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Fetal anomalies v6.198 FAM177A1 Ida Ertmanska Phenotypes for gene: FAM177A1 were changed from Neurodevelopmental disorder with white matter abnormalities and gait disturbance to Neurodevelopmental disorder with white matter abnormalities and gait disturbance, OMIM:621152
Fetal anomalies v6.197 C16orf62 Ida Ertmanska Tag gene-checked tag was added to gene: C16orf62.
Fetal anomalies v6.197 TMEM17 Ida Ertmanska Tag gene-checked tag was added to gene: TMEM17.
Fetal anomalies v6.197 GINS3 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype added 1st May 2026.
Fetal anomalies v6.197 GINS3 Ida Ertmanska Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome; Meier-Gorlin syndrome 9, OMIM:621512
Fetal anomalies v6.196 GINS3 Ida Ertmanska Tag gene-checked was removed from gene: GINS3.
Fetal anomalies v6.196 ITCH Achchuthan Shanmugasundram changed review comment from: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).; to: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

This gene has been associated with 'Autoimmune disease, multisystem, with facial dysmorphism' phenotype (MIM #613385) in OMIM (last accessed 29 April 2026).

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).
Fetal anomalies v6.196 ITCH Achchuthan Shanmugasundram Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 to Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385; syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Fetal anomalies v6.195 ITCH Achchuthan Shanmugasundram Publications for gene: ITCH were set to 20170897; 31091003
Fetal anomalies v6.194 ITCH Achchuthan Shanmugasundram edited their review of gene: ITCH: Added comment: As reviewed by Ludmila Volozonoka, the single patient from PMID:36338154 is the only reported case presenting prenatally with intrauterine growth retardation. Hence, this gene can only be rated red on Fetal anomalies panel. This gene is rated with red rating on the fetal panel from PanelApp Australia.

This gene has already been rated green or proposed for green rating on panels relevant for this multi-system phenotype such as R15 Primary immunodeficiency or monogenic inflammatory bowel disease, R413 Autoinflammatory disorders and R27 Paediatric disorders (via DDG2P panel).; Changed rating: RED; Changed publications to: 36338154; Changed phenotypes to: Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385, syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.194 SMN1 Eleanor Williams commented on gene: SMN1: Added the Q2_26_demote_red and currently-ngs-nonreportable tags due to limitations in reporting SNVs in this gene. It needs to be confirmed whether variants in this gene can be reported in this test by the labs.
Fetal anomalies v6.194 SMN1 Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: SMN1.
Tag Q2_26_demote_red tag was added to gene: SMN1.
Tag Q2_26_expert_review tag was added to gene: SMN1.
Fetal anomalies v6.194 SKOR2 Eleanor Williams Phenotypes for gene: SKOR2 were changed from Cerebellar hypoplasia, neurodevelopmental delay to Cerebellar hypoplasia, neurodevelopmental delay; Valence-Farazi cerebellar ataxia syndrome, OMIM: 621386; Valence-Farazi cerebellar ataxia syndrome, MONDO:0980707
Fetal anomalies v6.193 SNAPIN Eleanor Williams Phenotypes for gene: SNAPIN were changed from neurodevelopmental disorder; Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393 to neurodevelopmental disorder; Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393; neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MONDO:0980710
Fetal anomalies v6.192 WSB2 Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552 neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552; neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.191 WSB2 Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Luo-Agrawal neurodevelopmental syndrome, OMIM:621552 neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.190 UGGT1 Ida Ertmanska Added comment: Comment on phenotypes: Phenotype updated 22nd Apr 2026.
Fetal anomalies v6.190 UGGT1 Ida Ertmanska Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IICC, OMIM:621381; congenital disorder of glycosylation, type IIcc, MONDO:0980705
Fetal anomalies v6.189 SNAPIN Ida Ertmanska Tag Q1_26_promote_green was removed from gene: SNAPIN.
Fetal anomalies v6.189 GNAS Eleanor Williams commented on gene: GNAS
Fetal anomalies v6.189 WDHD1 Achchuthan Shanmugasundram Classified gene: WDHD1 as Amber List (moderate evidence)
Fetal anomalies v6.189 WDHD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Foetal abnormalities were reported in 14 unrelated families with biallelic WDHD1 variants. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.189 WDHD1 Achchuthan Shanmugasundram Gene: wdhd1 has been classified as Amber List (Moderate Evidence).
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 v6.187 TRAF3IP1 Ida Ertmanska commented on gene: TRAF3IP1
Fetal anomalies v6.187 TRAF3IP1 Ida Ertmanska Tag new-gene-name tag was added to gene: TRAF3IP1.
Fetal anomalies v6.187 GTF3C3 Eleanor Williams Phenotypes for gene: GTF3C3 were changed from Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 to Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MONDO:0978301
Fetal anomalies v6.186 PTBP1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 10th Apr 2026.
Fetal anomalies v6.186 PTBP1 Ida Ertmanska Phenotypes for gene: PTBP1 were changed from neurodevelopmental disorder with skeletal dysplasia; Neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder with skeletal dysplasia; Neurodevelopmental disorder, MONDO:0700092; STAD syndrome, OMIM:621495
Fetal anomalies v6.185 MPDU1 Arina Puzriakova Phenotypes for gene: MPDU1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type If, OMIM:609180
Fetal anomalies v6.184 FGFR1 Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are more than 3 individuals reported with biallelic FGFR1 variants and Hypogonadotropic hypogonadism. Individuals consistently presented with ectrodactyly, CC agenesis, and holoprosencephaly - disease features relevant to Fetal anomalies, as these would be detected on a prenatal scan. Hence, MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update.
Fetal anomalies v6.184 FGFR1 Ida Ertmanska Phenotypes for gene: FGFR1 were changed from IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; OSTEOGLOPHONIC DYSPLASIA; PFEIFFER SYNDROME; KALLMANN SYNDROME TYPE 2; Hartsfield syndrome; Encephalocraniocutaneous lipomatosis to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465
Fetal anomalies v6.183 FGFR1 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1.
Fetal anomalies v6.183 FGFR1 Ida Ertmanska changed review comment from: PMID: 27055092 Mazen et al., 2016
Male patient with congenital heart disease (CHD) and ambiguous genitalia, referred at 15 months. Consanguineous parents, positive family history for CHD. Trio WES revealed a homozygous FGFR1 c.1418G>A variant (hg38: c.1424G>A, p.Arg475Gln - rs747333248, 34 total alleles in gnomAD v4.1.0, no homozygotes). Patient also homozygous for a STARD3 p.Ala247Val mutation, no disease association reported for this gene. Ambiguous genitalia highlighted as unusual presentation in FGFR1-related disease.

PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in heterozygous family members.
In the 6 heterozygous pedigrees, CHH was an autosomal dominant trait with incomplete penetrance.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). P1 was homozygous for L165S, heterozygous parents unaffected. P2 was homozygous for L191S, parents not available for testing.

PMID: 23154428 Jarzabek et al., 2012
5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations.
P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits).

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026).; to: PMID: 27055092 Mazen et al., 2016
Male patient with congenital heart disease (CHD) and ambiguous genitalia, referred at 15 months. Consanguineous parents, positive family history for CHD. Trio WES revealed a homozygous FGFR1 c.1418G>A variant (hg38: c.1424G>A, p.Arg475Gln - rs747333248, 34 total alleles in gnomAD v4.1.0, no homozygotes). Patient also homozygous for a STARD3 p.Ala247Val mutation, no disease association reported for this gene. Ambiguous genitalia highlighted as unusual presentation in FGFR1-related disease.

PMID: 25394172 Villanueva et al., 2015
7 individuals with Congenital hypogonadotropic hypogonadism (CHH), 3/7 with anosmia, and 7/7 with split hand/foot malformation. The patients harboured FGFR1 variants - 6 heterozygous and 1 homozygous.
P1: male, homozygous for c.1286T>A, p.V429E. Heterozygous sister and parents. Sister has hyposmia, otherwise no phenotype reported in heterozygous family members.
In the 6 heterozygous pedigrees, CHH was an autosomal dominant trait with incomplete penetrance.

PMID: 23812909 Simonis et al., 2013
6 patients with Hartsfield syndrome and 1 female fetus with similar symptoms. FGFR1 variants were detected in the extracellular binding domain (two patients with homozygous mutations) or the intracellular tyrosine kinase domain (four heterozygous de novo variants). Patients presented with holoprosencephaly 7/7 (lobar, alobar, or semilobar), corpus callosum agenesis 5/7 (full or partial), ectrodactyly 7/7 (hands and/or feet affected), growth retardation 6/6, genital anomalies 3/6 (micropenis, cryptorchidism), DD/ID 6/6 (mild to severe). Fetal case (patient 7) had no FGFR1 mutation detected.


PMID: 23154428 Jarzabek et al., 2012
5 Kallmann syndrome (KS) patients who carry FGFR1 mutations (Gly270Asp, Gly97Ser, Met161Thr, Ser685Phe and Ala167Ser/Ala167Ser). Patients 1-4 harboured de novo heterozygous FGFR1 mutations, while P5 was homozygous for the c.499G>T, p.Ala167Ser variant - his parents are sister are heterozygous and unaffected. All 5 patients had absent puberty, as well as hyposmia or anosmia. 3/5 patients presented with skeletal abnormalities and lip/palate malformations.
P5 (previously described in PMID: 12627230) had KS, cleft palate, corpus callosum agenesis, vertebral anomalies, unilateral fusion of fourth and fifth metacarpal bones, and bilateral oligodactyly of feet (four digits).

FGFR1 is associated with multiple dominant conditions in OMIM, including AD Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 and AD Hartsfield syndrome, OMIM:615465 (accessed 27th Feb 2026).
Fetal anomalies v6.183 FGFR1 Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172, 27055092; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.183 FSD1L Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: FSD1L.
Fetal anomalies v6.183 FSD1L Ida Ertmanska Classified gene: FSD1L as Amber List (moderate evidence)
Fetal anomalies v6.183 FSD1L Ida Ertmanska Added comment: Comment on list classification: There are at least three unrelated fetal cases reported in literature with biallelic FSD1L variants. Based on available evidence, FSD1L should be promoted to Green at the next update.
Fetal anomalies v6.183 FSD1L Ida Ertmanska Gene: fsd1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.182 PPP2R1A Arina Puzriakova Phenotypes for gene: PPP2R1A were changed from INTELLECTUAL DISABILITY to Houge-Janssens syndrome 2, OMIM:616362
Fetal anomalies v6.181 ITCH Ludmila Volozonoka reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36338154; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.181 C1orf127 Ida Ertmanska Tag gene-checked was removed from gene: C1orf127.
Fetal anomalies v6.181 C16orf62 Ida Ertmanska Tag gene-checked was removed from gene: C16orf62.
Fetal anomalies v6.181 EFCAB1 Ida Ertmanska Tag gene-checked was removed from gene: EFCAB1.
Fetal anomalies v6.181 C11orf70 Ida Ertmanska Tag gene-checked was removed from gene: C11orf70.
Fetal anomalies v6.181 AL117258.1 Ida Ertmanska Tag gene-checked was removed from gene: AL117258.1.
Fetal anomalies v6.181 PDE12 Ida Ertmanska Tag gene-checked tag was added to gene: PDE12.
Fetal anomalies v6.181 PDCD2 Ida Ertmanska Tag gene-checked tag was added to gene: PDCD2.
Fetal anomalies v6.181 NDUFAF8 Ida Ertmanska Tag gene-checked was removed from gene: NDUFAF8.
Fetal anomalies v6.181 LRRC56 Ida Ertmanska Tag gene-checked was removed from gene: LRRC56.
Fetal anomalies v6.181 LINC01082 Ida Ertmanska Tag gene-checked tag was added to gene: LINC01082.
Fetal anomalies v6.181 LINC01081 Ida Ertmanska Tag gene-checked tag was added to gene: LINC01081.
Fetal anomalies v6.181 YIF1B Arina Puzriakova Tag gene-checked was removed from gene: YIF1B.
Fetal anomalies v6.181 WSB2 Arina Puzriakova Tag gene-checked tag was added to gene: WSB2.
Fetal anomalies v6.181 KDM2B Ida Ertmanska Tag gene-checked was removed from gene: KDM2B.
Fetal anomalies v6.181 KDM2B Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 20 Mar 2026.
Fetal anomalies v6.181 KDM2B Ida Ertmanska Phenotypes for gene: KDM2B were changed from Neurodevelopmental disorder MONDO:0700092, KDM2B-related to Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, OMIM:621474
Fetal anomalies v6.180 KCNJ8 Ida Ertmanska Tag gene-checked tag was added to gene: KCNJ8.
Fetal anomalies v6.180 WDR91 Arina Puzriakova Tag gene-checked tag was added to gene: WDR91.
Fetal anomalies v6.180 WDR91 Arina Puzriakova Publications for gene: WDR91 were set to 32732226; 34028500; 28860274
Fetal anomalies v6.179 IKZF2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes updated 20 Mar 2026.
Fetal anomalies v6.179 IKZF2 Ida Ertmanska Phenotypes for gene: IKZF2 were changed from Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 to Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233; Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234
Fetal anomalies v6.178 WDR37 Arina Puzriakova Tag gene-checked was removed from gene: WDR37.
Fetal anomalies v6.178 WBP11 Arina Puzriakova Tag gene-checked was removed from gene: WBP11.
Fetal anomalies v6.178 HMGB1 Ida Ertmanska Publications for gene: HMGB1 were set to 34164801
Fetal anomalies v6.177 HMGB1 Ida Ertmanska Tag gene-checked tag was added to gene: HMGB1.
Fetal anomalies v6.177 TXNDC15 Arina Puzriakova Tag gene-checked was removed from gene: TXNDC15.
Fetal anomalies v6.177 TUBGCP2 Arina Puzriakova Tag gene-checked was removed from gene: TUBGCP2.
Fetal anomalies v6.177 HECTD4 Ida Ertmanska Tag gene-checked was removed from gene: HECTD4.
Fetal anomalies v6.177 TRIT1 Arina Puzriakova Tag gene-checked was removed from gene: TRIT1.
