added
gene: RBM10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP SYNDROME
Fetal anomalies v0.1 RAX Rebecca Foulger gene: RAX was added
gene: RAX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3
Fetal anomalies v0.1 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME
Fetal anomalies v0.1 RARS2 Rebecca Foulger gene: RARS2 was added
gene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6
Fetal anomalies v0.1 RARB Rebecca Foulger gene: RARB was added
gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Fetal anomalies v0.1 RAPSN Rebecca Foulger gene: RAPSN was added
gene: RAPSN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Fetal anomalies v0.1 RAI1 Rebecca Foulger gene: RAI1 was added
gene: RAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME
Fetal anomalies v0.1 RAF1 Rebecca Foulger gene: RAF1 was added
gene: RAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5
Fetal anomalies v0.1 RAD51C Rebecca Foulger gene: RAD51C was added
gene: RAD51C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0
Fetal anomalies v0.1 RAD51 Rebecca Foulger gene: RAD51 was added
gene: RAD51 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2
Fetal anomalies v0.1 RAD21 Rebecca Foulger gene: RAD21 was added
gene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD21 were set to COHESINOPATHY
Fetal anomalies v0.1 RAC1 Rebecca Foulger gene: RAC1 was added
gene: RAC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes
Fetal anomalies v0.1 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME
Fetal anomalies v0.1 RAB3GAP1 Rebecca Foulger gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1
Fetal anomalies v0.1 RAB39B Rebecca Foulger gene: RAB39B was added
gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS
Fetal anomalies v0.1 RAB23 Rebecca Foulger gene: RAB23 was added
gene: RAB23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Fetal anomalies v0.1 RAB18 Rebecca Foulger gene: RAB18 was added
gene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3
Fetal anomalies v0.1 RAB11B Rebecca Foulger gene: RAB11B was added
gene: RAB11B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 RAB11A Rebecca Foulger gene: RAB11A was added
gene: RAB11A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 QRICH1 Rebecca Foulger gene: QRICH1 was added
gene: QRICH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: QRICH1 were set to QRICH1 syndrome
Fetal anomalies v0.1 QDPR Rebecca Foulger gene: QDPR was added
gene: QDPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C
Fetal anomalies v0.1 QARS Rebecca Foulger gene: QARS was added
gene: QARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY
Fetal anomalies v0.1 PYROXD1 Rebecca Foulger gene: PYROXD1 was added
gene: PYROXD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Fetal anomalies v0.1 PYGL Rebecca Foulger gene: PYGL was added
gene: PYGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI
Fetal anomalies v0.1 PYCR2 Rebecca Foulger gene: PYCR2 was added
gene: PYCR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Fetal anomalies v0.1 PYCR1 Rebecca Foulger gene: PYCR1 was added
gene: PYCR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Fetal anomalies v0.1 PXDN Rebecca Foulger gene: PXDN was added
gene: PXDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
Fetal anomalies v0.1 PURA Rebecca Foulger gene: PURA was added
gene: PURA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PUF60 Rebecca Foulger gene: PUF60 was added
gene: PUF60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PUF60 were set to PUF60 syndrome
Fetal anomalies v0.1 PTS Rebecca Foulger gene: PTS was added
gene: PTS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Fetal anomalies v0.1 PTPN14 Rebecca Foulger gene: PTPN14 was added
gene: PTPN14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA
Fetal anomalies v0.1 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1
Fetal anomalies v0.1 PTHLH Rebecca Foulger gene: PTHLH was added
gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Fetal anomalies v0.1 PTH1R Rebecca Foulger gene: PTH1R was added
gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION
Fetal anomalies v0.1 PTH Rebecca Foulger gene: PTH was added
gene: PTH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM
Fetal anomalies v0.1 PTF1A Rebecca Foulger gene: PTF1A was added
gene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Fetal anomalies v0.1 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME
Fetal anomalies v0.1 PTDSS1 Rebecca Foulger gene: PTDSS1 was added
gene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Fetal anomalies v0.1 PTCHD1 Rebecca Foulger gene: PTCHD1 was added
gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PTCHD1 were set to AUTISM/ID
Fetal anomalies v0.1 PTCH1 Rebecca Foulger gene: PTCH1 was added
gene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7
Fetal anomalies v0.1 PSPH Rebecca Foulger gene: PSPH was added
gene: PSPH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY
Fetal anomalies v0.1 PSMB8 Rebecca Foulger gene: PSMB8 was added
gene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME
Fetal anomalies v0.1 PSAT1 Rebecca Foulger gene: PSAT1 was added
gene: PSAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 PSAP Rebecca Foulger gene: PSAP was added
gene: PSAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE
Fetal anomalies v0.1 PRX Rebecca Foulger gene: PRX was added
gene: PRX was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895
Fetal anomalies v0.1 PRUNE1 Rebecca Foulger gene: PRUNE1 was added
gene: PRUNE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to PEHO Like condition
Fetal anomalies v0.1 PRSS56 Rebecca Foulger gene: PRSS56 was added
gene: PRSS56 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6
Fetal anomalies v0.1 PRSS12 Rebecca Foulger gene: PRSS12 was added
gene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1
Fetal anomalies v0.1 PRRT2 Rebecca Foulger gene: PRRT2 was added
gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 PRPS1 Rebecca Foulger gene: PRPS1 was added
gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
Fetal anomalies v0.1 PROP1 Rebecca Foulger gene: PROP1 was added
gene: PROP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 PROKR2 Rebecca Foulger gene: PROKR2 was added
gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200
Fetal anomalies v0.1 PROK2 Rebecca Foulger gene: PROK2 was added
gene: PROK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628
Fetal anomalies v0.1 PRMT7 Rebecca Foulger gene: PRMT7 was added
gene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder
Fetal anomalies v0.1 PRKD1 Rebecca Foulger gene: PRKD1 was added
gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects
Fetal anomalies v0.1 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS
Fetal anomalies v0.1 PRG4 Rebecca Foulger gene: PRG4 was added
gene: PRG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Fetal anomalies v0.1 PREPL Rebecca Foulger gene: PREPL was added
gene: PREPL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME
Fetal anomalies v0.1 PRDM12 Rebecca Foulger gene: PRDM12 was added
gene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Fetal anomalies v0.1 PQBP1 Rebecca Foulger gene: PQBP1 was added
gene: PQBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1
Fetal anomalies v0.1 PPT1 Rebecca Foulger gene: PPT1 was added
gene: PPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1
Fetal anomalies v0.1 PPP3CA Rebecca Foulger gene: PPP3CA was added
gene: PPP3CA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures
Fetal anomalies v0.1 PPP2R5D Rebecca Foulger gene: PPP2R5D was added
gene: PPP2R5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PPP2R1A Rebecca Foulger gene: PPP2R1A was added
gene: PPP2R1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PPP1CB Rebecca Foulger gene: PPP1CB was added
gene: PPP1CB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair
Fetal anomalies v0.1 PPM1D Rebecca Foulger gene: PPM1D was added
gene: PPM1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPM1D were set to PPM1D syndrome
Fetal anomalies v0.1 PPIB Rebecca Foulger gene: PPIB was added
gene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440
Fetal anomalies v0.1 PPA2 Rebecca Foulger gene: PPA2 was added
gene: PPA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger
Fetal anomalies v0.1 POU1F1 Rebecca Foulger gene: POU1F1 was added
gene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 PORCN Rebecca Foulger gene: PORCN was added
gene: PORCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PORCN were set to FOCAL DERMAL HYPOPLASIA
Fetal anomalies v0.1 POR Rebecca Foulger gene: POR was added
gene: POR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Fetal anomalies v0.1 POMT2 Rebecca Foulger gene: POMT2 was added
gene: POMT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2
Fetal anomalies v0.1 POMT1 Rebecca Foulger gene: POMT1 was added
gene: POMT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1
Fetal anomalies v0.1 POMK Rebecca Foulger gene: POMK was added
gene: POMK was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
Fetal anomalies v0.1 POMGNT2 Rebecca Foulger gene: POMGNT2 was added
gene: POMGNT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME
Fetal anomalies v0.1 POMGNT1 Rebecca Foulger gene: POMGNT1 was added
gene: POMGNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3
Fetal anomalies v0.1 POLR3B Rebecca Foulger gene: POLR3B was added
gene: POLR3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 POLR3A Rebecca Foulger gene: POLR3A was added
gene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 POLR1D Rebecca Foulger gene: POLR1D was added
gene: POLR1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2
Fetal anomalies v0.1 POLR1C Rebecca Foulger gene: POLR1C was added
gene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3
Fetal anomalies v0.1 POLR1A Rebecca Foulger gene: POLR1A was added
gene: POLR1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Fetal anomalies v0.1 POLG Rebecca Foulger gene: POLG was added
gene: POLG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A
Fetal anomalies v0.1 POLD1 Rebecca Foulger gene: POLD1 was added
gene: POLD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Fetal anomalies v0.1 POGZ Rebecca Foulger gene: POGZ was added
gene: POGZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 POC1B Rebecca Foulger gene: POC1B was added
gene: POC1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Fetal anomalies v0.1 POC1A Rebecca Foulger gene: POC1A was added
gene: POC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
Fetal anomalies v0.1 PNPT1 Rebecca Foulger gene: PNPT1 was added
gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER
Fetal anomalies v0.1 PNPLA1 Rebecca Foulger gene: PNPLA1 was added
gene: PNPLA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS
Fetal anomalies v0.1 PNKP Rebecca Foulger gene: PNKP was added
gene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
Fetal anomalies v0.1 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME
Fetal anomalies v0.1 PMP22 Rebecca Foulger gene: PMP22 was added
gene: PMP22 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease, type 1A 118220
Fetal anomalies v0.1 PMM2 Rebecca Foulger gene: PMM2 was added
gene: PMM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 PLPBP Rebecca Foulger gene: PLPBP was added