Fetal anomalies v6.177 TRIM71 Arina Puzriakova Tag gene-checked was removed from gene: TRIM71.
Fetal anomalies v6.177 GREB1L Ida Ertmanska Tag gene-checked was removed from gene: GREB1L.
Fetal anomalies v6.177 GPKOW Ida Ertmanska Tag gene-checked tag was added to gene: GPKOW.
Fetal anomalies v6.177 TMEM94 Arina Puzriakova Tag gene-checked was removed from gene: TMEM94.
Fetal anomalies v6.177 GINS3 Ida Ertmanska Tag gene-checked tag was added to gene: GINS3.
Fetal anomalies v6.177 FRYL Ida Ertmanska Tag gene-checked was removed from gene: FRYL.
Fetal anomalies v6.177 FRYL Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 20 Mar 2026.
Fetal anomalies v6.177 FRYL Ida Ertmanska Phenotypes for gene: FRYL were changed from Neurodevelopmental disorder, MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, OMIM:621049; Pan-Chung-Bellen syndrome, MONDO:0975953
Fetal anomalies v6.176 TMEM17 Arina Puzriakova Tag gene-checked was removed from gene: TMEM17.
Fetal anomalies v6.176 TMEM218 Arina Puzriakova Tag gene-checked was removed from gene: TMEM218.
Fetal anomalies v6.176 TMEM17 Arina Puzriakova Publications for gene: TMEM17 were set to
Fetal anomalies v6.175 TMEM17 Arina Puzriakova Phenotypes for gene: TMEM17 were changed from Ciliopathy to ciliopathy, MONDO:0005308
Fetal anomalies v6.174 TMEM17 Arina Puzriakova Tag gene-checked tag was added to gene: TMEM17.
Fetal anomalies v6.174 TMEM167A Arina Puzriakova Tag gene-checked tag was added to gene: TMEM167A.
Fetal anomalies v6.174 TMEM167A Arina Puzriakova Publications for gene: TMEM167A were set to
Fetal anomalies v6.173 TMEM167A Arina Puzriakova Phenotypes for gene: TMEM167A were changed from Microcephaly, epilepsy and diabetes syndrome to Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Fetal anomalies v6.172 RREB1 Arina Puzriakova Publications for gene: RREB1 were set to
Fetal anomalies v6.171 RREB1 Arina Puzriakova Phenotypes for gene: RREB1 were changed from Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay to RASopathy, MONDO:0021060; Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay
Fetal anomalies v6.170 RREB1 Arina Puzriakova Tag gene-checked tag was added to gene: RREB1.
Fetal anomalies v6.170 RNU7-1 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype accessed on 20-03-2026
Fetal anomalies v6.170 RNU7-1 Arina Puzriakova Phenotypes for gene: RNU7-1 were changed from Aicardi-Goutieres syndrome 9 OMIM:619487 to Aicardi-Goutieres syndrome 9, OMIM:619487; Type I interferonopathy
Fetal anomalies v6.169 RNU7-1 Arina Puzriakova Tag gene-checked was removed from gene: RNU7-1.
Fetal anomalies v6.169 RNU5B-1 Arina Puzriakova Tag gene-checked was removed from gene: RNU5B-1.
Fetal anomalies v6.169 RNU4-2 Arina Puzriakova Tag gene-checked was removed from gene: RNU4-2.
Fetal anomalies v6.169 RNU12 Arina Puzriakova Tag gene-checked was removed from gene: RNU12.
Fetal anomalies v6.169 FRYL Ida Ertmanska Tag gene-checked tag was added to gene: FRYL.
Fetal anomalies v6.169 FAM177A1 Ida Ertmanska Tag gene-checked tag was added to gene: FAM177A1.
Fetal anomalies v6.169 EIF3B Ida Ertmanska Tag gene-checked tag was added to gene: EIF3B.
Fetal anomalies v6.169 DDX17 Ida Ertmanska Tag gene-checked tag was added to gene: DDX17.
Fetal anomalies v6.169 CSDE1 Ida Ertmanska Tag gene-checked tag was added to gene: CSDE1.
Fetal anomalies v6.169 CEP76 Ida Ertmanska Tag gene-checked tag was added to gene: CEP76.
Fetal anomalies v6.169 CCDC32 Ida Ertmanska Tag gene-checked tag was added to gene: CCDC32.
Fetal anomalies v6.169 CACHD1 Ida Ertmanska Tag gene-checked tag was added to gene: CACHD1.
Fetal anomalies v6.169 C14orf80 Ida Ertmanska Tag gene-checked tag was added to gene: C14orf80.
Fetal anomalies v6.169 SIX2 Arina Puzriakova Publications for gene: SIX2 were set to
Fetal anomalies v6.168 SIX2 Arina Puzriakova Phenotypes for gene: SIX2 were changed from frontonasal dysplasia to six2-related frontonasal dysplasia, MONDO:0044628
Fetal anomalies v6.167 SIX2 Arina Puzriakova Tag gene-checked tag was added to gene: SIX2.
Fetal anomalies v6.167 SHROOM4 Arina Puzriakova Tag gene-checked tag was added to gene: SHROOM4.
Fetal anomalies v6.167 BRF2 Ida Ertmanska Tag gene-checked tag was added to gene: BRF2.
Fetal anomalies v6.167 SHROOM4 Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Stocco dos Santos X-linked mental retardation syndrome, 300434 to Abnormal corpus callosum; congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Fetal anomalies v6.166 SHROOM4 Arina Puzriakova Publications for gene: SHROOM4 were set to 36379543; 32565546
Fetal anomalies v6.165 TMEM251 Ida Ertmanska commented on gene: TMEM251
Fetal anomalies v6.165 RSG1 Ida Ertmanska commented on gene: RSG1
Fetal anomalies v6.165 SART3 Arina Puzriakova Tag gene-checked tag was added to gene: SART3.
Fetal anomalies v6.165 MYLPF Ida Ertmanska commented on gene: MYLPF
Fetal anomalies v6.165 TTC26 Ida Ertmanska commented on gene: TTC26
Fetal anomalies v6.165 RSG1 Arina Puzriakova Tag gene-checked tag was added to gene: RSG1.
Fetal anomalies v6.165 H3F3B Ida Ertmanska commented on gene: H3F3B
Fetal anomalies v6.165 RSG1 Arina Puzriakova Phenotypes for gene: RSG1 were changed from ciliopathy to ciliopathy, MONDO:0005308
Fetal anomalies v6.164 RSG1 Arina Puzriakova Publications for gene: RSG1 were set to
Fetal anomalies v6.163 ARF3 Ida Ertmanska Tag gene-checked tag was added to gene: ARF3.
Fetal anomalies v6.163 ABI2 Ida Ertmanska Tag gene-checked tag was added to gene: ABI2.
Fetal anomalies v6.163 RNU7-1 Arina Puzriakova Tag gene-checked tag was added to gene: RNU7-1.
Fetal anomalies v6.163 RNU5B-1 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU5B-1.
Fetal anomalies v6.163 RNU2-2P Arina Puzriakova Phenotypes for gene: RNU2-2P were changed from neurodevelopmental disorder to Developmental and epileptic encephalopathy 119, OMIM:621304
Fetal anomalies v6.162 RBBP5 Arina Puzriakova Publications for gene: RBBP5 were set to
Fetal anomalies v6.161 RBBP5 Arina Puzriakova Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.160 RBBP5 Arina Puzriakova Tag gene-checked tag was added to gene: RBBP5.
Fetal anomalies v6.160 PRKCI Arina Puzriakova Tag gene-checked tag was added to gene: PRKCI.
Fetal anomalies v6.160 PRKCI Arina Puzriakova Phenotypes for gene: PRKCI were changed from Van der Woude syndrome to Van der Woude syndrome, MONDO:0019508
Fetal anomalies v6.159 TMEM251 Ida Ertmanska Tag new-gene-name tag was added to gene: TMEM251.
Fetal anomalies v6.159 PPP1R21 Arina Puzriakova Tag gene-checked was removed from gene: PPP1R21.
Fetal anomalies v6.159 PPP1R21 Arina Puzriakova Tag gene-checked tag was added to gene: PPP1R21.
Fetal anomalies v6.159 RSG1 Ida Ertmanska Tag new-gene-name tag was added to gene: RSG1.
Fetal anomalies v6.159 MYLPF Ida Ertmanska Tag new-gene-name tag was added to gene: MYLPF.
Fetal anomalies v6.159 H3F3B Ida Ertmanska Tag new-gene-name tag was added to gene: H3F3B.
Fetal anomalies v6.159 TTC26 Ida Ertmanska Tag new-gene-name tag was added to gene: TTC26.
Fetal anomalies v6.159 PHF5A Arina Puzriakova Phenotypes for gene: PHF5A were changed from PHF5A-related neurodevelopmental disorder with congenital malformations to PHF5A-related neurodevelopmental disorder with congenital malformations; neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.158 PDIA6 Arina Puzriakova Tag gene-checked tag was added to gene: PDIA6.
Fetal anomalies v6.158 ZNF865 Eleanor Williams Tag Q1_26_promote_green tag was added to gene: ZNF865.
Fetal anomalies v6.158 ZNF865 Eleanor Williams Classified gene: ZNF865 as Amber List (moderate evidence)
Fetal anomalies v6.158 ZNF865 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation of a green rating with a monoallelic MOI following GMS review.
Fetal anomalies v6.158 ZNF865 Eleanor Williams Gene: znf865 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.157 IKBKG Achchuthan Shanmugasundram Tag currently-ngs-unreportable tag was added to gene: IKBKG.
Fetal anomalies v6.157 SCN4A Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: SCN4A.
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTBP1.
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 MYH3 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: MYH3.
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: LMNB2.
Tag Q2_25_ NHS_review was removed from gene: LMNB2.
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. The GMS reviewers noted as follows: Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.

The GMS reviewers noted as follows:
Pathogenic monoallelic missense variants are causative of primary microcephaly. Homozygous loss-of-function variant reported in two related newborns with severe brain development abnormalities and perinatal death, phenotype consistent with Lmnb2-deficient mouse models (PMID:40011009). At least one further unrelated case is required to confirm an additional biallelic loss-of-function mechanism for LMNB2-related disease (mechanism of pathogenicity for monoallelic variants is uncertain).
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: GPKOW.
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: EVC2.
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Heterozygous variants cause Weyers acrofacial dysostosis: dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Polydactyly detectable prenatally. Hence, monoallelic MOI should be added.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Heterozygous variants cause Weyers acrofacial dysostosis: dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Polydactyly detectable prenatally. Hence, monoallelic MOI should be added.
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: MED12.
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 LIFR Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: LIFR.
Fetal anomalies v6.157 LIFR Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The GMS reviewers noted as follows: Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal.

The GMS reviewers noted as follows:
Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: SIX5.
Tag Q3_25_demote_red was removed from gene: SIX5.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Disputed by ClinGen and now red on most other panels. Variants in the literature have high frequency in gnomad.
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PLD1.
Tag Q3_25_expert_review was removed from gene: PLD1.
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LINC01082.
Tag Q3_25_expert_review was removed from gene: LINC01082.
Tag Q3_25_NHS_review was removed from gene: LINC01082.
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 Tag Q3_25_promote_green was removed from gene: LINC01081.
Tag Q3_25_expert_review was removed from gene: LINC01081.
Tag Q3_25_NHS_review was removed from gene: LINC01081.
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 v6.157 KIAA0556 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: KIAA0556.
Tag Q3_25_expert_review was removed from gene: KIAA0556.
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram Deleted their comment
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: EMX2.
Tag Q3_25_demote_amber was removed from gene: EMX2.
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Multiple patients reported in 1997 with schizencephaly and de novo EMX2 variants detected by targeted sequencing (PMID:9359037). However, subsequent sequencing studies in schizencephaly cohorts have not found any further cases (84 cases in PMID:17506092, 39 cases in PMID:18409201, 52 cases in PMID:20157829). Red on Australian PanelApp. Hence, the gene should be demoted from green rating.
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram Tag Q3_25_MOI was removed from gene: DISP1.
Tag Q3_25_expert_review was removed from gene: DISP1.
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

The GMS reviewers noted as follows:
Listed as both AD and AR in OMIM, with biallelic variants described as causal and monoallelic as a risk factor. PMID:38529886 - DISP1 monoallelic LoF or biallelic variants associated with minor forms of HPE (orofacial cleft, central incisor); in severe HPE, DISP1 variants occur together with a variant in another HPE gene. Green for monoallelic/biallelic on Australian panel.
Fetal anomalies v6.157 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 SCN4A Achchuthan Shanmugasundram commented on gene: SCN4A
Fetal anomalies v6.157 PTBP1 Achchuthan Shanmugasundram reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted as follows: ClinGen - definitive. Green on Aus panel. Fetal cases previously reported. It should be noted however that isolated cardiac is not an idication for R21 but there is one with abdominal effusions . It was downgraded due to downgrade on other panels so all should go green if fetal anomalies does.; Changed rating: GREEN
Fetal anomalies v6.157 MYH3 Achchuthan Shanmugasundram commented on gene: MYH3
Fetal anomalies v6.157 MED12 Achchuthan Shanmugasundram commented on gene: MED12
Fetal anomalies v6.157 LMNB2 Achchuthan Shanmugasundram commented on gene: LMNB2
Fetal anomalies v6.157 LINC01082 Achchuthan Shanmugasundram reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 LINC01081 Achchuthan Shanmugasundram reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 LIFR Achchuthan Shanmugasundram commented on gene: LIFR
Fetal anomalies v6.157 KIAA0556 Achchuthan Shanmugasundram edited their review of gene: KIAA0556: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.157 GPKOW Achchuthan Shanmugasundram reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 EVC2 Achchuthan Shanmugasundram commented on gene: EVC2
Fetal anomalies v6.157 EMX2 Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.157 DISP1 Achchuthan Shanmugasundram commented on gene: DISP1
Fetal anomalies v6.156 SIX5 Achchuthan Shanmugasundram Source NHS GMS was added to SIX5.