gene: PLPBP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy
Fetal anomalies v0.1 PLP1 Rebecca Foulger gene: PLP1 was added
gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1
Fetal anomalies v0.1 PLOD2 Rebecca Foulger gene: PLOD2 was added
gene: PLOD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2
Fetal anomalies v0.1 PLOD1 Rebecca Foulger gene: PLOD1 was added
gene: PLOD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
Fetal anomalies v0.1 PLK4 Rebecca Foulger gene: PLK4 was added
gene: PLK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Fetal anomalies v0.1 PLCE1 Rebecca Foulger gene: PLCE1 was added
gene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3
Fetal anomalies v0.1 PLCB4 Rebecca Foulger gene: PLCB4 was added
gene: PLCB4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.1 PLCB1 Rebecca Foulger gene: PLCB1 was added
gene: PLCB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Fetal anomalies v0.1 PLAA Rebecca Foulger gene: PLAA was added
gene: PLAA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy
Fetal anomalies v0.1 PLA2G6 Rebecca Foulger gene: PLA2G6 was added
gene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
Fetal anomalies v0.1 PKLR Rebecca Foulger gene: PKLR was added
gene: PKLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency 266200
Fetal anomalies v0.1 PKHD1 Rebecca Foulger gene: PKHD1 was added
gene: PKHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 PKD2 Rebecca Foulger gene: PKD2 was added
gene: PKD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD2 were set to Polycystic kidney disease 613095
Fetal anomalies v0.1 PKD1L1 Rebecca Foulger gene: PKD1L1 was added
gene: PKD1L1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKD1L1 were set to Laterality defects
Fetal anomalies v0.1 PKD1 Rebecca Foulger gene: PKD1 was added
gene: PKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD1 were set to Polycystic kidney disease 173900
Fetal anomalies v0.1 PITX3 Rebecca Foulger gene: PITX3 was added
gene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4
Fetal anomalies v0.1 PITX2 Rebecca Foulger gene: PITX2 was added
gene: PITX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2
Fetal anomalies v0.1 PITX1 Rebecca Foulger gene: PITX1 was added
gene: PITX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS
Fetal anomalies v0.1 PIK3R2 Rebecca Foulger gene: PIK3R2 was added
gene: PIK3R2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
Fetal anomalies v0.1 PIK3R1 Rebecca Foulger gene: PIK3R1 was added
gene: PIK3R1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME
Fetal anomalies v0.1 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
Fetal anomalies v0.1 PIGY Rebecca Foulger gene: PIGY was added
gene: PIGY was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency
Fetal anomalies v0.1 PIGV Rebecca Foulger gene: PIGV was added
gene: PIGV was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION
Fetal anomalies v0.1 PIGT Rebecca Foulger gene: PIGT was added
gene: PIGT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
Fetal anomalies v0.1 PIGO Rebecca Foulger gene: PIGO was added
gene: PIGO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Fetal anomalies v0.1 PIGN Rebecca Foulger gene: PIGN was added
gene: PIGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME
Fetal anomalies v0.1 PIGL Rebecca Foulger gene: PIGL was added
gene: PIGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME
Fetal anomalies v0.1 PIGG Rebecca Foulger gene: PIGG was added
gene: PIGG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia
Fetal anomalies v0.1 PIGA Rebecca Foulger gene: PIGA was added
gene: PIGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Fetal anomalies v0.1 PIEZO2 Rebecca Foulger gene: PIEZO2 was added
gene: PIEZO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3
Fetal anomalies v0.1 PIEZO1 Rebecca Foulger gene: PIEZO1 was added
gene: PIEZO1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to 26333996
Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Fetal anomalies v0.1 PHOX2B Rebecca Foulger gene: PHOX2B was added
gene: PHOX2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Fetal anomalies v0.1 PHIP Rebecca Foulger gene: PHIP was added
gene: PHIP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features
Fetal anomalies v0.1 PHGDH Rebecca Foulger gene: PHGDH was added
gene: PHGDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME
Fetal anomalies v0.1 PHF8 Rebecca Foulger gene: PHF8 was added
gene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Fetal anomalies v0.1 PHF6 Rebecca Foulger gene: PHF6 was added
gene: PHF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME
Fetal anomalies v0.1 PHF21A Rebecca Foulger gene: PHF21A was added
gene: PHF21A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME
Fetal anomalies v0.1 PGM3 Rebecca Foulger gene: PGM3 was added
gene: PGM3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to IMMUNODEFICIENCY 23
Fetal anomalies v0.1 PGM1 Rebecca Foulger gene: PGM1 was added
gene: PGM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
Fetal anomalies v0.1 PGK1 Rebecca Foulger gene: PGK1 was added
gene: PGK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
Fetal anomalies v0.1 PGAP3 Rebecca Foulger gene: PGAP3 was added
gene: PGAP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Fetal anomalies v0.1 PGAP2 Rebecca Foulger gene: PGAP2 was added
gene: PGAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PGAP1 Rebecca Foulger gene: PGAP1 was added
gene: PGAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation
Fetal anomalies v0.1 PEX7 Rebecca Foulger gene: PEX7 was added
gene: PEX7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to REFSUM DISEASE
Fetal anomalies v0.1 PEX6 Rebecca Foulger gene: PEX6 was added
gene: PEX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX5 Rebecca Foulger gene: PEX5 was added
gene: PEX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.1 PEX3 Rebecca Foulger gene: PEX3 was added
gene: PEX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12
Fetal anomalies v0.1 PEX26 Rebecca Foulger gene: PEX26 was added
gene: PEX26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to INFANTILE REFSUM DISEASE
Fetal anomalies v0.1 PEX2 Rebecca Foulger gene: PEX2 was added
gene: PEX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX19 Rebecca Foulger gene: PEX19 was added
gene: PEX19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX16 Rebecca Foulger gene: PEX16 was added
gene: PEX16 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Fetal anomalies v0.1 PEX14 Rebecca Foulger gene: PEX14 was added
gene: PEX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX13 Rebecca Foulger gene: PEX13 was added
gene: PEX13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.1 PEX12 Rebecca Foulger gene: PEX12 was added
gene: PEX12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX11B Rebecca Foulger gene: PEX11B was added
gene: PEX11B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B
Fetal anomalies v0.1 PEX10 Rebecca Foulger gene: PEX10 was added
gene: PEX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.1 PEX1 Rebecca Foulger gene: PEX1 was added
gene: PEX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1
Fetal anomalies v0.1 PET100 Rebecca Foulger gene: PET100 was added
gene: PET100 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 PEPD Rebecca Foulger gene: PEPD was added
gene: PEPD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY
Fetal anomalies v0.1 PDSS2 Rebecca Foulger gene: PDSS2 was added
gene: PDSS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3
Fetal anomalies v0.1 PDSS1 Rebecca Foulger gene: PDSS1 was added
gene: PDSS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2
Fetal anomalies v0.1 PDHX Rebecca Foulger gene: PDHX was added
gene: PDHX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY
Fetal anomalies v0.1 PDHA1 Rebecca Foulger gene: PDHA1 was added
gene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME
Fetal anomalies v0.1 PDGFRB Rebecca Foulger gene: PDGFRB was added
gene: PDGFRB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS
Fetal anomalies v0.1 PDE6H Rebecca Foulger gene: PDE6H was added
gene: PDE6H was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6H were set to ACHROMATOPSIA
Fetal anomalies v0.1 PDE6G Rebecca Foulger gene: PDE6G was added
gene: PDE6G was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57
Fetal anomalies v0.1 PDE4D Rebecca Foulger gene: PDE4D was added
gene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS
Fetal anomalies v0.1 PDE10A Rebecca Foulger gene: PDE10A was added
gene: PDE10A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions
Fetal anomalies v0.1 PDCD10 Rebecca Foulger gene: PDCD10 was added
gene: PDCD10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3
Fetal anomalies v0.1 PCYT1A Rebecca Foulger gene: PCYT1A was added
gene: PCYT1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Fetal anomalies v0.1 PCNT Rebecca Foulger gene: PCNT was added
gene: PCNT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Fetal anomalies v0.1 PCGF2 Rebecca Foulger gene: PCGF2 was added
gene: PCGF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY
Fetal anomalies v0.1 PCDH19 Rebecca Foulger gene: PCDH19 was added
gene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9
Fetal anomalies v0.1 PCCB Rebecca Foulger gene: PCCB was added
gene: PCCB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA
Fetal anomalies v0.1 PCCA Rebecca Foulger gene: PCCA was added
gene: PCCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA
Fetal anomalies v0.1 PCBD1 Rebecca Foulger gene: PCBD1 was added
gene: PCBD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
Fetal anomalies v0.1 C2orf71 Rebecca Foulger gene: C2orf71 was added
gene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54
Fetal anomalies v0.1 PC Rebecca Foulger gene: PC was added
gene: PC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY
Fetal anomalies v0.1 PAX9 Rebecca Foulger gene: PAX9 was added
gene: PAX9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3
Fetal anomalies v0.1 PAX8 Rebecca Foulger gene: PAX8 was added
gene: PAX8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Fetal anomalies v0.1 PAX6 Rebecca Foulger gene: PAX6 was added
gene: PAX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY
Fetal anomalies v0.1 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1
Fetal anomalies v0.1 PAX2 Rebecca Foulger gene: PAX2 was added
gene: PAX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME
Fetal anomalies v0.1 PARN Rebecca Foulger gene: PARN was added
gene: PARN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6
Fetal anomalies v0.1 PAPSS2 Rebecca Foulger gene: PAPSS2 was added
gene: PAPSS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE
Fetal anomalies v0.1 PALB2 Rebecca Foulger gene: PALB2 was added
gene: PALB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N
Fetal anomalies v0.1 PAK3 Rebecca Foulger gene: PAK3 was added
gene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM
Fetal anomalies v0.1 PAH Rebecca Foulger gene: PAH was added
gene: PAH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA
Fetal anomalies v0.1 PAFAH1B1 Rebecca Foulger gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1
Fetal anomalies v0.1 PACS1 Rebecca Foulger gene: PACS1 was added
gene: PACS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 P4HB Rebecca Foulger gene: P4HB was added