Source Expert Review Red was added to SIX5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.156 SCN4A Achchuthan Shanmugasundram Source NHS GMS was added to SCN4A.
Mode of inheritance for gene SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.156 PLD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 MYH3 Achchuthan Shanmugasundram Source NHS GMS was added to MYH3.
Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v6.156 LINC01082 Achchuthan Shanmugasundram Source Expert Review Green was added to LINC01082.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 LINC01081 Achchuthan Shanmugasundram Source Expert Review Green was added to LINC01081.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.156 GPKOW Achchuthan Shanmugasundram Source NHS GMS was added to GPKOW.
Fetal anomalies v6.156 EVC2 Achchuthan Shanmugasundram Source NHS GMS was added to EVC2.
Mode of inheritance for gene EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.156 EMX2 Achchuthan Shanmugasundram Source NHS GMS was added to EMX2.
Source Expert Review Amber was added to EMX2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v6.156 DISP1 Achchuthan Shanmugasundram Source NHS GMS was added to DISP1.
Mode of inheritance for gene DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.155 RNU7-1 Arina Puzriakova Publications for gene: RNU7-1 were set to
Fetal anomalies v6.154 RNU7-1 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova commented on gene: RNU2-2P: The new-gene-name tag has been added as the latest HGNC symbol is RNU2-2.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova Tag new-gene-name tag was added to gene: RNU2-2P.
Tag locus-type-rna-small-nuclear tag was added to gene: RNU2-2P.
Fetal anomalies v6.154 RNU2-2P Arina Puzriakova Publications for gene: RNU2-2P were set to
Fetal anomalies v6.153 CLCNKB Arina Puzriakova commented on gene: CLCNKB: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKB variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.153 CLCNKB Arina Puzriakova Publications for gene: CLCNKB were set to
Fetal anomalies v6.152 CLCNKB Arina Puzriakova Tag digenic tag was added to gene: CLCNKB.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova changed review comment from: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.; to: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). The literature indicates that CLCNKA variants in patients are typically biallelic. While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova commented on gene: CLCNKA: Digenic CLCNKA and CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090). While the Genomics England bioinformatics pipeline does not currently support the interpretation of digenic events, this panel is delivered by a specialised service with the capability to assess and report on these variants. Therefore, this gene has been included on the Fetal anomalies panel.
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Tag digenic tag was added to gene: CLCNKA.
Fetal anomalies v6.152 ACVR2B Arina Puzriakova Added phenotypes Heterotaxy, visceral, 4, autosomal for gene: ACVR2B
Fetal anomalies v6.152 SPTBN1 Arina Puzriakova Added phenotypes Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475 for gene: SPTBN1
Fetal anomalies v6.152 TAF13 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 60, OMIM:617432 for gene: TAF13
Fetal anomalies v6.152 PLXNB2 Arina Puzriakova Added phenotypes amelogenesis imperfecta, hearing loss and intellectual disability for gene: PLXNB2
Fetal anomalies v6.152 ZDHHC9 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799 for gene: ZDHHC9
Fetal anomalies v6.152 TRIO Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825 for gene: TRIO
Fetal anomalies v6.152 SLC9A6 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243 for gene: SLC9A6
Fetal anomalies v6.152 SHROOM4 Arina Puzriakova Added phenotypes congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems for gene: SHROOM4
Fetal anomalies v6.152 PLXNA1 Arina Puzriakova Added phenotypes Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 for gene: PLXNA1
Fetal anomalies v6.152 HDAC2 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: HDAC2
Fetal anomalies v6.152 CHD8 Arina Puzriakova Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8
Fetal anomalies v6.152 BRWD3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked 93, OMIM:300659 for gene: BRWD3
Fetal anomalies v6.152 SGCG Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700 for gene: SGCG
Fetal anomalies v6.152 SGCD Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287 for gene: SGCD
Fetal anomalies v6.152 SGCB Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286 for gene: SGCB
Fetal anomalies v6.152 SGCA Arina Puzriakova Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 for gene: SGCA
Fetal anomalies v6.152 PPP1R13L Arina Puzriakova Added phenotypes Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 for gene: PPP1R13L
Fetal anomalies v6.152 POLA1 Arina Puzriakova Added phenotypes Van Esch-O'Driscoll syndrome, OMIM:301030 for gene: POLA1
Fetal anomalies v6.152 PIGU Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 for gene: PIGU
Fetal anomalies v6.152 PIGK Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879 for gene: PIGK
Fetal anomalies v6.152 PIGB Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 for gene: PIGB
Fetal anomalies v6.152 WDR11 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 78, OMIM:620237 for gene: WDR11
Fetal anomalies v6.152 WASHC3 Arina Puzriakova Added phenotypes short stature, distinctive facies, and neurodevelopmental abnormalities for gene: WASHC3
Fetal anomalies v6.152 VPS51 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 13, OMIM:618606 for gene: VPS51
Fetal anomalies v6.152 VPS50 Arina Puzriakova Added phenotypes neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685 for gene: VPS50
Fetal anomalies v6.152 VPS33A Arina Puzriakova Added phenotypes Mucopolysaccharidosis-plus syndrome, OMIM:617303 for gene: VPS33A
Fetal anomalies v6.152 UGGT1 Arina Puzriakova Added phenotypes Congenital disorder of glycosylation for gene: UGGT1
Fetal anomalies v6.152 TUBGCP2 Arina Puzriakova Added phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 for gene: TUBGCP2
Fetal anomalies v6.152 CLCNKB Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter syndrome, type 3, OMIM:607364 for gene: CLCNKB
Fetal anomalies v6.152 CLCNKA Arina Puzriakova Added phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 for gene: CLCNKA
Fetal anomalies v6.152 DHX37 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731 for gene: DHX37
Fetal anomalies v6.152 SNAPIN Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: SNAPIN
Fetal anomalies v6.152 PATJ Arina Puzriakova Added phenotypes ciliopathy for gene: PATJ
Fetal anomalies v6.152 NSD2 Arina Puzriakova Added phenotypes Rauch-Steindl syndrome OMIM:619695 for gene: NSD2
Fetal anomalies v6.152 MNS1 Arina Puzriakova Added phenotypes Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive) for gene: MNS1
Fetal anomalies v6.152 CCP110 Arina Puzriakova Added phenotypes ciliopathy for gene: CCP110
Fetal anomalies v6.152 PLXNB3 Arina Puzriakova Added phenotypes congenital heart disease with neurodevelopmental disabilities for gene: PLXNB3
Fetal anomalies v6.152 ARHGEF17 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: ARHGEF17
Fetal anomalies v6.152 FBXO11 Arina Puzriakova Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089 for gene: FBXO11
Fetal anomalies v6.152 PPP1R12A Arina Puzriakova Added phenotypes Genitourinary and/or brain malformation syndrome, OMIM:618820 for gene: PPP1R12A
Fetal anomalies v6.152 PRDM13 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 17, OMIM:619909 for gene: PRDM13
Fetal anomalies v6.152 CDC40 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 15, OMIM:619302 for gene: CDC40
Fetal anomalies v6.152 PCLO Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 3, OMIM:608027 for gene: PCLO
Fetal anomalies v6.152 EXOSC1 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 1F, OMIM:619304 for gene: EXOSC1
Fetal anomalies v6.152 EXOSC9 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia, type 1D, OMIM:618065 for gene: EXOSC9
Fetal anomalies v6.152 CCT8 Arina Puzriakova Added phenotypes Brain malformations, intellectual disability, and seizures for gene: CCT8
Fetal anomalies v6.152 CCM2L Arina Puzriakova Added phenotypes Tetralogy of Fallot for gene: CCM2L
Fetal anomalies v6.152 CCDC88A Arina Puzriakova Added phenotypes PEHO syndrome-like, OMIM:617507 for gene: CCDC88A
Fetal anomalies v6.152 CBFB Arina Puzriakova Added phenotypes Cleidocranial dysplasia-2, OMIM:620099 for gene: CBFB
Fetal anomalies v6.152 BRF2 Arina Puzriakova Added phenotypes Syndromic immunodeficiency and developmental disorders for gene: BRF2
Fetal anomalies v6.152 BRF1 Arina Puzriakova Added phenotypes Cerebellofaciodental syndrome, OMIM:616202 for gene: BRF1
Fetal anomalies v6.152 B9D1 Arina Puzriakova Added phenotypes Joubert syndrome 27, OMIM:617120 for gene: B9D1
Fetal anomalies v6.152 ARAF Arina Puzriakova Added phenotypes Lymphatic anomaly for gene: ARAF
Fetal anomalies v6.152 ANKRD17 Arina Puzriakova Added phenotypes Chopra-Amiel-Gordon syndrome, OMIM:619504 for gene: ANKRD17
Fetal anomalies v6.152 ALKBH8 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 for gene: ALKBH8
Fetal anomalies v6.152 AIMP2 Arina Puzriakova Added phenotypes Leukodystrophy, hypomyelinating, 17, OMIM:618006 for gene: AIMP2
Fetal anomalies v6.152 AIMP1 Arina Puzriakova Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1
Fetal anomalies v6.152 ADAT3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 for gene: ADAT3
Fetal anomalies v6.152 ADAMTS13 Arina Puzriakova Added phenotypes Hereditary thrombotic thrombocytopenic purpura, OMIM:274150 for gene: ADAMTS13
Fetal anomalies v6.152 ABI2 Arina Puzriakova Added phenotypes Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities for gene: ABI2
Fetal anomalies v6.152 RHOBTB2 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 64, OMIM:618004 for gene: RHOBTB2
Fetal anomalies v6.152 RBBP5 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RBBP5
Fetal anomalies v6.152 RALGAPA1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797 for gene: RALGAPA1
Fetal anomalies v6.152 RALA Arina Puzriakova Added phenotypes Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311 for gene: RALA
Fetal anomalies v6.152 PPP1R21 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 for gene: PPP1R21
Fetal anomalies v6.152 RNU2-2P Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RNU2-2P
Fetal anomalies v6.152 ACVR1 Arina Puzriakova Added phenotypes Fibrodysplasia ossificans progressiva, OMIM:135100 for gene: ACVR1
Fetal anomalies v6.152 TMPRSS7 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: TMPRSS7
Fetal anomalies v6.152 IL6ST Arina Puzriakova Added phenotypes Stuve-Wiedemann syndrome 2, OMIM:619751 for gene: IL6ST
Fetal anomalies v6.152 ZBTB7A Arina Puzriakova Added phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 for gene: ZBTB7A
Fetal anomalies v6.152 ASXL2 Arina Puzriakova Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Fetal anomalies v6.152 ZPR1 Arina Puzriakova Added phenotypes Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 for gene: ZPR1
Fetal anomalies v6.152 ZNF668 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 for gene: ZNF668
Fetal anomalies v6.152 YY1AP1 Arina Puzriakova Added phenotypes Grange syndrome, OMIM:602531 for gene: YY1AP1
Fetal anomalies v6.152 WNK3 Arina Puzriakova Added phenotypes Prieto syndrome, OMIM:309610 for gene: WNK3
Fetal anomalies v6.152 TEK Arina Puzriakova Added phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195 for gene: TEK
Fetal anomalies v6.152 GATAD2B Arina Puzriakova Added phenotypes GAND syndrome, OMIM:615074 for gene: GATAD2B
Fetal anomalies v6.152 CACHD1 Arina Puzriakova Added phenotypes Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities for gene: CACHD1
Fetal anomalies v6.152 BAZ2B Arina Puzriakova Added phenotypes Complex neurodevelopmental disorder for gene: BAZ2B
Fetal anomalies v6.152 ARHGEF40 Arina Puzriakova Added phenotypes Congenital anomalies and developmental delay for gene: ARHGEF40
Fetal anomalies v6.152 SMARCC2 Arina Puzriakova Added phenotypes Coffin-Siris syndrome 8, OMIM:618362 for gene: SMARCC2
Fetal anomalies v6.152 SATB1 Arina Puzriakova Added phenotypes Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228 for gene: SATB1
Fetal anomalies v6.152 SART3 Arina Puzriakova Added phenotypes Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis for gene: SART3
Fetal anomalies v6.152 ROBO4 Arina Puzriakova Added phenotypes Aortic valve disease 3, OMIM:618496 for gene: ROBO4
Fetal anomalies v6.152 RNF13 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 73, OMIM:618379 for gene: RNF13
Fetal anomalies v6.152 TMEM263 Arina Puzriakova Added phenotypes skeletal dysplasia for gene: TMEM263
Fetal anomalies v6.152 TMEM251 Arina Puzriakova Added phenotypes Dysostosis multiplex, Ain-Naz type, OMIM:619345 for gene: TMEM251
Fetal anomalies v6.152 SMG8 Arina Puzriakova Added phenotypes Alzahrani-Kuwahara syndrome, OMIM:619268 for gene: SMG8
Fetal anomalies v6.152 SMC5 Arina Puzriakova Added phenotypes Atelis syndrome 2, OMIM:620185 for gene: SMC5
Fetal anomalies v6.152 SLF2 Arina Puzriakova Added phenotypes Atelis syndrome 1, OMIM:620184 for gene: SLF2
Fetal anomalies v6.152 SLC5A6 Arina Puzriakova Added phenotypes Sodium-dependent multivitamin transporter deficiency, OMIM:618973 for gene: SLC5A6
Fetal anomalies v6.152 SLC13A1 Arina Puzriakova Added phenotypes short stature, scoliosis, and skeletal dysplasia for gene: SLC13A1
Fetal anomalies v6.152 SIX2 Arina Puzriakova Added phenotypes frontonasal dysplasia for gene: SIX2
Fetal anomalies v6.152 SIX1 Arina Puzriakova Added phenotypes Branchiootic syndrome 3, OMIM:608389 for gene: SIX1
Fetal anomalies v6.152 SELENON Arina Puzriakova Added phenotypes Congenital myopathy 3 with rigid spine; OMIM:602771 for gene: SELENON
Fetal anomalies v6.152 CSDE1 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: CSDE1
Fetal anomalies v6.152 GINS3 Arina Puzriakova Added phenotypes Meier-Gorlin syndrome for gene: GINS3
Fetal anomalies v6.152 CAMSAP1 Arina Puzriakova Added phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 for gene: CAMSAP1
Fetal anomalies v6.152 BUB1 Arina Puzriakova Added phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 for gene: BUB1
Fetal anomalies v6.152 RAB35 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: RAB35
Fetal anomalies v6.152 ARF3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder, brain abnormality for gene: ARF3
Fetal anomalies v6.152 ANKLE2 Arina Puzriakova Added phenotypes Microcephaly 16, primary, autosomal recessive, OMIM:616681 for gene: ANKLE2
Fetal anomalies v6.152 ETV2 Arina Puzriakova Added phenotypes congenital heart defects, vertebral abnormalities and preaxial polydactyly for gene: ETV2
Fetal anomalies v6.152 RAD51C Arina Puzriakova Added phenotypes Fanconi anemia, complementation group O, OMIM:613390 for gene: RAD51C
Fetal anomalies v6.152 CEP162 Arina Puzriakova Added phenotypes ciliopathy for gene: CEP162
Fetal anomalies v6.152 LINC01578 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 for gene: LINC01578
Fetal anomalies v6.152 KCNN4 Arina Puzriakova Added phenotypes Dehydrated hereditary stomatocytosis 2, OMIM:616689 for gene: KCNN4
Fetal anomalies v6.152 MMP9 Arina Puzriakova Added phenotypes Metaphyseal anadysplasia 2, OMIM:613073 for gene: MMP9
Fetal anomalies v6.152 KDM4B Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 65, OMIM:619320 for gene: KDM4B
Fetal anomalies v6.152 TMEM167A Arina Puzriakova Added phenotypes Microcephaly, epilepsy and diabetes syndrome for gene: TMEM167A
Fetal anomalies v6.152 PTBP1 Arina Puzriakova Added phenotypes neurodevelopmental disorder with skeletal dysplasia for gene: PTBP1
Fetal anomalies v6.152 PDIA6 Arina Puzriakova Added phenotypes Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay for gene: PDIA6
Fetal anomalies v6.152 CRELD1 Arina Puzriakova Added phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 for gene: CRELD1
Fetal anomalies v6.152 DLG3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked 90, OMIM:300850 for gene: DLG3
Fetal anomalies v6.152 SF1 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: SF1
Fetal anomalies v6.152 TH Arina Puzriakova Added phenotypes Segawa syndrome, recessive, OMIM:605407 for gene: TH
Fetal anomalies v6.152 YRDC Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 10, OMIM:619609 for gene: YRDC
Fetal anomalies v6.152 NUP133 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 8, OMIM:618349 for gene: NUP133
Fetal anomalies v6.152 GON7 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 9, OMIM:619603 for gene: GON7
Fetal anomalies v6.152 TPRKB Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 5, OMIM:617731 for gene: TPRKB
Fetal anomalies v6.152 TP53RK Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 4, OMIM:617730 for gene: TP53RK
Fetal anomalies v6.152 THUMPD1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989 for gene: THUMPD1
Fetal anomalies v6.152 TASP1 Arina Puzriakova Added phenotypes Suleiman-El-Hattab syndrome, OMIM:618950 for gene: TASP1
Fetal anomalies v6.152 SPOP Arina Puzriakova Added phenotypes Nabais Sa-de Vries syndrome, type 1, OMIM:618828; Nabais Sa-de Vries syndrome, type 2, OMIM:618829 for gene: SPOP
Fetal anomalies v6.152 SOX4 Arina Puzriakova Added phenotypes Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506 for gene: SOX4
Fetal anomalies v6.152 RSG1 Arina Puzriakova Added phenotypes ciliopathy for gene: RSG1
Fetal anomalies v6.152 DHRS3 Arina Puzriakova Added phenotypes coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis for gene: DHRS3
Fetal anomalies v6.152 NR6A1 Arina Puzriakova Added phenotypes Oculovertebral syndrome, OMIM:621277 for gene: NR6A1
Fetal anomalies v6.152 WSB2 Arina Puzriakova Added phenotypes neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly for gene: WSB2
Fetal anomalies v6.152 WDR91 Arina Puzriakova Added phenotypes microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment for gene: WDR91
Fetal anomalies v6.152 TTC26 Arina Puzriakova Added phenotypes Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534 for gene: TTC26
Fetal anomalies v6.152 TMEM17 Arina Puzriakova Added phenotypes Ciliopathy for gene: TMEM17
Fetal anomalies v6.152 SMAD5 Arina Puzriakova Added phenotypes congenital heart disease for gene: SMAD5
Fetal anomalies v6.152 SCNM1 Arina Puzriakova Added phenotypes Orofaciodigital syndrome XIX; OMIM:620107 for gene: SCNM1
Fetal anomalies v6.152 RREB1 Arina Puzriakova Added phenotypes Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay for gene: RREB1
Fetal anomalies v6.152 PDCD6IP Arina Puzriakova Added phenotypes Microcephaly 29, primary, autosomal recessive, OMIM:620047 for gene: PDCD6IP
Fetal anomalies v6.152 GPKOW Arina Puzriakova Added phenotypes Intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities for gene: GPKOW
Fetal anomalies v6.152 CEP76 Arina Puzriakova Added phenotypes Joubert syndrome; Bardet-Biedl syndrome; retinitis pigmentosa; complex neurodevelopmental disorder MONDO:0100038 for gene: CEP76
Fetal anomalies v6.152 CCDC32 Arina Puzriakova Added phenotypes Cardiofacioneurodevelopmental syndrome, OMIM:619123 for gene: CCDC32
Fetal anomalies v6.152 BBIP1 Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 18, MIM #615995 for gene: BBIP1
Fetal anomalies v6.152 RNU7-1 Arina Puzriakova Added phenotypes Aicardi-Goutieres syndrome 9 OMIM:619487 for gene: RNU7-1
Fetal anomalies v6.152 MYLPF Arina Puzriakova Added phenotypes Arthrogryposis, distal, type 1C, OMIM:617378 for gene: MYLPF
Fetal anomalies v6.152 LMOD2 Arina Puzriakova Added phenotypes Cardiomyopathy, dilated, 2G, OMIM:619897 for gene: LMOD2
Fetal anomalies v6.152 LHX2 Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: LHX2
Fetal anomalies v6.152 HMGB1 Arina Puzriakova Added phenotypes brachyphalangy, polydactyly and tibial aplasia syndrome for gene: HMGB1
Fetal anomalies v6.152 NUDCD2 Arina Puzriakova Added phenotypes multiple malformation syndrome with cholestasis and renal failure for gene: NUDCD2
Fetal anomalies v6.152 RNU5A-1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: RNU5A-1
Fetal anomalies v6.152 RNPC3 Arina Puzriakova Added phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 for gene: RNPC3
Fetal anomalies v6.152 RASA2 Arina Puzriakova Added phenotypes Noonan syndrome for gene: RASA2
Fetal anomalies v6.152 PURA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158 for gene: PURA
Fetal anomalies v6.152 PLOD3 Arina Puzriakova Added phenotypes BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394 for gene: PLOD3
Fetal anomalies v6.152 PDCD2 Arina Puzriakova Added phenotypes Nonimmune hydrops fetalis for gene: PDCD2
Fetal anomalies v6.152 NOVA2 Arina Puzriakova Added phenotypes neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities for gene: NOVA2
Fetal anomalies v6.152 NOTCH3 Arina Puzriakova Added phenotypes Lateral meningocele syndrome, OMIM:130720 for gene: NOTCH3
Fetal anomalies v6.152 BNIP1 Arina Puzriakova Added phenotypes Spondyloepiphyseal dysplasia, Holling type, OMIM:621345 for gene: BNIP1
Fetal anomalies v6.152 PACSIN3 Arina Puzriakova Added phenotypes Congenital myopathy 27, OMIM:621343 for gene: PACSIN3
Fetal anomalies v6.152 SEPHS1 Arina Puzriakova Added phenotypes Ververi-Brady syndrome 2, OMIM:621325 for gene: SEPHS1
Fetal anomalies v6.152 ELFN1 Arina Puzriakova Added phenotypes Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344 for gene: ELFN1
Fetal anomalies v6.152 LSM1 Arina Puzriakova Added phenotypes FICUS syndrome, OMIM:621193 for gene: LSM1
Fetal anomalies v6.152 LEF1 Arina Puzriakova Added phenotypes Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224 for gene: LEF1
Fetal anomalies v6.152 LDB3 Arina Puzriakova Added phenotypes Dilated cardiomyopathy for gene: LDB3
Fetal anomalies v6.152 IKZF2 Arina Puzriakova Added phenotypes Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234 for gene: IKZF2
Fetal anomalies v6.152 GTF3C3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 for gene: GTF3C3
Fetal anomalies v6.152 GNPNAT1 Arina Puzriakova Added phenotypes Talipes equinovarus for gene: GNPNAT1
Fetal anomalies v6.152 FGF4 Arina Puzriakova Added phenotypes Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 for gene: FGF4
Fetal anomalies v6.152 FEM1B Arina Puzriakova Added phenotypes Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539 for gene: FEM1B
Fetal anomalies v6.152 DOT1L Arina Puzriakova Added phenotypes Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 for gene: DOT1L
Fetal anomalies v6.152 CDX1 Arina Puzriakova Added phenotypes Anorectal malformations for gene: CDX1
Fetal anomalies v6.152 CDH11 Arina Puzriakova Added phenotypes Teebi hypertelorism syndrome 2, OMIM:619736 for gene: CDH11
Fetal anomalies v6.152 FBXO28 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 for gene: FBXO28
Fetal anomalies v6.152 EMC10 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 for gene: EMC10
Fetal anomalies v6.152 EIF4A2 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455 for gene: EIF4A2
Fetal anomalies v6.152 EDN1 Arina Puzriakova Added phenotypes Auriculocondylar syndrome 3, OMIM:615706 for gene: EDN1
Fetal anomalies v6.152 DPH5 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 for gene: DPH5
Fetal anomalies v6.152 DIP2C Arina Puzriakova Added phenotypes neurodevelopmental disorder, congenital heart defects for gene: DIP2C
Fetal anomalies v6.152 DHPS Arina Puzriakova Added phenotypes Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480 for gene: DHPS
Fetal anomalies v6.152 DDX23 Arina Puzriakova Added phenotypes Syndromic neurodevelopmental disorder for gene: DDX23
Fetal anomalies v6.152 CDC42BPB Arina Puzriakova Added phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841 for gene: CDC42BPB
Fetal anomalies v6.152 CDC42 Arina Puzriakova Added phenotypes Takenouchi-Kosaki syndrome, OMIM:616737 for gene: CDC42
Fetal anomalies v6.152 ADAMTS9 Arina Puzriakova Added phenotypes ciliopathy for gene: ADAMTS9
Fetal anomalies v6.152 YWHAE Arina Puzriakova Added phenotypes neurodevelopmental disorder for gene: YWHAE
Fetal anomalies v6.152 HNRNPH1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 for gene: HNRNPH1
Fetal anomalies v6.152 HNRNPR Arina Puzriakova Added phenotypes Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 for gene: HNRNPR
Fetal anomalies v6.152 CLCN3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 for gene: CLCN3
Fetal anomalies v6.152 ATP6V0A1 Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 104, OMIM:619970; Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971 for gene: ATP6V0A1
Fetal anomalies v6.152 SKOR2 Arina Puzriakova Added phenotypes Cerebellar hypoplasia, neurodevelopmental delay for gene: SKOR2
Fetal anomalies v6.152 AMOT Arina Puzriakova Added phenotypes Congenital hydrocephalus for gene: AMOT
Fetal anomalies v6.152 PRKCI Arina Puzriakova Added phenotypes Van der Woude syndrome for gene: PRKCI
Fetal anomalies v6.152 TRPM4 Arina Puzriakova Added phenotypes Progressive familial heart block, type IB, OMIM:604559 for gene: TRPM4
Fetal anomalies v6.152 HERC2 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 38, OMIM:615516 for gene: HERC2
Fetal anomalies v6.152 HACD1 Arina Puzriakova Added phenotypes Congenital myopathy 11, OMIM:619967 for gene: HACD1
Fetal anomalies v6.152 H3F3B Arina Puzriakova Added phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721 for gene: H3F3B
Fetal anomalies v6.152 FIBP Arina Puzriakova Added phenotypes Thauvin-Robinet-Faivre syndrome, OMIM:617107 for gene: FIBP
Fetal anomalies v6.152 FBXW7 Arina Puzriakova Added phenotypes Developmental delay, hypotonia, and impaired language, OMIM:620012 for gene: FBXW7
Fetal anomalies v6.152 PMS2 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 4, OMIM:619101 for gene: PMS2
Fetal anomalies v6.152 MSH6 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 3, OMIM:619097 for gene: MSH6
Fetal anomalies v6.152 MSH2 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 2, OMIM:619096 for gene: MSH2
Fetal anomalies v6.152 MLH1 Arina Puzriakova Added phenotypes Mismatch repair cancer syndrome 1, OMIM:276300 for gene: MLH1
Fetal anomalies v6.152 KCNJ8 Arina Puzriakova Added phenotypes Cantu syndrome for gene: KCNJ8
Fetal anomalies v6.152 MAST1 Arina Puzriakova Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273 for gene: MAST1
Fetal anomalies v6.152 MAPK8IP3 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 for gene: MAPK8IP3
Fetal anomalies v6.152 LRRC32 Arina Puzriakova Added phenotypes Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047 for gene: LRRC32
Fetal anomalies v6.152 KIAA0556 Arina Puzriakova Added phenotypes Joubert syndrome 26, OMIM:616784 for gene: KIAA0556
Fetal anomalies v6.152 KCNQ5 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal dominant 46, OMIM:617601 for gene: KCNQ5
Fetal anomalies v6.152 INPP4A Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: INPP4A
Fetal anomalies v6.152 IFT57 Arina Puzriakova Added phenotypes Bardet-Biedl Syndrome for gene: IFT57
Fetal anomalies v6.152 HEY2 Arina Puzriakova Added phenotypes Tetralogy of Fallot for gene: HEY2
Fetal anomalies v6.152 FOXI3 Arina Puzriakova Added phenotypes Craniofacial microsomia 2, OMIM:620444 for gene: FOXI3
Fetal anomalies v6.152 ENPP5 Arina Puzriakova Added phenotypes Skeletal dysplasia for gene: ENPP5
Fetal anomalies v6.152 EDA Arina Puzriakova Added phenotypes Hypohidrotic ectodermal dysplasia for gene: EDA
Fetal anomalies v6.152 DNAH14 Arina Puzriakova Added phenotypes Neurodevelopmental disorder for gene: DNAH14
Fetal anomalies v6.152 DDR1 Arina Puzriakova Added phenotypes Chondrodysplasia with multiple dislocations for gene: DDR1
Fetal anomalies v6.152 CPOX Arina Puzriakova Added phenotypes Harderoporphyria, OMIM:618892 for gene: CPOX
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 v6.150 SGCG Arina Puzriakova edited their review of gene: SGCG: Changed rating: RED
Fetal anomalies v6.150 ACVR2B Arina Puzriakova edited their review of gene: ACVR2B: Changed rating: RED
Fetal anomalies v6.150 ZPR1 Arina Puzriakova edited their review of gene: ZPR1: Changed rating: GREEN
Fetal anomalies v6.150 ZNF668 Arina Puzriakova edited their review of gene: ZNF668: Changed rating: GREEN
Fetal anomalies v6.150 ZBTB7A Arina Puzriakova edited their review of gene: ZBTB7A: Changed rating: GREEN
Fetal anomalies v6.150 YY1AP1 Arina Puzriakova edited their review of gene: YY1AP1: Changed rating: GREEN
Fetal anomalies v6.150 WNK3 Arina Puzriakova edited their review of gene: WNK3: Changed rating: GREEN
Fetal anomalies v6.150 VPS51 Arina Puzriakova edited their review of gene: VPS51: Changed rating: GREEN
Fetal anomalies v6.150 VPS50 Arina Puzriakova edited their review of gene: VPS50: Changed rating: GREEN
Fetal anomalies v6.150 VPS33A Arina Puzriakova edited their review of gene: VPS33A: Changed rating: GREEN
Fetal anomalies v6.150 UGGT1 Arina Puzriakova edited their review of gene: UGGT1: Changed rating: GREEN