gene: P4HB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME
Fetal anomalies v0.1 P3H1 Rebecca Foulger gene: P3H1 was added
gene: P3H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII
Fetal anomalies v0.1 OXCT1 Rebecca Foulger gene: OXCT1 was added
gene: OXCT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY
Fetal anomalies v0.1 OTX2 Rebecca Foulger gene: OTX2 was added
gene: OTX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5
Fetal anomalies v0.1 OTULIN Rebecca Foulger gene: OTULIN was added
gene: OTULIN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome
Fetal anomalies v0.1 OTUD6B Rebecca Foulger gene: OTUD6B was added
gene: OTUD6B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Fetal anomalies v0.1 OTOGL Rebecca Foulger gene: OTOGL was added
gene: OTOGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS
Fetal anomalies v0.1 OTC Rebecca Foulger gene: OTC was added
gene: OTC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Fetal anomalies v0.1 OSTM1 Rebecca Foulger gene: OSTM1 was added
gene: OSTM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis 259720
Fetal anomalies v0.1 OSGEP Rebecca Foulger gene: OSGEP was added
gene: OSGEP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly
Fetal anomalies v0.1 ORC6 Rebecca Foulger gene: ORC6 was added
gene: ORC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3
Fetal anomalies v0.1 ORC4 Rebecca Foulger gene: ORC4 was added
gene: ORC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2
Fetal anomalies v0.1 ORC1 Rebecca Foulger gene: ORC1 was added
gene: ORC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1
Fetal anomalies v0.1 OPHN1 Rebecca Foulger gene: OPHN1 was added
gene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED
Fetal anomalies v0.1 OFD1 Rebecca Foulger gene: OFD1 was added
gene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
Fetal anomalies v0.1 C4orf26 Rebecca Foulger gene: C4orf26 was added
gene: C4orf26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C4orf26 were set to AMYELOGENESIS
Fetal anomalies v0.1 OCRL Rebecca Foulger gene: OCRL was added
gene: OCRL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME
Fetal anomalies v0.1 OCLN Rebecca Foulger gene: OCLN was added
gene: OCLN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290
Fetal anomalies v0.1 OBSL1 Rebecca Foulger gene: OBSL1 was added
gene: OBSL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M SYNDROME 2
Fetal anomalies v0.1 NYX Rebecca Foulger gene: NYX was added
gene: NYX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
Fetal anomalies v0.1 NUS1 Rebecca Foulger gene: NUS1 was added
gene: NUS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 NUP62 Rebecca Foulger gene: NUP62 was added
gene: NUP62 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION
Fetal anomalies v0.1 NUP107 Rebecca Foulger gene: NUP107 was added
gene: NUP107 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.1 NUBPL Rebecca Foulger gene: NUBPL was added
gene: NUBPL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NTRK2 Rebecca Foulger gene: NTRK2 was added
gene: NTRK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 NTRK1 Rebecca Foulger gene: NTRK1 was added
gene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
Fetal anomalies v0.1 NT5C3A Rebecca Foulger gene: NT5C3A was added
gene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
Fetal anomalies v0.1 NT5C2 Rebecca Foulger gene: NT5C2 was added
gene: NT5C2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive 613162
Fetal anomalies v0.1 NSUN2 Rebecca Foulger gene: NSUN2 was added
gene: NSUN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
Fetal anomalies v0.1 NSMF Rebecca Foulger gene: NSMF was added
gene: NSMF was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838
Fetal anomalies v0.1 NSDHL Rebecca Foulger gene: NSDHL was added
gene: NSDHL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NSDHL were set to CK SYNDROME
Fetal anomalies v0.1 NSD1 Rebecca Foulger gene: NSD1 was added
gene: NSD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD1 were set to WEAVER SYNDROME
Fetal anomalies v0.1 NRXN2 Rebecca Foulger gene: NRXN2 was added
gene: NRXN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NRXN2 were set to AUTISM
Fetal anomalies v0.1 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6
Fetal anomalies v0.1 NR5A1 Rebecca Foulger gene: NR5A1 was added
gene: NR5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3
Fetal anomalies v0.1 NR2F2 Rebecca Foulger gene: NR2F2 was added
gene: NR2F2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
Fetal anomalies v0.1 NR2F1 Rebecca Foulger gene: NR2F1 was added
gene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME
Fetal anomalies v0.1 NR0B1 Rebecca Foulger gene: NR0B1 was added
gene: NR0B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive 300018
Fetal anomalies v0.1 NPR2 Rebecca Foulger gene: NPR2 was added
gene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Fetal anomalies v0.1 NPHS2 Rebecca Foulger gene: NPHS2 was added
gene: NPHS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2
Fetal anomalies v0.1 NPHS1 Rebecca Foulger gene: NPHS1 was added
gene: NPHS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1
Fetal anomalies v0.1 NPHP4 Rebecca Foulger gene: NPHP4 was added
gene: NPHP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4
Fetal anomalies v0.1 NPHP3 Rebecca Foulger gene: NPHP3 was added
gene: NPHP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to MECKEL SYNDROME TYPE 7
Fetal anomalies v0.1 NPHP1 Rebecca Foulger gene: NPHP1 was added
gene: NPHP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to SENIOR-LOKEN SYNDROME TYPE 1
Fetal anomalies v0.1 NPC2 Rebecca Foulger gene: NPC2 was added
gene: NPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2
Fetal anomalies v0.1 NPC1 Rebecca Foulger gene: NPC1 was added
gene: NPC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1
Fetal anomalies v0.1 NOVA2 Rebecca Foulger gene: NOVA2 was added
gene: NOVA2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity
Fetal anomalies v0.1 NOTCH2 Rebecca Foulger gene: NOTCH2 was added
gene: NOTCH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME
Fetal anomalies v0.1 NOTCH1 Rebecca Foulger gene: NOTCH1 was added
gene: NOTCH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION
Fetal anomalies v0.1 NONO Rebecca Foulger gene: NONO was added
gene: NONO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.1 NOG Rebecca Foulger gene: NOG was added
gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME
Fetal anomalies v0.1 NODAL Rebecca Foulger gene: NODAL was added
gene: NODAL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME
Fetal anomalies v0.1 NMNAT1 Rebecca Foulger gene: NMNAT1 was added
gene: NMNAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.1 NKX6-2 Rebecca Foulger gene: NKX6-2 was added
gene: NKX6-2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination
Fetal anomalies v0.1 NKX3-2 Rebecca Foulger gene: NKX3-2 was added
gene: NKX3-2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
Fetal anomalies v0.1 NKX2-5 Rebecca Foulger gene: NKX2-5 was added
gene: NKX2-5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
Fetal anomalies v0.1 NKX2-1 Rebecca Foulger gene: NKX2-1 was added
gene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA
Fetal anomalies v0.1 NIPBL Rebecca Foulger gene: NIPBL was added
gene: NIPBL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1
Fetal anomalies v0.1 NHS Rebecca Foulger gene: NHS was added
gene: NHS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME
Fetal anomalies v0.1 NHP2 Rebecca Foulger gene: NHP2 was added
gene: NHP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.1 NHEJ1 Rebecca Foulger gene: NHEJ1 was added
gene: NHEJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291
Fetal anomalies v0.1 NGLY1 Rebecca Foulger gene: NGLY1 was added
gene: NGLY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION
Fetal anomalies v0.1 NFU1 Rebecca Foulger gene: NFU1 was added
gene: NFU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Fetal anomalies v0.1 NFIX Rebecca Foulger gene: NFIX was added
gene: NFIX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME
Fetal anomalies v0.1 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME
Fetal anomalies v0.1 NEXMIF Rebecca Foulger gene: NEXMIF was added
gene: NEXMIF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NEXMIF were set to KIAA2022
Fetal anomalies v0.1 NEU1 Rebecca Foulger gene: NEU1 was added
gene: NEU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to SIALIDOSIS
Fetal anomalies v0.1 NEK9 Rebecca Foulger gene: NEK9 was added
gene: NEK9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10 617022
Fetal anomalies v0.1 NEK8 Rebecca Foulger gene: NEK8 was added
gene: NEK8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9
Fetal anomalies v0.1 NEK1 Rebecca Foulger gene: NEK1 was added
gene: NEK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
Fetal anomalies v0.1 NEDD4L Rebecca Foulger gene: NEDD4L was added
gene: NEDD4L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
Fetal anomalies v0.1 NECTIN4 Rebecca Foulger gene: NECTIN4 was added
gene: NECTIN4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
Fetal anomalies v0.1 NEB Rebecca Foulger gene: NEB was added
gene: NEB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY
Fetal anomalies v0.1 NDUFV1 Rebecca Foulger gene: NDUFV1 was added
gene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS8 Rebecca Foulger gene: NDUFS8 was added
gene: NDUFS8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS7 Rebecca Foulger gene: NDUFS7 was added
gene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS4 Rebecca Foulger gene: NDUFS4 was added
gene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS1 Rebecca Foulger gene: NDUFS1 was added
gene: NDUFS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to LEIGH SYNDROME
Fetal anomalies v0.1 NDUFB11 Rebecca Foulger gene: NDUFB11 was added
gene: NDUFB11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
Fetal anomalies v0.1 NDUFAF2 Rebecca Foulger gene: NDUFAF2 was added
gene: NDUFAF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME
Fetal anomalies v0.1 NDUFA10 Rebecca Foulger gene: NDUFA10 was added
gene: NDUFA10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP
Fetal anomalies v0.1 NDUFA1 Rebecca Foulger gene: NDUFA1 was added
gene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDP Rebecca Foulger gene: NDP was added
gene: NDP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to NORRIE DISEASE
Fetal anomalies v0.1 NDE1 Rebecca Foulger gene: NDE1 was added
gene: NDE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to LISSENCEPHALY 4
Fetal anomalies v0.1 NBN Rebecca Foulger gene: NBN was added
gene: NBN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME
Fetal anomalies v0.1 NBAS Rebecca Foulger gene: NBAS was added
gene: NBAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
Fetal anomalies v0.1 NAXE Rebecca Foulger gene: NAXE was added
gene: NAXE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood
Fetal anomalies v0.1 NANS Rebecca Foulger gene: NANS was added
gene: NANS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia
Fetal anomalies v0.1 NALCN Rebecca Foulger gene: NALCN was added
gene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