Fetal anomalies v6.150 TTC26 Arina Puzriakova edited their review of gene: TTC26: Changed rating: GREEN
Fetal anomalies v6.150 TPRKB Arina Puzriakova edited their review of gene: TPRKB: Changed rating: GREEN
Fetal anomalies v6.150 TP53RK Arina Puzriakova edited their review of gene: TP53RK: Changed rating: GREEN
Fetal anomalies v6.150 TMEM251 Arina Puzriakova edited their review of gene: TMEM251: Changed rating: GREEN
Fetal anomalies v6.150 TMEM17 Arina Puzriakova edited their review of gene: TMEM17: Changed rating: GREEN
Fetal anomalies v6.150 TMEM167A Arina Puzriakova edited their review of gene: TMEM167A: Changed rating: GREEN
Fetal anomalies v6.150 THUMPD1 Arina Puzriakova edited their review of gene: THUMPD1: Changed rating: GREEN
Fetal anomalies v6.150 TASP1 Arina Puzriakova edited their review of gene: TASP1: Changed rating: GREEN
Fetal anomalies v6.150 SOX4 Arina Puzriakova edited their review of gene: SOX4: Changed rating: GREEN
Fetal anomalies v6.150 SMG8 Arina Puzriakova edited their review of gene: SMG8: Changed rating: GREEN
Fetal anomalies v6.150 SMC5 Arina Puzriakova edited their review of gene: SMC5: Changed rating: GREEN
Fetal anomalies v6.150 SMARCC2 Arina Puzriakova edited their review of gene: SMARCC2: Changed rating: GREEN
Fetal anomalies v6.150 SLF2 Arina Puzriakova edited their review of gene: SLF2: Changed rating: GREEN
Fetal anomalies v6.150 SLC5A6 Arina Puzriakova edited their review of gene: SLC5A6: Changed rating: GREEN
Fetal anomalies v6.150 SKOR2 Arina Puzriakova edited their review of gene: SKOR2: Changed rating: GREEN
Fetal anomalies v6.150 SIX2 Arina Puzriakova edited their review of gene: SIX2: Changed rating: GREEN
Fetal anomalies v6.150 SCNM1 Arina Puzriakova edited their review of gene: SCNM1: Changed rating: GREEN
Fetal anomalies v6.150 SATB1 Arina Puzriakova edited their review of gene: SATB1: Changed rating: GREEN
Fetal anomalies v6.150 SART3 Arina Puzriakova edited their review of gene: SART3: Changed rating: GREEN
Fetal anomalies v6.150 RSG1 Arina Puzriakova edited their review of gene: RSG1: Changed rating: GREEN
Fetal anomalies v6.150 RNU7-1 Arina Puzriakova edited their review of gene: RNU7-1: Changed rating: GREEN
Fetal anomalies v6.150 RHOBTB2 Arina Puzriakova edited their review of gene: RHOBTB2: Changed rating: GREEN
Fetal anomalies v6.150 RBBP5 Arina Puzriakova edited their review of gene: RBBP5: Changed rating: GREEN
Fetal anomalies v6.150 RALGAPA1 Arina Puzriakova edited their review of gene: RALGAPA1: Changed rating: GREEN
Fetal anomalies v6.150 RALA Arina Puzriakova edited their review of gene: RALA: Changed rating: GREEN
Fetal anomalies v6.150 PRKCI Arina Puzriakova edited their review of gene: PRKCI: Changed rating: GREEN
Fetal anomalies v6.150 PPP1R21 Arina Puzriakova edited their review of gene: PPP1R21: Changed rating: GREEN
Fetal anomalies v6.150 PLXNA1 Arina Puzriakova edited their review of gene: PLXNA1: Changed rating: GREEN
Fetal anomalies v6.150 PIGU Arina Puzriakova edited their review of gene: PIGU: Changed rating: GREEN
Fetal anomalies v6.150 PIGK Arina Puzriakova edited their review of gene: PIGK: Changed rating: GREEN
Fetal anomalies v6.150 PIGB Arina Puzriakova edited their review of gene: PIGB: Changed rating: GREEN
Fetal anomalies v6.150 PDIA6 Arina Puzriakova edited their review of gene: PDIA6: Changed rating: GREEN
Fetal anomalies v6.150 NUP133 Arina Puzriakova edited their review of gene: NUP133: Changed rating: GREEN
Fetal anomalies v6.150 NR6A1 Arina Puzriakova edited their review of gene: NR6A1: Changed rating: GREEN
Fetal anomalies v6.150 MYLPF Arina Puzriakova edited their review of gene: MYLPF: Changed rating: GREEN
Fetal anomalies v6.150 LSM1 Arina Puzriakova edited their review of gene: LSM1: Changed rating: GREEN
Fetal anomalies v6.150 LRRC32 Arina Puzriakova edited their review of gene: LRRC32: Changed rating: GREEN
Fetal anomalies v6.150 LMOD2 Arina Puzriakova edited their review of gene: LMOD2: Changed rating: GREEN
Fetal anomalies v6.150 LEF1 Arina Puzriakova edited their review of gene: LEF1: Changed rating: GREEN
Fetal anomalies v6.150 KDM4B Arina Puzriakova edited their review of gene: KDM4B: Changed rating: GREEN
Fetal anomalies v6.150 INPP4A Arina Puzriakova edited their review of gene: INPP4A: Changed rating: GREEN
Fetal anomalies v6.150 IL6ST Arina Puzriakova edited their review of gene: IL6ST: Changed rating: GREEN
Fetal anomalies v6.150 IFT57 Arina Puzriakova edited their review of gene: IFT57: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPR Arina Puzriakova edited their review of gene: HNRNPR: Changed rating: GREEN
Fetal anomalies v6.150 HNRNPH1 Arina Puzriakova edited their review of gene: HNRNPH1: Changed rating: GREEN
Fetal anomalies v6.150 HERC2 Arina Puzriakova edited their review of gene: HERC2: Changed rating: GREEN
Fetal anomalies v6.150 H3F3B Arina Puzriakova edited their review of gene: H3F3B: Changed rating: GREEN
Fetal anomalies v6.150 GTF3C3 Arina Puzriakova edited their review of gene: GTF3C3: Changed rating: GREEN
Fetal anomalies v6.150 GON7 Arina Puzriakova edited their review of gene: GON7: Changed rating: GREEN
Fetal anomalies v6.150 GINS3 Arina Puzriakova edited their review of gene: GINS3: Changed rating: GREEN
Fetal anomalies v6.150 FGF4 Arina Puzriakova edited their review of gene: FGF4: Changed rating: GREEN
Fetal anomalies v6.150 FEM1B Arina Puzriakova edited their review of gene: FEM1B: Changed rating: GREEN
Fetal anomalies v6.150 FBXW7 Arina Puzriakova edited their review of gene: FBXW7: Changed rating: GREEN
Fetal anomalies v6.150 FBXO28 Arina Puzriakova edited their review of gene: FBXO28: Changed rating: GREEN
Fetal anomalies v6.150 EMC10 Arina Puzriakova edited their review of gene: EMC10: Changed rating: GREEN
Fetal anomalies v6.150 EIF4A2 Arina Puzriakova edited their review of gene: EIF4A2: Changed rating: GREEN
Fetal anomalies v6.150 DPH5 Arina Puzriakova edited their review of gene: DPH5: Changed rating: GREEN
Fetal anomalies v6.150 DOT1L Arina Puzriakova edited their review of gene: DOT1L: Changed rating: GREEN
Fetal anomalies v6.150 CSDE1 Arina Puzriakova edited their review of gene: CSDE1: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKA Arina Puzriakova edited their review of gene: CLCNKA: Changed rating: GREEN
Fetal anomalies v6.150 CLCN3 Arina Puzriakova edited their review of gene: CLCN3: Changed rating: GREEN
Fetal anomalies v6.150 CEP76 Arina Puzriakova edited their review of gene: CEP76: Changed rating: GREEN
Fetal anomalies v6.150 CDC42BPB Arina Puzriakova edited their review of gene: CDC42BPB: Changed rating: GREEN
Fetal anomalies v6.150 CDC42 Arina Puzriakova edited their review of gene: CDC42: Changed rating: GREEN
Fetal anomalies v6.150 CCDC88A Arina Puzriakova edited their review of gene: CCDC88A: Changed rating: GREEN
Fetal anomalies v6.150 CCDC32 Arina Puzriakova edited their review of gene: CCDC32: Changed rating: GREEN
Fetal anomalies v6.150 CBFB Arina Puzriakova edited their review of gene: CBFB: Changed rating: GREEN
Fetal anomalies v6.150 CAMSAP1 Arina Puzriakova edited their review of gene: CAMSAP1: Changed rating: GREEN
Fetal anomalies v6.150 BRF2 Arina Puzriakova edited their review of gene: BRF2: Changed rating: GREEN
Fetal anomalies v6.150 BBIP1 Arina Puzriakova edited their review of gene: BBIP1: Changed rating: GREEN
Fetal anomalies v6.150 ARF3 Arina Puzriakova edited their review of gene: ARF3: Changed rating: GREEN
Fetal anomalies v6.150 ADAT3 Arina Puzriakova edited their review of gene: ADAT3: Changed rating: GREEN
Fetal anomalies v6.150 ABI2 Arina Puzriakova edited their review of gene: ABI2: Changed rating: GREEN
Fetal anomalies v6.150 YRDC Arina Puzriakova edited their review of gene: YRDC: Changed rating: GREEN
Fetal anomalies v6.150 WSB2 Arina Puzriakova edited their review of gene: WSB2: Changed rating: GREEN
Fetal anomalies v6.150 WDR91 Arina Puzriakova edited their review of gene: WDR91: Changed rating: GREEN
Fetal anomalies v6.150 TUBGCP2 Arina Puzriakova edited their review of gene: TUBGCP2: Changed rating: GREEN
Fetal anomalies v6.150 TRIO Arina Puzriakova edited their review of gene: TRIO: Changed rating: GREEN
Fetal anomalies v6.150 SHROOM4 Arina Puzriakova edited their review of gene: SHROOM4: Changed rating: GREEN
Fetal anomalies v6.150 SELENON Arina Puzriakova edited their review of gene: SELENON: Changed rating: GREEN
Fetal anomalies v6.150 PDCD2 Arina Puzriakova edited their review of gene: PDCD2: Changed rating: GREEN
Fetal anomalies v6.150 NOVA2 Arina Puzriakova edited their review of gene: NOVA2: Changed rating: GREEN
Fetal anomalies v6.150 MAST1 Arina Puzriakova edited their review of gene: MAST1: Changed rating: GREEN
Fetal anomalies v6.150 MAPK8IP3 Arina Puzriakova edited their review of gene: MAPK8IP3: Changed rating: GREEN
Fetal anomalies v6.150 KIAA0556 Arina Puzriakova edited their review of gene: KIAA0556: Changed rating: GREEN
Fetal anomalies v6.150 KCNJ8 Arina Puzriakova edited their review of gene: KCNJ8: Changed rating: GREEN
Fetal anomalies v6.150 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: Changed rating: GREEN
Fetal anomalies v6.150 GPKOW Arina Puzriakova edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.150 GATAD2B Arina Puzriakova edited their review of gene: GATAD2B: Changed rating: GREEN
Fetal anomalies v6.150 FOXI3 Arina Puzriakova edited their review of gene: FOXI3: Changed rating: GREEN
Fetal anomalies v6.150 CLCNKB Arina Puzriakova edited their review of gene: CLCNKB: Changed rating: GREEN
Fetal anomalies v6.150 CACHD1 Arina Puzriakova edited their review of gene: CACHD1: Changed rating: GREEN
Fetal anomalies v6.150 BRF1 Arina Puzriakova edited their review of gene: BRF1: Changed rating: GREEN
Fetal anomalies v6.150 B9D1 Arina Puzriakova edited their review of gene: B9D1: Changed rating: GREEN
Fetal anomalies v6.150 ASXL2 Arina Puzriakova edited their review of gene: ASXL2: Changed rating: GREEN
Fetal anomalies v6.150 ANKLE2 Arina Puzriakova edited their review of gene: ANKLE2: Changed rating: GREEN
Fetal anomalies v6.150 ACVR1 Arina Puzriakova edited their review of gene: ACVR1: Changed rating: GREEN
Fetal anomalies v6.149 SGCG Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR2B Arina Puzriakova commented on gene: ACVR2B: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
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 v6.149 YRDC Arina Puzriakova commented on gene: YRDC: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WSB2 Arina Puzriakova commented on gene: WSB2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 WDR91 Arina Puzriakova commented on gene: WDR91: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TUBGCP2 Arina Puzriakova commented on gene: TUBGCP2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 TRIO Arina Puzriakova commented on gene: TRIO: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SNAPIN Arina Puzriakova commented on gene: SNAPIN: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 SELENON Arina Puzriakova commented on gene: SELENON: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PTBP1 Arina Puzriakova commented on gene: PTBP1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 PDCD2 Arina Puzriakova commented on gene: PDCD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NSD2 Arina Puzriakova commented on gene: NSD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 NOVA2 Arina Puzriakova commented on gene: NOVA2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MNS1 Arina Puzriakova commented on gene: MNS1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAST1 Arina Puzriakova commented on gene: MAST1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 MAPK8IP3 Arina Puzriakova commented on gene: MAPK8IP3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 KCNJ8 Arina Puzriakova commented on gene: KCNJ8: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 HMGB1 Arina Puzriakova commented on gene: HMGB1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GPKOW Arina Puzriakova commented on gene: GPKOW: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 GATAD2B Arina Puzriakova commented on gene: GATAD2B: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 FOXI3 Arina Puzriakova commented on gene: FOXI3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CLCNKB Arina Puzriakova commented on gene: CLCNKB: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 CACHD1 Arina Puzriakova commented on gene: CACHD1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 BRF1 Arina Puzriakova commented on gene: BRF1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 B9D1 Arina Puzriakova commented on gene: B9D1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ASXL2 Arina Puzriakova commented on gene: ASXL2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ANKLE2 Arina Puzriakova commented on gene: ANKLE2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.149 ACVR1 Arina Puzriakova commented on gene: ACVR1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 ZPR1 Arina Puzriakova commented on gene: ZPR1
Fetal anomalies v6.148 ZNF668 Arina Puzriakova commented on gene: ZNF668
Fetal anomalies v6.148 ZDHHC9 Arina Puzriakova commented on gene: ZDHHC9
Fetal anomalies v6.148 ZBTB7A Arina Puzriakova commented on gene: ZBTB7A
Fetal anomalies v6.148 YY1AP1 Arina Puzriakova commented on gene: YY1AP1
Fetal anomalies v6.148 YWHAE Arina Puzriakova commented on gene: YWHAE
Fetal anomalies v6.148 YRDC Arina Puzriakova commented on gene: YRDC
Fetal anomalies v6.148 WSB2 Arina Puzriakova commented on gene: WSB2
Fetal anomalies v6.148 WNK3 Arina Puzriakova commented on gene: WNK3
Fetal anomalies v6.148 WDR91 Arina Puzriakova commented on gene: WDR91: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 WDR11 Arina Puzriakova commented on gene: WDR11
Fetal anomalies v6.148 WASHC3 Arina Puzriakova commented on gene: WASHC3
Fetal anomalies v6.148 VPS51 Arina Puzriakova commented on gene: VPS51
Fetal anomalies v6.148 VPS50 Arina Puzriakova commented on gene: VPS50
Fetal anomalies v6.148 VPS33A Arina Puzriakova commented on gene: VPS33A
Fetal anomalies v6.148 UGGT1 Arina Puzriakova commented on gene: UGGT1
Fetal anomalies v6.148 TUBGCP2 Arina Puzriakova commented on gene: TUBGCP2
Fetal anomalies v6.148 TTC26 Arina Puzriakova commented on gene: TTC26
Fetal anomalies v6.148 TRPM4 Arina Puzriakova commented on gene: TRPM4
Fetal anomalies v6.148 TRIO Arina Puzriakova commented on gene: TRIO
Fetal anomalies v6.148 TPRKB Arina Puzriakova commented on gene: TPRKB
Fetal anomalies v6.148 TP53RK Arina Puzriakova commented on gene: TP53RK
Fetal anomalies v6.148 TMPRSS7 Arina Puzriakova commented on gene: TMPRSS7
Fetal anomalies v6.148 TMEM263 Arina Puzriakova commented on gene: TMEM263
Fetal anomalies v6.148 TMEM251 Arina Puzriakova commented on gene: TMEM251
Fetal anomalies v6.148 TMEM17 Arina Puzriakova commented on gene: TMEM17
Fetal anomalies v6.148 TMEM167A Arina Puzriakova commented on gene: TMEM167A
Fetal anomalies v6.148 THUMPD1 Arina Puzriakova commented on gene: THUMPD1
Fetal anomalies v6.148 TH Arina Puzriakova commented on gene: TH
Fetal anomalies v6.148 TEK Arina Puzriakova commented on gene: TEK
Fetal anomalies v6.148 TASP1 Arina Puzriakova commented on gene: TASP1
Fetal anomalies v6.148 TAF13 Arina Puzriakova commented on gene: TAF13
Fetal anomalies v6.148 SPTBN1 Arina Puzriakova commented on gene: SPTBN1
Fetal anomalies v6.148 SPOP Arina Puzriakova commented on gene: SPOP
Fetal anomalies v6.148 SOX4 Arina Puzriakova commented on gene: SOX4
Fetal anomalies v6.148 SNAPIN Arina Puzriakova commented on gene: SNAPIN: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SMG8 Arina Puzriakova commented on gene: SMG8
Fetal anomalies v6.148 SMC5 Arina Puzriakova commented on gene: SMC5
Fetal anomalies v6.148 SMARCC2 Arina Puzriakova commented on gene: SMARCC2
Fetal anomalies v6.148 SMAD5 Arina Puzriakova commented on gene: SMAD5
Fetal anomalies v6.148 SLF2 Arina Puzriakova commented on gene: SLF2
Fetal anomalies v6.148 SLC9A6 Arina Puzriakova commented on gene: SLC9A6
Fetal anomalies v6.148 SLC5A6 Arina Puzriakova commented on gene: SLC5A6
Fetal anomalies v6.148 SLC13A1 Arina Puzriakova commented on gene: SLC13A1
Fetal anomalies v6.148 SKOR2 Arina Puzriakova commented on gene: SKOR2
Fetal anomalies v6.148 SIX2 Arina Puzriakova commented on gene: SIX2
Fetal anomalies v6.148 SIX1 Arina Puzriakova commented on gene: SIX1
Fetal anomalies v6.148 SHROOM4 Arina Puzriakova commented on gene: SHROOM4: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SGCG Arina Puzriakova commented on gene: SGCG: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 SGCD Arina Puzriakova commented on gene: SGCD
Fetal anomalies v6.148 SGCB Arina Puzriakova commented on gene: SGCB
Fetal anomalies v6.148 SGCA Arina Puzriakova commented on gene: SGCA
Fetal anomalies v6.148 SF1 Arina Puzriakova commented on gene: SF1
Fetal anomalies v6.148 SEPHS1 Arina Puzriakova commented on gene: SEPHS1
Fetal anomalies v6.148 SELENON Arina Puzriakova commented on gene: SELENON
Fetal anomalies v6.148 SCNM1 Arina Puzriakova commented on gene: SCNM1
Fetal anomalies v6.148 SATB1 Arina Puzriakova commented on gene: SATB1
Fetal anomalies v6.148 SART3 Arina Puzriakova commented on gene: SART3
Fetal anomalies v6.148 RSG1 Arina Puzriakova commented on gene: RSG1
Fetal anomalies v6.148 RREB1 Arina Puzriakova commented on gene: RREB1
Fetal anomalies v6.148 ROBO4 Arina Puzriakova commented on gene: ROBO4
Fetal anomalies v6.148 RNU7-1 Arina Puzriakova commented on gene: RNU7-1
Fetal anomalies v6.148 RNU5A-1 Arina Puzriakova commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 RNU2-2P Arina Puzriakova commented on gene: RNU2-2P
Fetal anomalies v6.148 RNPC3 Arina Puzriakova commented on gene: RNPC3
Fetal anomalies v6.148 RNF13 Arina Puzriakova commented on gene: RNF13
Fetal anomalies v6.148 RHOBTB2 Arina Puzriakova commented on gene: RHOBTB2
Fetal anomalies v6.148 RBBP5 Arina Puzriakova commented on gene: RBBP5
Fetal anomalies v6.148 RASA2 Arina Puzriakova commented on gene: RASA2
Fetal anomalies v6.148 RALGAPA1 Arina Puzriakova commented on gene: RALGAPA1
Fetal anomalies v6.148 RALA Arina Puzriakova commented on gene: RALA
Fetal anomalies v6.148 RAD51C Arina Puzriakova commented on gene: RAD51C
Fetal anomalies v6.148 RAB35 Arina Puzriakova commented on gene: RAB35
Fetal anomalies v6.148 PURA Arina Puzriakova commented on gene: PURA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PTBP1 Arina Puzriakova commented on gene: PTBP1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PRKCI Arina Puzriakova commented on gene: PRKCI
Fetal anomalies v6.148 PRDM13 Arina Puzriakova commented on gene: PRDM13: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PPP1R21 Arina Puzriakova commented on gene: PPP1R21
Fetal anomalies v6.148 PPP1R13L Arina Puzriakova commented on gene: PPP1R13L
Fetal anomalies v6.148 PPP1R12A Arina Puzriakova commented on gene: PPP1R12A: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 POLA1 Arina Puzriakova commented on gene: POLA1
Fetal anomalies v6.148 PMS2 Arina Puzriakova commented on gene: PMS2
Fetal anomalies v6.148 PLXNB3 Arina Puzriakova commented on gene: PLXNB3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PLXNB2 Arina Puzriakova commented on gene: PLXNB2
Fetal anomalies v6.148 PLXNA1 Arina Puzriakova commented on gene: PLXNA1
Fetal anomalies v6.148 PLOD3 Arina Puzriakova commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PIGU Arina Puzriakova commented on gene: PIGU
Fetal anomalies v6.148 PIGK Arina Puzriakova commented on gene: PIGK
Fetal anomalies v6.148 PIGB Arina Puzriakova commented on gene: PIGB
Fetal anomalies v6.148 PDIA6 Arina Puzriakova commented on gene: PDIA6
Fetal anomalies v6.148 PDCD6IP Arina Puzriakova commented on gene: PDCD6IP
Fetal anomalies v6.148 PDCD2 Arina Puzriakova commented on gene: PDCD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PCLO Arina Puzriakova commented on gene: PCLO: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PATJ Arina Puzriakova commented on gene: PATJ: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 PACSIN3 Arina Puzriakova commented on gene: PACSIN3
Fetal anomalies v6.148 NUP133 Arina Puzriakova commented on gene: NUP133
Fetal anomalies v6.148 NUDCD2 Arina Puzriakova commented on gene: NUDCD2
Fetal anomalies v6.148 NSD2 Arina Puzriakova commented on gene: NSD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 NR6A1 Arina Puzriakova commented on gene: NR6A1
Fetal anomalies v6.148 NOVA2 Arina Puzriakova commented on gene: NOVA2
Fetal anomalies v6.148 NOTCH3 Arina Puzriakova commented on gene: NOTCH3
Fetal anomalies v6.148 MYLPF Arina Puzriakova commented on gene: MYLPF
Fetal anomalies v6.148 MSH6 Arina Puzriakova commented on gene: MSH6
Fetal anomalies v6.148 MSH2 Arina Puzriakova commented on gene: MSH2
Fetal anomalies v6.148 MNS1 Arina Puzriakova commented on gene: MNS1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 MMP9 Arina Puzriakova commented on gene: MMP9
Fetal anomalies v6.148 MLH1 Arina Puzriakova commented on gene: MLH1
Fetal anomalies v6.148 MAST1 Arina Puzriakova commented on gene: MAST1
Fetal anomalies v6.148 MAPK8IP3 Arina Puzriakova commented on gene: MAPK8IP3
Fetal anomalies v6.148 LSM1 Arina Puzriakova commented on gene: LSM1
Fetal anomalies v6.148 LRRC32 Arina Puzriakova commented on gene: LRRC32
Fetal anomalies v6.148 LMOD2 Arina Puzriakova commented on gene: LMOD2
Fetal anomalies v6.148 LINC01578 Arina Puzriakova commented on gene: LINC01578: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 LHX2 Arina Puzriakova commented on gene: LHX2
Fetal anomalies v6.148 LEF1 Arina Puzriakova commented on gene: LEF1
Fetal anomalies v6.148 LDB3 Arina Puzriakova commented on gene: LDB3
Fetal anomalies v6.148 KIAA0556 Arina Puzriakova commented on gene: KIAA0556: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 KDM4B Arina Puzriakova commented on gene: KDM4B
Fetal anomalies v6.148 KCNQ5 Arina Puzriakova commented on gene: KCNQ5
Fetal anomalies v6.148 KCNN4 Arina Puzriakova commented on gene: KCNN4
Fetal anomalies v6.148 KCNJ8 Arina Puzriakova commented on gene: KCNJ8
Fetal anomalies v6.148 INPP4A Arina Puzriakova commented on gene: INPP4A
Fetal anomalies v6.148 IL6ST Arina Puzriakova commented on gene: IL6ST
Fetal anomalies v6.148 IKZF2 Arina Puzriakova commented on gene: IKZF2
Fetal anomalies v6.148 IFT57 Arina Puzriakova commented on gene: IFT57
Fetal anomalies v6.148 HNRNPR Arina Puzriakova commented on gene: HNRNPR
Fetal anomalies v6.148 HNRNPH1 Arina Puzriakova commented on gene: HNRNPH1
Fetal anomalies v6.148 HMGB1 Arina Puzriakova commented on gene: HMGB1
Fetal anomalies v6.148 HEY2 Arina Puzriakova commented on gene: HEY2
Fetal anomalies v6.148 HERC2 Arina Puzriakova commented on gene: HERC2
Fetal anomalies v6.148 HDAC2 Arina Puzriakova commented on gene: HDAC2
Fetal anomalies v6.148 HACD1 Arina Puzriakova commented on gene: HACD1
Fetal anomalies v6.148 H3F3B Arina Puzriakova commented on gene: H3F3B
Fetal anomalies v6.148 GTF3C3 Arina Puzriakova commented on gene: GTF3C3
Fetal anomalies v6.148 GPKOW Arina Puzriakova commented on gene: GPKOW
Fetal anomalies v6.148 GON7 Arina Puzriakova commented on gene: GON7
Fetal anomalies v6.148 GNPNAT1 Arina Puzriakova commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 GINS3 Arina Puzriakova commented on gene: GINS3
Fetal anomalies v6.148 GATAD2B Arina Puzriakova commented on gene: GATAD2B
Fetal anomalies v6.148 FOXI3 Arina Puzriakova commented on gene: FOXI3
Fetal anomalies v6.148 FIBP Arina Puzriakova commented on gene: FIBP
Fetal anomalies v6.148 FGF4 Arina Puzriakova commented on gene: FGF4
Fetal anomalies v6.148 FEM1B Arina Puzriakova commented on gene: FEM1B
Fetal anomalies v6.148 FBXW7 Arina Puzriakova commented on gene: FBXW7
Fetal anomalies v6.148 FBXO28 Arina Puzriakova commented on gene: FBXO28
Fetal anomalies v6.148 FBXO11 Arina Puzriakova commented on gene: FBXO11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC9 Arina Puzriakova commented on gene: EXOSC9: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 EXOSC1 Arina Puzriakova commented on gene: EXOSC1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ETV2 Arina Puzriakova commented on gene: ETV2
Fetal anomalies v6.148 ENPP5 Arina Puzriakova commented on gene: ENPP5
Fetal anomalies v6.148 EMC10 Arina Puzriakova commented on gene: EMC10
Fetal anomalies v6.148 ELFN1 Arina Puzriakova commented on gene: ELFN1
Fetal anomalies v6.148 EIF4A2 Arina Puzriakova commented on gene: EIF4A2
Fetal anomalies v6.148 EDN1 Arina Puzriakova commented on gene: EDN1
Fetal anomalies v6.148 EDA Arina Puzriakova commented on gene: EDA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 DPH5 Arina Puzriakova commented on gene: DPH5
Fetal anomalies v6.148 DOT1L Arina Puzriakova commented on gene: DOT1L
Fetal anomalies v6.148 DNAH14 Arina Puzriakova commented on gene: DNAH14
Fetal anomalies v6.148 DLG3 Arina Puzriakova commented on gene: DLG3
Fetal anomalies v6.148 DIP2C Arina Puzriakova commented on gene: DIP2C
Fetal anomalies v6.148 DHX37 Arina Puzriakova commented on gene: DHX37: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 DHRS3 Arina Puzriakova commented on gene: DHRS3
Fetal anomalies v6.148 DHPS Arina Puzriakova commented on gene: DHPS
Fetal anomalies v6.148 DDX23 Arina Puzriakova commented on gene: DDX23
Fetal anomalies v6.148 DDR1 Arina Puzriakova commented on gene: DDR1
Fetal anomalies v6.148 CSDE1 Arina Puzriakova commented on gene: CSDE1
Fetal anomalies v6.148 CRELD1 Arina Puzriakova commented on gene: CRELD1
Fetal anomalies v6.148 CPOX Arina Puzriakova commented on gene: CPOX
Fetal anomalies v6.148 CLCNKB Arina Puzriakova commented on gene: CLCNKB
Fetal anomalies v6.148 CLCNKA Arina Puzriakova commented on gene: CLCNKA
Fetal anomalies v6.148 CLCN3 Arina Puzriakova commented on gene: CLCN3
Fetal anomalies v6.148 CHD8 Arina Puzriakova commented on gene: CHD8
Fetal anomalies v6.148 CEP76 Arina Puzriakova commented on gene: CEP76
Fetal anomalies v6.148 CEP162 Arina Puzriakova commented on gene: CEP162
Fetal anomalies v6.148 CDX1 Arina Puzriakova commented on gene: CDX1
Fetal anomalies v6.148 CDH11 Arina Puzriakova commented on gene: CDH11: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CDC42BPB Arina Puzriakova commented on gene: CDC42BPB
Fetal anomalies v6.148 CDC42 Arina Puzriakova commented on gene: CDC42
Fetal anomalies v6.148 CDC40 Arina Puzriakova commented on gene: CDC40: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCT8 Arina Puzriakova commented on gene: CCT8: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCP110 Arina Puzriakova commented on gene: CCP110: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 CCM2L Arina Puzriakova commented on gene: CCM2L
Fetal anomalies v6.148 CCDC88A Arina Puzriakova commented on gene: CCDC88A
Fetal anomalies v6.148 CCDC32 Arina Puzriakova commented on gene: CCDC32
Fetal anomalies v6.148 CBFB Arina Puzriakova commented on gene: CBFB
Fetal anomalies v6.148 CAMSAP1 Arina Puzriakova commented on gene: CAMSAP1
Fetal anomalies v6.148 CACHD1 Arina Puzriakova commented on gene: CACHD1
Fetal anomalies v6.148 BUB1 Arina Puzriakova commented on gene: BUB1
Fetal anomalies v6.148 BRWD3 Arina Puzriakova commented on gene: BRWD3
Fetal anomalies v6.148 BRF2 Arina Puzriakova commented on gene: BRF2
Fetal anomalies v6.148 BRF1 Arina Puzriakova commented on gene: BRF1
Fetal anomalies v6.148 BNIP1 Arina Puzriakova commented on gene: BNIP1
Fetal anomalies v6.148 BBIP1 Arina Puzriakova commented on gene: BBIP1
Fetal anomalies v6.148 BAZ2B Arina Puzriakova commented on gene: BAZ2B
Fetal anomalies v6.148 B9D1 Arina Puzriakova commented on gene: B9D1: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ATP6V0A1 Arina Puzriakova commented on gene: ATP6V0A1
Fetal anomalies v6.148 ASXL2 Arina Puzriakova commented on gene: ASXL2
Fetal anomalies v6.148 ARHGEF40 Arina Puzriakova commented on gene: ARHGEF40
Fetal anomalies v6.148 ARHGEF17 Arina Puzriakova commented on gene: ARHGEF17: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.148 ARF3 Arina Puzriakova commented on gene: ARF3
Fetal anomalies v6.148 ARAF Arina Puzriakova commented on gene: ARAF
Fetal anomalies v6.148 ANKRD17 Arina Puzriakova commented on gene: ANKRD17
Fetal anomalies v6.148 ANKLE2 Arina Puzriakova commented on gene: ANKLE2
Fetal anomalies v6.148 AMOT Arina Puzriakova commented on gene: AMOT
Fetal anomalies v6.148 ALKBH8 Arina Puzriakova commented on gene: ALKBH8
Fetal anomalies v6.148 AIMP2 Arina Puzriakova commented on gene: AIMP2
Fetal anomalies v6.148 AIMP1 Arina Puzriakova commented on gene: AIMP1
Fetal anomalies v6.148 ADAT3 Arina Puzriakova commented on gene: ADAT3
Fetal anomalies v6.148 ADAMTS9 Arina Puzriakova commented on gene: ADAMTS9
Fetal anomalies v6.148 ADAMTS13 Arina Puzriakova commented on gene: ADAMTS13
Fetal anomalies v6.148 ACVR2B Arina Puzriakova commented on gene: ACVR2B
Fetal anomalies v6.148 ACVR1 Arina Puzriakova commented on gene: ACVR1
Fetal anomalies v6.148 ABI2 Arina Puzriakova commented on gene: ABI2