Fetal anomalies v0.1 NAGS Rebecca Foulger gene: NAGS was added
gene: NAGS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Fetal anomalies v0.1 NAGLU Rebecca Foulger gene: NAGLU was added
gene: NAGLU was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B
Fetal anomalies v0.1 NAGA Rebecca Foulger gene: NAGA was added
gene: NAGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to KANZAKI DISEASE
Fetal anomalies v0.1 NACC1 Rebecca Foulger gene: NACC1 was added
gene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Fetal anomalies v0.1 NAA15 Rebecca Foulger gene: NAA15 was added
gene: NAA15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
Fetal anomalies v0.1 NAA10 Rebecca Foulger gene: NAA10 was added
gene: NAA10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NAA10 were set to NONPECIFIC SEVERE ID
Fetal anomalies v0.1 MYT1L Rebecca Foulger gene: MYT1L was added
gene: MYT1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYT1L were set to MYT1L syndrome
Fetal anomalies v0.1 MYT1 Rebecca Foulger gene: MYT1 was added
gene: MYT1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 28612832
Phenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS)
Fetal anomalies v0.1 MYO7A Rebecca Foulger gene: MYO7A was added
gene: MYO7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2
Fetal anomalies v0.1 MYO5B Rebecca Foulger gene: MYO5B was added
gene: MYO5B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE
Fetal anomalies v0.1 MYO5A Rebecca Foulger gene: MYO5A was added
gene: MYO5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to ELEJALDE SYNDROME
Fetal anomalies v0.1 MYLK Rebecca Foulger gene: MYLK was added
gene: MYLK was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYLK were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Fetal anomalies v0.1 MYH9 Rebecca Foulger gene: MYH9 was added
gene: MYH9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH9 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 17
Fetal anomalies v0.1 MYH8 Rebecca Foulger gene: MYH8 was added
gene: MYH8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT
Fetal anomalies v0.1 MYH6 Rebecca Foulger gene: MYH6 was added
gene: MYH6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3
Fetal anomalies v0.1 MYH3 Rebecca Foulger gene: MYH3 was added
gene: MYH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B
Fetal anomalies v0.1 MYCN Rebecca Foulger gene: MYCN was added
gene: MYCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1
Fetal anomalies v0.1 MYBPC1 Rebecca Foulger gene: MYBPC1 was added
gene: MYBPC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYBPC1 were set to Arthrogryposis, distal, type 1B 614335
Fetal anomalies v0.1 MUT Rebecca Foulger gene: MUT was added
gene: MUT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT
Fetal anomalies v0.1 MUSK Rebecca Foulger gene: MUSK was added
gene: MUSK was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Fetal akinesia deformation sequence
Fetal anomalies v0.1 MT-TP Rebecca Foulger gene: MT-TP was added
gene: MT-TP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF
Fetal anomalies v0.1 MTRR Rebecca Foulger gene: MTRR was added
gene: MTRR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE
Fetal anomalies v0.1 MTR Rebecca Foulger gene: MTR was added
gene: MTR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G
Fetal anomalies v0.1 MTOR Rebecca Foulger gene: MTOR was added
gene: MTOR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome
Fetal anomalies v0.1 MTO1 Rebecca Foulger gene: MTO1 was added
gene: MTO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS
Fetal anomalies v0.1 MTM1 Rebecca Foulger gene: MTM1 was added
gene: MTM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED
Fetal anomalies v0.1 MTHFR Rebecca Foulger gene: MTHFR was added
gene: MTHFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.1 MSX2 Rebecca Foulger gene: MSX2 was added
gene: MSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM
Fetal anomalies v0.1 MSX1 Rebecca Foulger gene: MSX1 was added
gene: MSX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE
Fetal anomalies v0.1 MSL3 Rebecca Foulger gene: MSL3 was added
gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: MSL3 were set to MSL3 syndrome
Fetal anomalies v0.1 MSH6 Rebecca Foulger gene: MSH6 was added
gene: MSH6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.1 MSH2 Rebecca Foulger gene: MSH2 was added
gene: MSH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.1 MRPS34 Rebecca Foulger gene: MRPS34 was added
gene: MRPS34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
Fetal anomalies v0.1 MRPS22 Rebecca Foulger gene: MRPS22 was added
gene: MRPS22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
Fetal anomalies v0.1 MRE11 Rebecca Foulger gene: MRE11 was added
gene: MRE11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER
Fetal anomalies v0.1 MPZ Rebecca Foulger gene: MPZ was added
gene: MPZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease, dominant intermediate D 607791
Fetal anomalies v0.1 MPV17 Rebecca Foulger gene: MPV17 was added
gene: MPV17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6
Fetal anomalies v0.1 MPLKIP Rebecca Foulger gene: MPLKIP was added
gene: MPLKIP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Fetal anomalies v0.1 MPI Rebecca Foulger gene: MPI was added
gene: MPI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 MPDU1 Rebecca Foulger gene: MPDU1 was added
gene: MPDU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 MOGS Rebecca Foulger gene: MOGS was added
gene: MOGS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 MOCS2 Rebecca Foulger gene: MOCS2 was added
gene: MOCS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY
Fetal anomalies v0.1 MOCS1 Rebecca Foulger gene: MOCS1 was added
gene: MOCS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY
Fetal anomalies v0.1 MNX1 Rebecca Foulger gene: MNX1 was added
gene: MNX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME
Fetal anomalies v0.1 MMP21 Rebecca Foulger gene: MMP21 was added
gene: MMP21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy
Fetal anomalies v0.1 MMP13 Rebecca Foulger gene: MMP13 was added
gene: MMP13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE
Fetal anomalies v0.1 MMADHC Rebecca Foulger gene: MMADHC was added
gene: MMADHC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD
Fetal anomalies v0.1 MMACHC Rebecca Foulger gene: MMACHC was added
gene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Fetal anomalies v0.1 MMAB Rebecca Foulger gene: MMAB was added
gene: MMAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB
Fetal anomalies v0.1 MMAA Rebecca Foulger gene: MMAA was added
gene: MMAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA
Fetal anomalies v0.1 MLYCD Rebecca Foulger gene: MLYCD was added
gene: MLYCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY
Fetal anomalies v0.1 MLH1 Rebecca Foulger gene: MLH1 was added
gene: MLH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.1 MLC1 Rebecca Foulger gene: MLC1 was added
gene: MLC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS
Fetal anomalies v0.1 MKS1 Rebecca Foulger gene: MKS1 was added
gene: MKS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1
Fetal anomalies v0.1 MKKS Rebecca Foulger gene: MKKS was added
gene: MKKS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to MCKUSICK-KAUFMAN SYNDROME
Fetal anomalies v0.1 MITF Rebecca Foulger gene: MITF was added
gene: MITF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM
Fetal anomalies v0.1 MIR17HG Rebecca Foulger gene: MIR17HG was added
gene: MIR17HG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME
Fetal anomalies v0.1 MID1 Rebecca Foulger gene: MID1 was added
gene: MID1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED
Fetal anomalies v0.1 MICU1 Rebecca Foulger gene: MICU1 was added
gene: MICU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
Fetal anomalies v0.1 MGP Rebecca Foulger gene: MGP was added
gene: MGP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to KEUTEL SYNDROME
Fetal anomalies v0.1 MGAT2 Rebecca Foulger gene: MGAT2 was added
gene: MGAT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A
Fetal anomalies v0.1 MFSD8 Rebecca Foulger gene: MFSD8 was added
gene: MFSD8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS
Fetal anomalies v0.1 MFSD2A Rebecca Foulger gene: MFSD2A was added
gene: MFSD2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 MFRP Rebecca Foulger gene: MFRP was added
gene: MFRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to NANOPHTHALMOS 2
Fetal anomalies v0.1 MESP2 Rebecca Foulger gene: MESP2 was added
gene: MESP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2
Fetal anomalies v0.1 MEOX1 Rebecca Foulger gene: MEOX1 was added
gene: MEOX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL ANOMALY
Fetal anomalies v0.1 MEGF8 Rebecca Foulger gene: MEGF8 was added
gene: MEGF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME
Fetal anomalies v0.1 MEGF10 Rebecca Foulger gene: MEGF10 was added
gene: MEGF10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA
Fetal anomalies v0.1 MEF2C Rebecca Foulger gene: MEF2C was added
gene: MEF2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
Fetal anomalies v0.1 MED17 Rebecca Foulger gene: MED17 was added
gene: MED17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Fetal anomalies v0.1 MED13L Rebecca Foulger gene: MED13L was added
gene: MED13L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 MED12 Rebecca Foulger gene: MED12 was added
gene: MED12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME
Fetal anomalies v0.1 MECR Rebecca Foulger gene: MECR was added
gene: MECR was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy
Fetal anomalies v0.1 MECP2 Rebecca Foulger gene: MECP2 was added
gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[
Fetal anomalies v0.1 MECOM Rebecca Foulger gene: MECOM was added
gene: MECOM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Fetal anomalies v0.1 MDH2 Rebecca Foulger gene: MDH2 was added
gene: MDH2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy
Fetal anomalies v0.1 MCPH1 Rebecca Foulger gene: MCPH1 was added
gene: MCPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1
Fetal anomalies v0.1 MCOLN1 Rebecca Foulger gene: MCOLN1 was added
gene: MCOLN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV
Fetal anomalies v0.1 MCEE Rebecca Foulger gene: MCEE was added
gene: MCEE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY
Fetal anomalies v0.1 MCCC2 Rebecca Foulger gene: MCCC2 was added
gene: MCCC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
Fetal anomalies v0.1 MCCC1 Rebecca Foulger gene: MCCC1 was added
gene: MCCC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Fetal anomalies v0.1 MC2R Rebecca Foulger gene: MC2R was added
gene: MC2R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1
Fetal anomalies v0.1 MBTPS2 Rebecca Foulger gene: MBTPS2 was added
gene: MBTPS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205
Fetal anomalies v0.1 MBOAT7 Rebecca Foulger gene: MBOAT7 was added
gene: MBOAT7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Fetal anomalies v0.1 MATN3 Rebecca Foulger gene: MATN3 was added
gene: MATN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Fetal anomalies v0.1 MAT1A Rebecca Foulger gene: MAT1A was added
gene: MAT1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 MASP1 Rebecca Foulger gene: MASP1 was added
gene: MASP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1
Fetal anomalies v0.1 MAPRE2 Rebecca Foulger gene: MAPRE2 was added
gene: MAPRE2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type
Fetal anomalies v0.1 MAP3K7 Rebecca Foulger gene: MAP3K7 was added
gene: MAP3K7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome
Fetal anomalies v0.1 MAP3K1 Rebecca Foulger gene: MAP3K1 was added
gene: MAP3K1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6
Fetal anomalies v0.1 MAP2K2 Rebecca Foulger gene: MAP2K2 was added
gene: MAP2K2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.1 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.1 MAOA Rebecca Foulger gene: MAOA was added
gene: MAOA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to BRUNNER SYNDROME
Fetal anomalies v0.1 MANBA Rebecca Foulger gene: MANBA was added
gene: MANBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS
Fetal anomalies v0.1 MAN2B1 Rebecca Foulger gene: MAN2B1 was added
gene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS
Fetal anomalies v0.1 MAN1B1 Rebecca Foulger gene: MAN1B1 was added
gene: MAN1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 MAMLD1 Rebecca Foulger gene: MAMLD1 was added
gene: MAMLD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2
Fetal anomalies v0.1 MAGEL2 Rebecca Foulger gene: MAGEL2 was added
gene: MAGEL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome
Fetal anomalies v0.1 MAFB Rebecca Foulger gene: MAFB was added
gene: MAFB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
Fetal anomalies v0.1 MAF Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED for gene: MAF
Fetal anomalies v0.1 MAF Rebecca Foulger gene: MAF was added
gene: MAF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Fetal anomalies v0.1 MAB21L2 Rebecca Foulger gene: MAB21L2 was added
gene: MAB21L2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14
Fetal anomalies v0.1 LZTFL1 Rebecca Foulger gene: LZTFL1 was added
gene: LZTFL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 615994
Fetal anomalies v0.1 LYST Rebecca Foulger gene: LYST was added
gene: LYST was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME
Fetal anomalies v0.1 LTBP4 Rebecca Foulger gene: LTBP4 was added
gene: LTBP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC 613177
Fetal anomalies v0.1 LTBP3 Rebecca Foulger gene: LTBP3 was added
gene: LTBP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Fetal anomalies v0.1 LTBP2 Rebecca Foulger gene: LTBP2 was added
gene: LTBP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA
Fetal anomalies v0.1 LRRC6 Rebecca Foulger gene: LRRC6 was added
gene: LRRC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA
Fetal anomalies v0.1 LRPPRC Rebecca Foulger gene: LRPPRC was added
gene: LRPPRC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE
Fetal anomalies v0.1 LRP5 Rebecca Foulger gene: LRP5 was added
gene: LRP5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT
Fetal anomalies v0.1 LRP4 Rebecca Foulger gene: LRP4 was added
gene: LRP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME
Fetal anomalies v0.1 LRP2 Rebecca Foulger gene: LRP2 was added
gene: LRP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to DONNAI-BARROW SYNDROME
Fetal anomalies v0.1 LRIT3 Rebecca Foulger gene: LRIT3 was added
gene: LRIT3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS
Fetal anomalies v0.1 LRIG2 Rebecca Foulger gene: LRIG2 was added
gene: LRIG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME
Fetal anomalies v0.1 LRBA Rebecca Foulger gene: LRBA was added
gene: LRBA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA
Fetal anomalies v0.1 LRAT Rebecca Foulger gene: LRAT was added
gene: LRAT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.1 LONP1 Rebecca Foulger gene: LONP1 was added
gene: LONP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS SYNDROME
Fetal anomalies v0.1 LMX1B Rebecca Foulger gene: LMX1B was added
gene: LMX1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME
Fetal anomalies v0.1 LMOD3 Rebecca Foulger gene: LMOD3 was added
gene: LMOD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 616165
Fetal anomalies v0.1 LMNA Rebecca Foulger gene: LMNA was added
gene: LMNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A
Fetal anomalies v0.1 LMBRD1 Rebecca Foulger gene: LMBRD1 was added
gene: LMBRD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF
Fetal anomalies v0.1 LMBR1 Rebecca Foulger gene: LMBR1 was added
gene: LMBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody 200500
Fetal anomalies v0.1 LIPT2 Rebecca Foulger gene: LIPT2 was added
gene: LIPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Fetal anomalies v0.1 LIPT1 Rebecca Foulger gene: LIPT1 was added
gene: LIPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Fetal anomalies v0.1 LIPN Rebecca Foulger gene: LIPN was added
gene: LIPN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4
Fetal anomalies v0.1 LINS1 Rebecca Foulger gene: LINS1 was added
gene: LINS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 LIG4 Rebecca Foulger gene: LIG4 was added
gene: LIG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 SYNDROME
Fetal anomalies v0.1 LIFR Rebecca Foulger gene: LIFR was added
gene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome
Fetal anomalies v0.1 LIAS Rebecca Foulger gene: LIAS was added
gene: LIAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Fetal anomalies v0.1 LHX4 Rebecca Foulger gene: LHX4 was added
gene: LHX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 LHX3 Rebecca Foulger gene: LHX3 was added
gene: LHX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3
Fetal anomalies v0.1 LGI4 Rebecca Foulger gene: LGI4 was added
gene: LGI4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA
Fetal anomalies v0.1 LFNG Rebecca Foulger gene: LFNG was added
gene: LFNG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3
Fetal anomalies v0.1 LEMD3 Rebecca Foulger gene: LEMD3 was added
gene: LEMD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME
Fetal anomalies v0.1 LDB3 Rebecca Foulger gene: LDB3 was added
gene: LDB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3
Fetal anomalies v0.1 LBR Rebecca Foulger gene: LBR was added
gene: LBR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
Fetal anomalies v0.1 LARS2 Rebecca Foulger gene: LARS2 was added
gene: LARS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME
Fetal anomalies v0.1 LARP7 Rebecca Foulger gene: LARP7 was added
gene: LARP7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME
Fetal anomalies v0.1 LARGE1 Rebecca Foulger gene: LARGE1 was added
gene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6
Fetal anomalies v0.1 LAMP2 Rebecca Foulger gene: LAMP2 was added
gene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: LAMP2 were set to DANON DISEASE
Fetal anomalies v0.1 LAMC3 Rebecca Foulger gene: LAMC3 was added
gene: LAMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS
Fetal anomalies v0.1 LAMC2 Rebecca Foulger gene: LAMC2 was added
gene: LAMC2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional 226700; Epidermolysis bullosa, junctional 226650
Fetal anomalies v0.1 LAMB3 Rebecca Foulger gene: LAMB3 was added
gene: LAMB3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226700; Epidermolysis bullosa, junctional 226650
Fetal anomalies v0.1 LAMB1 Rebecca Foulger gene: LAMB1 was added
gene: LAMB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES
Fetal anomalies v0.1 LAMA3 Rebecca Foulger gene: LAMA3 was added
gene: LAMA3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700
Fetal anomalies v0.1 LAMA2 Rebecca Foulger gene: LAMA2 was added
gene: LAMA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY
Fetal anomalies v0.1 LAMA1 Rebecca Foulger gene: LAMA1 was added
gene: LAMA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
Fetal anomalies v0.1 L2HGDH Rebecca Foulger gene: L2HGDH was added
gene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA
Fetal anomalies v0.1 L1CAM Rebecca Foulger gene: L1CAM was added
gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME
Fetal anomalies v0.1 KYNU Rebecca Foulger gene: KYNU was added
gene: KYNU was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Fetal anomalies v0.1 KRT74 Rebecca Foulger gene: KRT74 was added
gene: KRT74 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
Fetal anomalies v0.1 KRIT1 Rebecca Foulger gene: KRIT1 was added
gene: KRIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
Fetal anomalies v0.1 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.1 KPTN Rebecca Foulger gene: KPTN was added
gene: KPTN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
Fetal anomalies v0.1 KMT5B Rebecca Foulger gene: KMT5B was added
gene: KMT5B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT5B were set to KMT5B syndrome
Fetal anomalies v0.1 KMT2D Rebecca Foulger gene: KMT2D was added
gene: KMT2D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to KABUKI SYNDROME
Fetal anomalies v0.1 KMT2C Rebecca Foulger gene: KMT2C was added
gene: KMT2C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2C were set to 29276005
Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 KMT2B Rebecca Foulger gene: KMT2B was added
gene: KMT2B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2B were set to Complex early-onset dystonia
Fetal anomalies v0.1 KMT2A Rebecca Foulger gene: KMT2A was added
gene: KMT2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2A were set to WIEDEMANN-STEINER SYNDROME
Fetal anomalies v0.1 KLHL7 Rebecca Foulger gene: KLHL7 was added
gene: KLHL7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Fetal anomalies v0.1 KLHL41 Rebecca Foulger gene: KLHL41 was added
gene: KLHL41 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 615731
Fetal anomalies v0.1 KLHL40 Rebecca Foulger gene: KLHL40 was added
gene: KLHL40 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 KLF1 Rebecca Foulger gene: KLF1 was added
gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
Fetal anomalies v0.1 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIT were set to HUMAN PIEBALDISM
Fetal anomalies v0.1 KISS1R Rebecca Foulger gene: KISS1R was added
gene: KISS1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia 614837
Fetal anomalies v0.1 KIF7 Rebecca Foulger gene: KIF7 was added
gene: KIF7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to ACROCALLOSAL SYNDROME
Fetal anomalies v0.1 KIF5C Rebecca Foulger gene: KIF5C was added
gene: KIF5C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
Fetal anomalies v0.1 KIF2A Rebecca Foulger gene: KIF2A was added
gene: KIF2A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF2A were set to MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.
Fetal anomalies v0.1 KIF22 Rebecca Foulger gene: KIF22 was added
gene: KIF22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Fetal anomalies v0.1 KIF1BP Rebecca Foulger gene: KIF1BP was added
gene: KIF1BP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Fetal anomalies v0.1 KIF1A Rebecca Foulger gene: KIF1A was added
gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
Fetal anomalies v0.1 KIF11 Rebecca Foulger gene: KIF11 was added
gene: KIF11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY
Fetal anomalies v0.1 KIDINS220 Rebecca Foulger gene: KIDINS220 was added
gene: KIDINS220 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity.