Fetal anomalies v6.147 ZPR1 Soo-Mi Park reviewed gene: ZPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29851065, 40776660; Phenotypes: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZNF668 Soo-Mi Park reviewed gene: ZNF668: Rating: GREEN; Mode of pathogenicity: ; Publications: 34313816; Phenotypes: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ZDHHC9 Vicki Harrison reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ZBTB7A Soo-Mi Park reviewed gene: ZBTB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34515416; Phenotypes: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YY1AP1 Soo-Mi Park reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939641, 31270375, 37698238, 31633303, 30556293, 37323195; Phenotypes: Grange syndrome, OMIM:602531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 YWHAE Elizabeth Scotchman reviewed gene: YWHAE: Rating: AMBER; Mode of pathogenicity: ; Publications: 29458882, 36433683, 36999555, 28542865; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 YRDC Natalie Canham reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 34545459, 31481669; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WSB2 Natalie Chandler reviewed gene: WSB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40374945; Phenotypes: neurodevelopmental delay, dysmorphic features, brain structural abnormalities, growth restriction, hypotonia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WNK3 Soo-Mi Park reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35678782; Phenotypes: Prieto syndrome, OMIM:309610; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 WDR91 Natalie Chandler reviewed gene: WDR91: Rating: GREEN; Mode of pathogenicity: ; Publications: 40550703; Phenotypes: microcephaly, dysmorphic features, organomegaly, psychomotor delay, hypotonia, sensorineural hearing impairment, visual impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WDR11 Tessa Homfray reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: ; Publications: 34413497; Phenotypes: Intellectual developmental disorder, autosomal recessive 78, OMIM:620237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 WASHC3 Tessa Homfray reviewed gene: WASHC3: Rating: RED; Mode of pathogenicity: ; Publications: 40129681; Phenotypes: short stature, distinctive facies, and neurodevelopmental abnormalities; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS51 Tessa Homfray reviewed gene: VPS51: Rating: GREEN; Mode of pathogenicity: ; Publications: 31207318, 30624672, 40565173, 40176246; Phenotypes: Pontocerebellar hypoplasia, type 13, OMIM:618606; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS50 Tessa Homfray reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: ; Publications: 38876772, 34037727; Phenotypes: neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 VPS33A Tessa Homfray reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37628632, 36232726, 28013294; Phenotypes: Mucopolysaccharidosis-plus syndrome, OMIM:617303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 UGGT1 Tessa Homfray reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40267907; Phenotypes: Congenital disorder of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TUBGCP2 Tessa Homfray reviewed gene: TUBGCP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40017707, 40448381, 33458610, 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TTC26 Natalie Chandler reviewed gene: TTC26: Rating: GREEN; Mode of pathogenicity: ; Publications: 32617964, 24596149, 22718903, 31595528, 34177428; Phenotypes: Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TRPM4 Anna de Burca reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 40896669; Phenotypes: Progressive familial heart block, type IB, OMIM:604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TRIO Vicki Harrison reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825, Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TPRKB Natalie Canham reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 38628357; Phenotypes: Galloway-Mowat syndrome 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TP53RK Natalie Canham reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30053862, 28805828, 38628357, 36116039, 36873107; Phenotypes: Galloway-Mowat syndrome 4, OMIM:617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMPRSS7 Soo-Mi Park reviewed gene: TMPRSS7: Rating: AMBER; Mode of pathogenicity: ; Publications: 40796295; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM263 Samantha Doyle reviewed gene: TMEM263: Rating: AMBER; Mode of pathogenicity: ; Publications: 29930570, 34238371, 38241182; Phenotypes: skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM251 Samantha Doyle reviewed gene: TMEM251: Rating: GREEN; Mode of pathogenicity: ; Publications: 40171858, 33252156; Phenotypes: Dysostosis multiplex, Ain-Naz type, OMIM:619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM17 Natalie Chandler reviewed gene: TMEM17: Rating: GREEN; Mode of pathogenicity: ; Publications: 40841990; Phenotypes: Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TMEM167A Natalie Chandler reviewed gene: TMEM167A: Rating: GREEN; Mode of pathogenicity: ; Publications: 40924476; Phenotypes: Microcephaly, epilepsy and diabetes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 THUMPD1 Natalie Canham reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35196516; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TH Natalie Canham reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: 40967340; Phenotypes: Segawa syndrome, recessive, OMIM:605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TEK Sarah Graham reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555671, 19888299; Phenotypes: Venous malformations, multiple cutaneous and mucosal, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 TASP1 Natalie Canham reviewed gene: TASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31350873, 35512351, 37474017, 31209944, 29633245; Phenotypes: Suleiman-El-Hattab syndrome, OMIM:618950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 TAF13 Vicki Harrison reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 28257693, 40679298; Phenotypes: Intellectual developmental disorder, autosomal recessive 60, OMIM:617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SPTBN1 Vicki Harrison reviewed gene: SPTBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40869952; Phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, OMIM:619475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SPOP Natalie Canham reviewed gene: SPOP: Rating: AMBER; Mode of pathogenicity: ; Publications: 36063898, 40304391, 32109420, 39918173, 36259278; Phenotypes: Nabais Sa-de Vries syndrome, type 1, OMIM:618828, Nabais Sa-de Vries syndrome, type 2, OMIM:618829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SOX4 Natalie Canham reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 35232796, 36834931, 34750527, 38684576, 30661772; Phenotypes: Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SNAPIN Arina Puzriakova reviewed gene: SNAPIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40930097, 26539891; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMG8 Samantha Doyle reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242396, 34761517, 37194129; Phenotypes: Alzahrani-Kuwahara syndrome, OMIM:619268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMC5 Samantha Doyle reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 2, OMIM:620185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SMARCC2 Samantha Doyle reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35796094, 35241061, 39901255, 37551667, 38117302, 40697538; Phenotypes: Coffin-Siris syndrome 8, OMIM:618362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SMAD5 Natalie Chandler reviewed gene: SMAD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40619738; Phenotypes: congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SLF2 Samantha Doyle reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36333305; Phenotypes: Atelis syndrome 1, OMIM:620184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC9A6 Vicki Harrison reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Christianson type, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SLC5A6 Samantha Doyle reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40272030; Phenotypes: Sodium-dependent multivitamin transporter deficiency, OMIM:618973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SLC13A1 Samantha Doyle reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39925707; Phenotypes: short stature, scoliosis, and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SKOR2 Anna de Burca reviewed gene: SKOR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40890458; Phenotypes: Cerebellar hypoplasia, neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SIX2 Samantha Doyle reviewed gene: SIX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27383657, 32506814, 29315086, 26581443; Phenotypes: frontonasal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SIX1 Samantha Doyle reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: 37795857; Phenotypes: Branchiootic syndrome 3, OMIM:608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SHROOM4 Vicki Harrison reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 36379543, 32565546; Phenotypes: congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 SGCG Vicki Harrison reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCD Vicki Harrison reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, OMIM:601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCB Vicki Harrison reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4, OMIM:604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SGCA Vicki Harrison reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SF1 Natalie Canham reviewed gene: SF1: Rating: RED; Mode of pathogenicity: ; Publications: 40987292; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SEPHS1 Beth Young reviewed gene: SEPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38531365; Phenotypes: Ververi-Brady syndrome 2, OMIM:621325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SELENON Samantha Doyle reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 40159620, 37739444, 32864802; Phenotypes: OMIM:602771, Congenital myopathy 3 with rigid spine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SCNM1 Natalie Chandler reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: Orofaciodigital syndrome XIX, OMIM:620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 SATB1 Samantha Doyle reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38790177, 33513338, 36120649; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, OMIM:619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 SART3 Samantha Doyle reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: ; Publications: 37296101; Phenotypes: Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RSG1 Natalie Chandler reviewed gene: RSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40593758; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RREB1 Natalie Chandler reviewed gene: RREB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40418122; Phenotypes: Rasopathy, mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ROBO4 Samantha Doyle reviewed gene: ROBO4: Rating: RED; Mode of pathogenicity: ; Publications: 36855159, 30455415; Phenotypes: Aortic valve disease 3, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU7-1 Esther Kinning reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39031459, 35320431, 39332260, 33230297, 39748568; Phenotypes: Aicardi-Goutieres syndrome 9 OMIM:619487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNU5A-1 Esther Kinning reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RNU2-2P Soo-Mi Park reviewed gene: RNU2-2P: Rating: AMBER; Mode of pathogenicity: ; Publications: 40950445, 40909831, 40442284, 40210679; Phenotypes: neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 RNPC3 Esther Kinning reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 35792517, 32462814, 34906446, 33650182; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RNF13 Samantha Doyle reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: 30595371, 37668308; Phenotypes: Developmental and epileptic encephalopathy 73, OMIM:618379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RHOBTB2 Soo-Mi Park reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40329844, 29768694, 39831600, 33504645, 37165955, 29276004, 37982109; Phenotypes: Developmental and epileptic encephalopathy 64, OMIM:618004; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 RBBP5 Soo-Mi Park reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 39036895; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RASA2 Esther Kinning reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25049390; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RALGAPA1 Soo-Mi Park reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447, 19733229; Phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, OMIM:618797; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 RALA Soo-Mi Park reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39918382, 30761613, 41123801, 30500825; Phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, OMIM:619311; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 RAD51C Natalie Chandler edited their review of gene: RAD51C: Added comment: Amber on UK fanconi panel. Green review on radial dysplasia case (from Aus). Green on all relevant Aus panels including fetal. Two cases in literature. 3rd paper refers to case in 2nd paper. Should go green on fanconi panels first.; Changed publications to: 29278735, 20400963, 37031326