Fetal anomalies v0.1 KIAA1109 Rebecca Foulger gene: KIAA1109 was added
gene: KIAA1109 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures
Fetal anomalies v0.1 KIAA0586 Rebecca Foulger gene: KIAA0586 was added
gene: KIAA0586 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME
Fetal anomalies v0.1 KDM6A Rebecca Foulger gene: KDM6A was added
gene: KDM6A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: KDM6A were set to KABUKI SYNDROME 2
Fetal anomalies v0.1 KDM5C Rebecca Foulger gene: KDM5C was added
gene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED
Fetal anomalies v0.1 KDM1A Rebecca Foulger gene: KDM1A was added
gene: KDM1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features
Fetal anomalies v0.1 KCTD7 Rebecca Foulger gene: KCTD7 was added
gene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS
Fetal anomalies v0.1 KCTD1 Rebecca Foulger gene: KCTD1 was added
gene: KCTD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME
Fetal anomalies v0.1 KCNT1 Rebecca Foulger gene: KCNT1 was added
gene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Fetal anomalies v0.1 KCNQ5 Rebecca Foulger gene: KCNQ5 was added
gene: KCNQ5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy
Fetal anomalies v0.1 KCNQ3 Rebecca Foulger gene: KCNQ3 was added
gene: KCNQ3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome
Fetal anomalies v0.1 KCNQ2 Rebecca Foulger gene: KCNQ2 was added
gene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1
Fetal anomalies v0.1 KCNQ1 Rebecca Foulger gene: KCNQ1 was added
gene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1
Fetal anomalies v0.1 KCNJ6 Rebecca Foulger gene: KCNJ6 was added
gene: KCNJ6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME
Fetal anomalies v0.1 KCNJ2 Rebecca Foulger gene: KCNJ2 was added
gene: KCNJ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNJ2 were set to Andersen syndrome 170390
Fetal anomalies v0.1 KCNJ11 Rebecca Foulger gene: KCNJ11 was added
gene: KCNJ11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM
Fetal anomalies v0.1 KCNJ10 Rebecca Foulger gene: KCNJ10 was added
gene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE
Fetal anomalies v0.1 KCNJ1 Rebecca Foulger gene: KCNJ1 was added
gene: KCNJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome 241200
Fetal anomalies v0.1 KCNH1 Rebecca Foulger gene: KCNH1 was added
gene: KCNH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME
Fetal anomalies v0.1 KCNE1 Rebecca Foulger gene: KCNE1 was added
gene: KCNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2
Fetal anomalies v0.1 KCNC3 Rebecca Foulger gene: KCNC3 was added
gene: KCNC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13
Fetal anomalies v0.1 KCNC1 Rebecca Foulger gene: KCNC1 was added
gene: KCNC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7
Fetal anomalies v0.1 KCNB1 Rebecca Foulger gene: KCNB1 was added
gene: KCNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
Fetal anomalies v0.1 KCNA2 Rebecca Foulger gene: KCNA2 was added
gene: KCNA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.1 KBTBD13 Rebecca Foulger gene: KBTBD13 was added
gene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6
Fetal anomalies v0.1 KAT6B Rebecca Foulger gene: KAT6B was added
gene: KAT6B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
Fetal anomalies v0.1 KAT6A Rebecca Foulger gene: KAT6A was added
gene: KAT6A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Fetal anomalies v0.1 KARS Rebecca Foulger gene: KARS was added
gene: KARS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
Fetal anomalies v0.1 KANSL1 Rebecca Foulger gene: KANSL1 was added
gene: KANSL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Fetal anomalies v0.1 JAM3 Rebecca Foulger gene: JAM3 was added
gene: JAM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
Fetal anomalies v0.1 JAK3 Rebecca Foulger gene: JAK3 was added
gene: JAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED
Fetal anomalies v0.1 JAGN1 Rebecca Foulger gene: JAGN1 was added
gene: JAGN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA
Fetal anomalies v0.1 JAG1 Rebecca Foulger gene: JAG1 was added
gene: JAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME
Fetal anomalies v0.1 IVD Rebecca Foulger gene: IVD was added
gene: IVD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA
Fetal anomalies v0.1 ITPR1 Rebecca Foulger gene: ITPR1 was added
gene: ITPR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15
Fetal anomalies v0.1 ITGB4 Rebecca Foulger gene: ITGB4 was added
gene: ITGB4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.1 ITGA8 Rebecca Foulger gene: ITGA8 was added
gene: ITGA8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1
Fetal anomalies v0.1 ITGA7 Rebecca Foulger gene: ITGA7 was added
gene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY
Fetal anomalies v0.1 ITGA6 Rebecca Foulger gene: ITGA6 was added
gene: ITGA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.1 ITGA3 Rebecca Foulger gene: ITGA3 was added
gene: ITGA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Fetal anomalies v0.1 ITCH Rebecca Foulger gene: ITCH was added
gene: ITCH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
Fetal anomalies v0.1 ISPD Rebecca Foulger gene: ISPD was added
gene: ISPD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME
Fetal anomalies v0.1 IRX5 Rebecca Foulger gene: IRX5 was added
gene: IRX5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Fetal anomalies v0.1 IRF6 Rebecca Foulger gene: IRF6 was added
gene: IRF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME
Fetal anomalies v0.1 IQSEC2 Rebecca Foulger gene: IQSEC2 was added
gene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1
Fetal anomalies v0.1 IQCB1 Rebecca Foulger gene: IQCB1 was added
gene: IQCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 609254
Fetal anomalies v0.1 INVS Rebecca Foulger gene: INVS was added
gene: INVS was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2 602088
Fetal anomalies v0.1 INSR Rebecca Foulger gene: INSR was added
gene: INSR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549
Fetal anomalies v0.1 INPPL1 Rebecca Foulger gene: INPPL1 was added
gene: INPPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA
Fetal anomalies v0.1 INPP5K Rebecca Foulger gene: INPP5K was added
gene: INPP5K was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability
Fetal anomalies v0.1 INPP5E Rebecca Foulger gene: INPP5E was added
gene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS
Fetal anomalies v0.1 IMPAD1 Rebecca Foulger gene: IMPAD1 was added
gene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE
Fetal anomalies v0.1 IL1RAPL1 Rebecca Foulger gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21
Fetal anomalies v0.1 IL17RD Rebecca Foulger gene: IL17RD was added
gene: IL17RD was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: IL17RD was set to Unknown
Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267
Fetal anomalies v0.1 IL11RA Rebecca Foulger gene: IL11RA was added
gene: IL11RA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis
Fetal anomalies v0.1 IKBKG Rebecca Foulger gene: IKBKG was added
gene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
Fetal anomalies v0.1 IHH Rebecca Foulger gene: IHH was added
gene: IHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1
Fetal anomalies v0.1 IGSF1 Rebecca Foulger gene: IGSF1 was added
gene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT
Fetal anomalies v0.1 IGHMBP2 Rebecca Foulger gene: IGHMBP2 was added
gene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Fetal anomalies v0.1 IGFBP7 Rebecca Foulger gene: IGFBP7 was added
gene: IGFBP7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
Fetal anomalies v0.1 IGF2 Rebecca Foulger gene: IGF2 was added
gene: IGF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME
Fetal anomalies v0.1 IGF1R Rebecca Foulger gene: IGF1R was added
gene: IGF1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
Fetal anomalies v0.1 IGF1 Rebecca Foulger gene: IGF1 was added
gene: IGF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
Fetal anomalies v0.1 IFT80 Rebecca Foulger gene: IFT80 was added
gene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.1 IFT43 Rebecca Foulger gene: IFT43 was added
gene: IFT43 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3
Fetal anomalies v0.1 IFT172 Rebecca Foulger gene: IFT172 was added
gene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to MAINZER-SALDINO SYNDROME
Fetal anomalies v0.1 IFT140 Rebecca Foulger gene: IFT140 was added
gene: IFT140 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME
Fetal anomalies v0.1 IFT122 Rebecca Foulger gene: IFT122 was added
gene: IFT122 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA
Fetal anomalies v0.1 IFITM5 Rebecca Foulger gene: IFITM5 was added
gene: IFITM5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V
Fetal anomalies v0.1 IFIH1 Rebecca Foulger gene: IFIH1 was added
gene: IFIH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7
Fetal anomalies v0.1 IER3IP1 Rebecca Foulger gene: IER3IP1 was added
gene: IER3IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231
Fetal anomalies v0.1 IDUA Rebecca Foulger gene: IDUA was added
gene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S
Fetal anomalies v0.1 IDS Rebecca Foulger gene: IDS was added
gene: IDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2
Fetal anomalies v0.1 IARS Rebecca Foulger gene: IARS was added
gene: IARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Fetal anomalies v0.1 HYLS1 Rebecca Foulger gene: HYLS1 was added
gene: HYLS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1
Fetal anomalies v0.1 HYDIN Rebecca Foulger gene: HYDIN was added
gene: HYDIN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5
Fetal anomalies v0.1 HYAL1 Rebecca Foulger gene: HYAL1 was added
gene: HYAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9
Fetal anomalies v0.1 HUWE1 Rebecca Foulger gene: HUWE1 was added
gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Fetal anomalies v0.1 HSPG2 Rebecca Foulger gene: HSPG2 was added
gene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME
Fetal anomalies v0.1 HSPD1 Rebecca Foulger gene: HSPD1 was added
gene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Fetal anomalies v0.1 HSF4 Rebecca Foulger gene: HSF4 was added
gene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE
Fetal anomalies v0.1 HSD3B7 Rebecca Foulger gene: HSD3B7 was added
gene: HSD3B7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
Fetal anomalies v0.1 HSD17B4 Rebecca Foulger gene: HSD17B4 was added
gene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME
Fetal anomalies v0.1 HSD17B3 Rebecca Foulger gene: HSD17B3 was added
gene: HSD17B3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia 264300
Fetal anomalies v0.1 HSD17B10 Rebecca Foulger gene: HSD17B10 was added
gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HRAS were set to COSTELLO SYNDROME
Fetal anomalies v0.1 HR Rebecca Foulger gene: HR was added
gene: HR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS
Fetal anomalies v0.1 HPSE2 Rebecca Foulger gene: HPSE2 was added
gene: HPSE2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME
Fetal anomalies v0.1 HPS1 Rebecca Foulger gene: HPS1 was added
gene: HPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME
Fetal anomalies v0.1 HPRT1 Rebecca Foulger gene: HPRT1 was added
gene: HPRT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to GOUT HPRT-RELATED
Fetal anomalies v0.1 HPGD Rebecca Foulger gene: HPGD was added
gene: HPGD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY
Fetal anomalies v0.1 HPD Rebecca Foulger gene: HPD was added
gene: HPD was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to HAWKINSINURIA
Fetal anomalies v0.1 HOXD13 Rebecca Foulger gene: HOXD13 was added
gene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION
Fetal anomalies v0.1 HOXC13 Rebecca Foulger gene: HOXC13 was added
gene: HOXC13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA
Fetal anomalies v0.1 HOXB1 Rebecca Foulger gene: HOXB1 was added
gene: HOXB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Fetal anomalies v0.1 HOXA13 Rebecca Foulger gene: HOXA13 was added
gene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME
Fetal anomalies v0.1 HOXA1 Rebecca Foulger gene: HOXA1 was added
gene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME
Fetal anomalies v0.1 HNRNPU Rebecca Foulger gene: HNRNPU was added
gene: HNRNPU was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 HNRNPH2 Rebecca Foulger gene: HNRNPH2 was added
gene: HNRNPH2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females
Fetal anomalies v0.1 HNF4A Rebecca Foulger gene: HNF4A was added
gene: HNF4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1
Fetal anomalies v0.1 HNF1B Rebecca Foulger gene: HNF1B was added
gene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME
Fetal anomalies v0.1 HMX1 Rebecca Foulger gene: HMX1 was added
gene: HMX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME
Fetal anomalies v0.1 HMGCS2 Rebecca Foulger gene: HMGCS2 was added
gene: HMGCS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
Fetal anomalies v0.1 HMGCL Rebecca Foulger gene: HMGCL was added
gene: HMGCL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY
Fetal anomalies v0.1 HLCS Rebecca Foulger gene: HLCS was added
gene: HLCS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Fetal anomalies v0.1 HIVEP2 Rebecca Foulger gene: HIVEP2 was added
gene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability
Fetal anomalies v0.1 HIST1H4C Rebecca Foulger gene: HIST1H4C was added
gene: HIST1H4C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H4C were set to HIST1H4C
Fetal anomalies v0.1 HIST1H1E Rebecca Foulger gene: HIST1H1E was added
gene: HIST1H1E was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H1E were set to Childhood overgrowth
Fetal anomalies v0.1 HINT1 Rebecca Foulger gene: HINT1 was added
gene: HINT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 HIBCH Rebecca Foulger gene: HIBCH was added
gene: HIBCH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY
Fetal anomalies v0.1 HGSNAT Rebecca Foulger gene: HGSNAT was added
gene: HGSNAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C
Fetal anomalies v0.1 HEXB Rebecca Foulger gene: HEXB was added
gene: HEXB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2
Fetal anomalies v0.1 HEXA Rebecca Foulger gene: HEXA was added
gene: HEXA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1
Fetal anomalies v0.1 HESX1 Rebecca Foulger gene: HESX1 was added
gene: HESX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to SEPTOOPTIC DYSPLASIA
Fetal anomalies v0.1 HES7 Rebecca Foulger gene: HES7 was added
gene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Fetal anomalies v0.1 HECW2 Rebecca Foulger gene: HECW2 was added
gene: HECW2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HECW2 were set to HECW2
Fetal anomalies v0.1 HDAC8 Rebecca Foulger gene: HDAC8 was added
gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.1 HDAC4 Rebecca Foulger gene: HDAC4 was added
gene: HDAC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 HCN1 Rebecca Foulger gene: HCN1 was added
gene: HCN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
Fetal anomalies v0.1 HCFC1 Rebecca Foulger gene: HCFC1 was added
gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3
Fetal anomalies v0.1 HCCS Rebecca Foulger gene: HCCS was added
gene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7
Fetal anomalies v0.1 HAX1 Rebecca Foulger gene: HAX1 was added
gene: HAX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 HADHA Rebecca Foulger gene: HADHA was added
gene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 HADH Rebecca Foulger gene: HADH was added
gene: HADH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 HACE1 Rebecca Foulger gene: HACE1 was added
gene: HACE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to HACE1 related disorder
Fetal anomalies v0.1 HAAO Rebecca Foulger gene: HAAO was added
gene: HAAO was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Fetal anomalies v0.1 H3F3A Rebecca Foulger gene: H3F3A was added
gene: H3F3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders
Fetal anomalies v0.1 H19 Rebecca Foulger gene: H19 was added
gene: H19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650
Fetal anomalies v0.1 GZF1 Rebecca Foulger gene: GZF1 was added
gene: GZF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GZF1 were set to LARSEN SYNDROME
Fetal anomalies v0.1 GUSB Rebecca Foulger gene: GUSB was added
gene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7
Fetal anomalies v0.1 GUCY2C Rebecca Foulger gene: GUCY2C was added
gene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS
Fetal anomalies v0.1 GTPBP3 Rebecca Foulger gene: GTPBP3 was added
gene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Fetal anomalies v0.1 GTF2H5 Rebecca Foulger gene: GTF2H5 was added
gene: GTF2H5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Fetal anomalies v0.1 GTF2E2 Rebecca Foulger gene: GTF2E2 was added
gene: GTF2E2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy
Fetal anomalies v0.1 GSPT2 Rebecca Foulger gene: GSPT2 was added
gene: GSPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY
Fetal anomalies v0.1 GRM6 Rebecca Foulger gene: GRM6 was added
gene: GRM6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
Fetal anomalies v0.1 GRM1 Rebecca Foulger gene: GRM1 was added
gene: GRM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA
Fetal anomalies v0.1 GRIP1 Rebecca Foulger gene: GRIP1 was added
gene: GRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000
Fetal anomalies v0.1 GRIN2D Rebecca Foulger gene: GRIN2D was added
gene: GRIN2D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Fetal anomalies v0.1 GRIN2B Rebecca Foulger gene: GRIN2B was added
gene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2B were set to AUTISM
Fetal anomalies v0.1 GRIN2A Rebecca Foulger gene: GRIN2A was added
gene: GRIN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
Fetal anomalies v0.1 GRIN1 Rebecca Foulger gene: GRIN1 was added
gene: GRIN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 GRIK2 Rebecca Foulger gene: GRIK2 was added
gene: GRIK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6
Fetal anomalies v0.1 GRIA3 Rebecca Foulger gene: GRIA3 was added
gene: GRIA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94
Fetal anomalies v0.1 GRHL3 Rebecca Foulger gene: GRHL3 was added
gene: GRHL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME
Fetal anomalies v0.1 GRHL2 Rebecca Foulger gene: GRHL2 was added
gene: GRHL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Fetal anomalies v0.1 GPX4 Rebecca Foulger gene: GPX4 was added
gene: GPX4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Fetal anomalies v0.1 GPSM2 Rebecca Foulger gene: GPSM2 was added
gene: GPSM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME
Fetal anomalies v0.1 GPKOW Rebecca Foulger gene: GPKOW was added
gene: GPKOW was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPKOW were set to 28612833
Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction
Fetal anomalies v0.1 GPI Rebecca Foulger gene: GPI was added
gene: GPI was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470
Fetal anomalies v0.1 GPC6 Rebecca Foulger gene: GPC6 was added
gene: GPC6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to OMODYSPLASIA TYPE 1 (OMOD1) [
Fetal anomalies v0.1 GPC3 Rebecca Foulger gene: GPC3 was added
gene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Fetal anomalies v0.1 GPAA1 Rebecca Foulger gene: GPAA1 was added
gene: GPAA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Fetal anomalies v0.1 GORAB Rebecca Foulger gene: GORAB was added
gene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum
Fetal anomalies v0.1 GNS Rebecca Foulger gene: GNS was added
gene: GNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D
Fetal anomalies v0.1 GNPTG Rebecca Foulger gene: GNPTG was added
gene: GNPTG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
Fetal anomalies v0.1 GNPTAB Rebecca Foulger gene: GNPTAB was added
gene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE II
Fetal anomalies v0.1 GNPAT Rebecca Foulger gene: GNPAT was added
gene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Fetal anomalies v0.1 GNB5 Rebecca Foulger gene: GNB5 was added
gene: GNB5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability
Fetal anomalies v0.1 GNB1 Rebecca Foulger gene: GNB1 was added
gene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Fetal anomalies v0.1 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B
Fetal anomalies v0.1 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAQ were set to Congenital Hemangioma
Fetal anomalies v0.1 GNAO1 Rebecca Foulger gene: GNAO1 was added
gene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 GNAI3 Rebecca Foulger gene: GNAI3 was added
gene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.1 GNAI1 Rebecca Foulger gene: GNAI1 was added
gene: GNAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI1 were set to GNAI1 syndrome
Fetal anomalies v0.1 GNA14 Rebecca Foulger gene: GNA14 was added
gene: GNA14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNA14 were set to Congenital vascular tumours
Fetal anomalies v0.1 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNA11 were set to Congenital Hemangioma
Fetal anomalies v0.1 GMPPB Rebecca Foulger gene: GMPPB was added
gene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Fetal anomalies v0.1 GMPPA Rebecca Foulger gene: GMPPA was added
gene: GMPPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
Fetal anomalies v0.1 GMNN Rebecca Foulger gene: GMNN was added
gene: GMNN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Fetal anomalies v0.1 GM2A Rebecca Foulger gene: GM2A was added
gene: GM2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB
Fetal anomalies v0.1 GLUL Rebecca Foulger gene: GLUL was added
gene: GLUL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Fetal anomalies v0.1 GLUD1 Rebecca Foulger gene: GLUD1 was added
gene: GLUD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Fetal anomalies v0.1 GLMN Rebecca Foulger gene: GLMN was added
gene: GLMN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS
Fetal anomalies v0.1 GLIS3 Rebecca Foulger gene: GLIS3 was added
gene: GLIS3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
Fetal anomalies v0.1 GLIS2 Rebecca Foulger gene: GLIS2 was added
gene: GLIS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7
Fetal anomalies v0.1 GLI3 Rebecca Foulger gene: GLI3 was added
gene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
Fetal anomalies v0.1 GLI2 Rebecca Foulger gene: GLI2 was added
gene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY
Fetal anomalies v0.1 GLE1 Rebecca Foulger gene: GLE1 was added
gene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Fetal anomalies v0.1 GLDN Rebecca Foulger gene: GLDN was added
gene: GLDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal arthroogryposis
Fetal anomalies v0.1 GLDC Rebecca Foulger gene: GLDC was added
gene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY
Fetal anomalies v0.1 GLB1 Rebecca Foulger gene: GLB1 was added
gene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B
Fetal anomalies v0.1 GK Rebecca Foulger gene: GK was added
gene: GK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY
Fetal anomalies v0.1 GJC2 Rebecca Foulger gene: GJC2 was added
gene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC
Fetal anomalies v0.1 GJB2 Rebecca Foulger gene: GJB2 was added
gene: GJB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A
Fetal anomalies v0.1 GJA8 Rebecca Foulger gene: GJA8 was added
gene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1
Fetal anomalies v0.1 GJA3 Rebecca Foulger gene: GJA3 was added
gene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Fetal anomalies v0.1 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME
Fetal anomalies v0.1 GHR Rebecca Foulger gene: GHR was added
gene: GHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to PITUITARY DWARFISM II
Fetal anomalies v0.1 GFM1 Rebecca Foulger gene: GFM1 was added
gene: GFM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
Fetal anomalies v0.1 GFAP Rebecca Foulger gene: GFAP was added
gene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to ALEXANDER DISEASE
Fetal anomalies v0.1 GDI1 Rebecca Foulger gene: GDI1 was added
gene: GDI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41
Fetal anomalies v0.1 GDF6 Rebecca Foulger gene: GDF6 was added
gene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1
Fetal anomalies v0.1 GDF5 Rebecca Foulger gene: GDF5 was added
gene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE
Fetal anomalies v0.1 GCH1 Rebecca Foulger gene: GCH1 was added
gene: GCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY
Fetal anomalies v0.1 GCDH Rebecca Foulger gene: GCDH was added
gene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1
Fetal anomalies v0.1 GBE1 Rebecca Foulger gene: GBE1 was added
gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV
Fetal anomalies v0.1 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Fetal anomalies v0.1 GBA Rebecca Foulger gene: GBA was added
gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1
Fetal anomalies v0.1 GATM Rebecca Foulger gene: GATM was added
gene: GATM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 GATAD2B Rebecca Foulger gene: GATAD2B was added
gene: GATAD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID
Fetal anomalies v0.1 GATA6 Rebecca Foulger gene: GATA6 was added
gene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5
Fetal anomalies v0.1 GATA4 Rebecca Foulger gene: GATA4 was added
gene: GATA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2
Fetal anomalies v0.1 GATA2 Rebecca Foulger gene: GATA2 was added
gene: GATA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME
Fetal anomalies v0.1 GAS8 Rebecca Foulger gene: GAS8 was added
gene: GAS8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.1 GAMT Rebecca Foulger gene: GAMT was added
gene: GAMT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 GALT Rebecca Foulger gene: GALT was added
gene: GALT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to GALACTOSEMIA
Fetal anomalies v0.1 GALNS Rebecca Foulger gene: GALNS was added
gene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A
Fetal anomalies v0.1 GALK1 Rebecca Foulger gene: GALK1 was added
gene: GALK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to GALACTOSEMIA II
Fetal anomalies v0.1 GALE Rebecca Foulger gene: GALE was added
gene: GALE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA
Fetal anomalies v0.1 GALC Rebecca Foulger gene: GALC was added
gene: GALC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to KRABBE DISEASE
Fetal anomalies v0.1 GABRG2 Rebecca Foulger gene: GABRG2 was added
gene: GABRG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRG2 were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
Fetal anomalies v0.1 GABRB3 Rebecca Foulger gene: GABRB3 was added
gene: GABRB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5
Fetal anomalies v0.1 GABRB2 Rebecca Foulger gene: GABRB2 was added
gene: GABRB2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 GABRA1 Rebecca Foulger gene: GABRA1 was added
gene: GABRA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY
Fetal anomalies v0.1 GAA Rebecca Foulger gene: GAA was added
gene: GAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II
Fetal anomalies v0.1 G6PC3 Rebecca Foulger gene: G6PC3 was added
gene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome
Fetal anomalies v0.1 FZD6 Rebecca Foulger gene: FZD6 was added
gene: FZD6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10
Fetal anomalies v0.1 FZD5 Rebecca Foulger gene: FZD5 was added
gene: FZD5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma
Fetal anomalies v0.1 FYCO1 Rebecca Foulger gene: FYCO1 was added
gene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Fetal anomalies v0.1 FUZ Rebecca Foulger gene: FUZ was added
gene: FUZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FUZ was set to Unknown
Phenotypes for gene: FUZ were set to Neural tube defects 182940
Fetal anomalies v0.1 FUCA1 Rebecca Foulger gene: FUCA1 was added
gene: FUCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS
Fetal anomalies v0.1 FTSJ1 Rebecca Foulger gene: FTSJ1 was added
gene: FTSJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44
Fetal anomalies v0.1 FTL Rebecca Foulger gene: FTL was added
gene: FTL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Fetal anomalies v0.1 FTCD Rebecca Foulger gene: FTCD was added
gene: FTCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 FRRS1L Rebecca Foulger gene: FRRS1L was added
gene: FRRS1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep
Fetal anomalies v0.1 FRMPD4 Rebecca Foulger gene: FRMPD4 was added
gene: FRMPD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FRMPD4 were set to Intellectual Disability
Fetal anomalies v0.1 FRMD7 Rebecca Foulger gene: FRMD7 was added
gene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED
Fetal anomalies v0.1 FREM2 Rebecca Foulger gene: FREM2 was added
gene: FREM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to FRASER SYNDROME
Fetal anomalies v0.1 FREM1 Rebecca Foulger gene: FREM1 was added
gene: FREM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME
Fetal anomalies v0.1 FRAS1 Rebecca Foulger gene: FRAS1 was added
gene: FRAS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to FRASER SYNDROME
Fetal anomalies v0.1 FOXRED1 Rebecca Foulger gene: FOXRED1 was added
gene: FOXRED1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.1 FOXP3 Rebecca Foulger gene: FOXP3 was added
gene: FOXP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to IPEX SYNDROME
Fetal anomalies v0.1 FOXP2 Rebecca Foulger gene: FOXP2 was added
gene: FOXP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1
Fetal anomalies v0.1 FOXP1 Rebecca Foulger gene: FOXP1 was added
gene: FOXP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
Fetal anomalies v0.1 FOXN1 Rebecca Foulger gene: FOXN1 was added
gene: FOXN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY
Fetal anomalies v0.1 FOXL2 Rebecca Foulger gene: FOXL2 was added
gene: FOXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME
Fetal anomalies v0.1 FOXG1 Rebecca Foulger gene: FOXG1 was added
gene: FOXG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME
Fetal anomalies v0.1 FOXF1 Rebecca Foulger gene: FOXF1 was added
gene: FOXF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
Fetal anomalies v0.1 FOXE3 Rebecca Foulger gene: FOXE3 was added
gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA
Fetal anomalies v0.1 FOXE1 Rebecca Foulger gene: FOXE1 was added
gene: FOXE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME
Fetal anomalies v0.1 FOXC2 Rebecca Foulger gene: FOXC2 was added
gene: FOXC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME
Fetal anomalies v0.1 FOXC1 Rebecca Foulger gene: FOXC1 was added
gene: FOXC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3
Fetal anomalies v0.1 FOLR1 Rebecca Foulger gene: FOLR1 was added
gene: FOLR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Fetal anomalies v0.1 FN1 Rebecca Foulger gene: FN1 was added
gene: FN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures
Fetal anomalies v0.1 FMR1 Rebecca Foulger gene: FMR1 was added
gene: FMR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME
Fetal anomalies v0.1 FMN2 Rebecca Foulger gene: FMN2 was added
gene: FMN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
Fetal anomalies v0.1 FLVCR2 Rebecca Foulger gene: FLVCR2 was added
gene: FLVCR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Fetal anomalies v0.1 FLVCR1 Rebecca Foulger gene: FLVCR1 was added
gene: FLVCR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
Fetal anomalies v0.1 FLT4 Rebecca Foulger gene: FLT4 was added
gene: FLT4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FLT4 were set to MILROY DISEASE
Fetal anomalies v0.1 FLRT3 Rebecca Foulger gene: FLRT3 was added
gene: FLRT3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FLRT3 was set to Unknown
Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271
Fetal anomalies v0.1 FLNB Rebecca Foulger gene: FLNB was added
gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
Fetal anomalies v0.1 FLNA Rebecca Foulger gene: FLNA was added
gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1
Fetal anomalies v0.1 FLAD1 Rebecca Foulger gene: FLAD1 was added
gene: FLAD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Fetal anomalies v0.1 FKTN Rebecca Foulger gene: FKTN was added
gene: FKTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4
Fetal anomalies v0.1 FKRP Rebecca Foulger gene: FKRP was added
gene: FKRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5
Fetal anomalies v0.1 FKBP14 Rebecca Foulger gene: FKBP14 was added
gene: FKBP14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Fetal anomalies v0.1 FIG4 Rebecca Foulger gene: FIG4 was added
gene: FIG4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
Fetal anomalies v0.1 FHL1 Rebecca Foulger gene: FHL1 was added
gene: FHL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
Fetal anomalies v0.1 FH Rebecca Foulger gene: FH was added
gene: FH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to FUMARASE DEFICIENCY
Fetal anomalies v0.1 FGFR3 Rebecca Foulger gene: FGFR3 was added
gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
Fetal anomalies v0.1 FGFR2 Rebecca Foulger gene: FGFR2 was added
gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME
Fetal anomalies v0.1 FGFR1 Rebecca Foulger gene: FGFR1 was added
gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to OSTEOGLOPHONIC DYSPLASIA
Fetal anomalies v0.1 FGF9 Rebecca Foulger gene: FGF9 was added
gene: FGF9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3
Fetal anomalies v0.1 FGF8 Rebecca Foulger gene: FGF8 was added
gene: FGF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702
Fetal anomalies v0.1 FGF3 Rebecca Foulger gene: FGF3 was added
gene: FGF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA
Fetal anomalies v0.1 FGF17 Rebecca Foulger gene: FGF17 was added
gene: FGF17 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FGF17 was set to Unknown
Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270
Fetal anomalies v0.1 FGF12 Rebecca Foulger gene: FGF12 was added
gene: FGF12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 FGF10 Rebecca Foulger gene: FGF10 was added
gene: FGF10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF10 were set to LADD SYNDROME
Fetal anomalies v0.1 FGD4 Rebecca Foulger gene: FGD4 was added
gene: FGD4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease 609311
Fetal anomalies v0.1 FGD1 Rebecca Foulger gene: FGD1 was added
gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME
Fetal anomalies v0.1 FEZF1 Rebecca Foulger gene: FEZF1 was added
gene: FEZF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA
Fetal anomalies v0.1 FBXL4 Rebecca Foulger gene: FBXL4 was added
gene: FBXL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Fetal anomalies v0.1 FBP1 Rebecca Foulger gene: FBP1 was added
gene: FBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY
Fetal anomalies v0.1 FBN2 Rebecca Foulger gene: FBN2 was added
gene: FBN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY
Fetal anomalies v0.1 FBN1 Rebecca Foulger gene: FBN1 was added
gene: FBN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FBN1 were set to MARFAN SYNDROME
Fetal anomalies v0.1 FBLN5 Rebecca Foulger gene: FBLN5 was added
gene: FBLN5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa 614434; Cutis laxa 219100
Fetal anomalies v0.1 FAT4 Rebecca Foulger gene: FAT4 was added
gene: FAT4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.1 FAR1 Rebecca Foulger gene: FAR1 was added
gene: FAR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Fetal anomalies v0.1 FANCM Rebecca Foulger gene: FANCM was added
gene: FANCM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCM were set to FANCONI ANEMIA
Fetal anomalies v0.1 FANCL Rebecca Foulger gene: FANCL was added
gene: FANCL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to FANCL-RELATED FANCONI ANEMIA
Fetal anomalies v0.1 FANCI Rebecca Foulger gene: FANCI was added
gene: FANCI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA
Fetal anomalies v0.1 FANCG Rebecca Foulger gene: FANCG was added
gene: FANCG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G
Fetal anomalies v0.1 FANCF Rebecca Foulger gene: FANCF was added
gene: FANCF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F
Fetal anomalies v0.1 FANCE Rebecca Foulger gene: FANCE was added
gene: FANCE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E
Fetal anomalies v0.1 FANCD2 Rebecca Foulger gene: FANCD2 was added
gene: FANCD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2