Fetal anomalies v6.147 RAB35 Natalie Chandler reviewed gene: RAB35: Rating: RED; Mode of pathogenicity: ; Publications: 38432637; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PURA Esther Kinning reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787, 40603987; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PTBP1 Natalie Canham reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40965981; Phenotypes: neurodevelopmental disorder with skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRKCI Anna de Burca reviewed gene: PRKCI: Rating: GREEN; Mode of pathogenicity: ; Publications: 40902599; Phenotypes: Van der Woude syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PRDM13 Arina Puzriakova reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 34730112, 35390279; Phenotypes: Pontocerebellar hypoplasia, type 17, OMIM:619909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R21 Soo-Mi Park reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 32985083, 36692708, 38356149, 30520571, 29808498; Phenotypes: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R13L Tessa Homfray reviewed gene: PPP1R13L: Rating: AMBER; Mode of pathogenicity: ; Publications: 39579152, 37698259, 35924320; Phenotypes: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PPP1R12A Arina Puzriakova reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 39252126, 37272772, 39257322, 40770999; Phenotypes: Genitourinary and/or brain malformation syndrome, OMIM:618820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 POLA1 Tessa Homfray reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34119699, 31006512, 36182037; Phenotypes: Van Esch-O'Driscoll syndrome, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 PMS2 Anna de Burca reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 4, OMIM:619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNB3 Arina Puzriakova reviewed gene: PLXNB3: Rating: RED; Mode of pathogenicity: ; Publications: 36506778; Phenotypes: congenital heart disease with neurodevelopmental disabilities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 PLXNB2 Vicki Harrison reviewed gene: PLXNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38458752; Phenotypes: amelogenesis imperfecta, hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PLXNA1 Vicki Harrison reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40905141, 34054129; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 PLOD3 Esther Kinning reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40289369; Phenotypes: BCARD syndrome (lysyl hydroxylase 3 deficiency) OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGU Tessa Homfray reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353022; Phenotypes: Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGK Tessa Homfray reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 33392778, 32220290, 38902431; Phenotypes: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PIGB Tessa Homfray reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161862, 40230662, 31256876; Phenotypes: Developmental and epileptic encephalopathy 80, OMIM:618580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDIA6 Natalie Canham reviewed gene: PDIA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 40974269, 33495992, 35856135; Phenotypes: Polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD6IP Natalie Chandler reviewed gene: PDCD6IP: Rating: AMBER; Mode of pathogenicity: ; Publications: 32286682, 40897677; Phenotypes: Microcephaly 29, primary, autosomal recessive, OMIM:620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PDCD2 Esther Kinning reviewed gene: PDCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PCLO Arina Puzriakova reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: ; Publications: 40661989, 25832664; Phenotypes: Pontocerebellar hypoplasia, type 3, OMIM:608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PATJ Arina Puzriakova reviewed gene: PATJ: Rating: AMBER; Mode of pathogenicity: ; Publications: 40931526; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 PACSIN3 Beth Young reviewed gene: PACSIN3: Rating: RED; Mode of pathogenicity: ; Publications: 38637313; Phenotypes: Congenital myopathy 27, OMIM:621343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUP133 Natalie Canham reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 37041680, 30427554; Phenotypes: Galloway-Mowat syndrome 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NUDCD2 Esther Kinning reviewed gene: NUDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37272762; Phenotypes: multiple malformation syndrome with cholestasis and renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 NSD2 Arina Puzriakova reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36189577, 33276791, 30345613, 31171569, 40690504, 37351323, 38353053, 33941880; Phenotypes: Rauch-Steindl syndrome OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NR6A1 Natalie Chandler reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40610405; Phenotypes: Oculovertebral syndrome, OMIM:621277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOVA2 Esther Kinning reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607920, 32197073; Phenotypes: neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 NOTCH3 Esther Kinning reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40771185; Phenotypes: Lateral meningocele syndrome, OMIM:130720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MYLPF Esther Kinning reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707087; Phenotypes: Arthrogryposis, distal, type 1C, OMIM:617378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH6 Anna de Burca reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 3, OMIM:619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MSH2 Anna de Burca reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246; Phenotypes: Mismatch repair cancer syndrome 2, OMIM:619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MNS1 Arina Puzriakova reviewed gene: MNS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30148830, 38920647, 39233552, 31534215, 39513328; Phenotypes: Heterotaxy, visceral, 9, autosomal, with male infertility (Autosomal recessive); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MMP9 Natalie Chandler reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: ; Publications: 34407464, 28342220, 36035187; Phenotypes: Metaphyseal anadysplasia 2, OMIM:613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MLH1 Anna de Burca reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28562508, 32354708, 22692065, 30166433, 33247381, 24737826, 17993636, 38981890, 38912246, 39420201; Phenotypes: Mismatch repair cancer syndrome 1, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 MAST1 Alice Gardham reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38284444; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 MAPK8IP3 Alice Gardham reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40734308; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LSM1 Beth Young reviewed gene: LSM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40204357, 36100156, 31010896; Phenotypes: FICUS syndrome, OMIM:621193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LRRC32 Alice Gardham reviewed gene: LRRC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 30976112, 40721351, 35656379; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LMOD2 Esther Kinning reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 31517052, 35082396, 37296576; Phenotypes: Cardiomyopathy, dilated, 2G, OMIM:619897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 LINC01578 Natalie Chandler reviewed gene: LINC01578: Rating: AMBER; Mode of pathogenicity: ; Publications: 39442041; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LHX2 Esther Kinning reviewed gene: LHX2: Rating: RED; Mode of pathogenicity: ; Publications: 37057675; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LEF1 Beth Young reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35583550, 32022899, 39107921; Phenotypes: Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 LDB3 Beth Young reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: 36253531; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KIAA0556 Alice Gardham reviewed gene: KIAA0556: Rating: GREEN; Mode of pathogenicity: ; Publications: 26714646, 36580738, 40428346, 40725402, 27245168; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 KDM4B Natalie Chandler reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38270710, 33232677; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, OMIM:619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNQ5 Alice Gardham reviewed gene: KCNQ5: Rating: RED; Mode of pathogenicity: ; Publications: 40620262; Phenotypes: Intellectual developmental disorder, autosomal dominant 46, OMIM:617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.147 KCNN4 Natalie Chandler reviewed gene: KCNN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36031591; Phenotypes: Dehydrated hereditary stomatocytosis 2, OMIM:616689; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 KCNJ8 Anna de Burca reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: ; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 INPP4A Alice Gardham reviewed gene: INPP4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25338135, 31978615, 21937992, 31938306, 36653678, 39315527; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IL6ST Soo-Mi Park reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: ; Publications: 40835206; Phenotypes: Stuve-Wiedemann syndrome 2, OMIM:619751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 IKZF2 Beth Young reviewed gene: IKZF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 37316189; Phenotypes: Immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay, OMIM:621234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 IFT57 Alice Gardham reviewed gene: IFT57: Rating: GREEN; Mode of pathogenicity: ; Publications: 40273360, 27060890; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HNRNPR Elizabeth Scotchman reviewed gene: HNRNPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079900, 33874999; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HNRNPH1 Elizabeth Scotchman reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29938792, 33874999, 32335897; Phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HMGB1 Esther Kinning reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801, 39635340; Phenotypes: brachyphalangy, polydactyly and tibial aplasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HEY2 Alice Gardham reviewed gene: HEY2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40481234; Phenotypes: Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HERC2 Anna de Burca reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23243086, 38884635, 23065719, 41059448; Phenotypes: Intellectual developmental disorder, autosomal recessive 38, OMIM:615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 HDAC2 Vicki Harrison reviewed gene: HDAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 30806031, 38753158; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 HACD1 Anna de Burca reviewed gene: HACD1: Rating: RED; Mode of pathogenicity: ; Publications: 23933735, 15829503, 32426512, 36823680, 33354762; Phenotypes: Congenital myopathy 11, OMIM:619967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 H3F3B Anna de Burca reviewed gene: H3F3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 34876591, 33268356, 39060653; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 2, OMIM:619721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 GTF3C3 Beth Young reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39636576, 40040844; Phenotypes: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v6.147 GON7 Natalie Canham reviewed gene: GON7: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669; Phenotypes: Galloway-Mowat syndrome 9, OMIM:619603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GNPNAT1 Beth Young reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Talipes equinovarus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GINS3 Natalie Chandler reviewed gene: GINS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38773883, 35603789; Phenotypes: Meier-Gorlin syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 GATAD2B Sarah Graham reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976362, 31949314, 40371175; Phenotypes: GAND syndrome, OMIM:615074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FOXI3 Alice Gardham reviewed gene: FOXI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36260083, 40032185, 40128339, 37041148, 40275486; Phenotypes: Craniofacial microsomia 2, OMIM:620444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FIBP Anna de Burca reviewed gene: FIBP: Rating: AMBER; Mode of pathogenicity: ; Publications: 37876348, 37218527, 27183861, 40536757, 26660953, 40099975; Phenotypes: Thauvin-Robinet-Faivre syndrome, OMIM:617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FGF4 Beth Young reviewed gene: FGF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40259859; Phenotypes: Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 FEM1B Beth Young reviewed gene: FEM1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 38465576; Phenotypes: Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXW7 Anna de Burca reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: ; Publications: 35395208, 39364007; Phenotypes: Developmental delay, hypotonia, and impaired language, OMIM:620012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO28 Elizabeth Scotchman reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: ; Publications: 37761828, 37543484, 30160831, 33280099; Phenotypes: Developmental and epileptic encephalopathy 100, OMIM:619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 FBXO11 Arina Puzriakova reviewed gene: FBXO11: Rating: RED; Mode of pathogenicity: ; Publications: 35726512, 38268232; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 EXOSC9 Arina Puzriakova reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 33040083, 29727687, 30690203; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EXOSC1 Arina Puzriakova reviewed gene: EXOSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37024942, 33463720; Phenotypes: Pontocerebellar hypoplasia, type 1F, OMIM:619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ETV2 Natalie Chandler reviewed gene: ETV2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33359164; Phenotypes: congenital heart defects, vertebral abnormalities and preaxial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ENPP5 Alice Gardham reviewed gene: ENPP5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40457511; Phenotypes: Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EMC10 Elizabeth Scotchman reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 32869858, 40150819, 35684946, 35124540, 33531666; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ELFN1 Beth Young reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 40576023, 34509675, 34452636; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EIF4A2 Elizabeth Scotchman reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36528028; Phenotypes: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDN1 Elizabeth Scotchman reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24268655, 35170830, 12244558; Phenotypes: Auriculocondylar syndrome 3, OMIM:615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 EDA Alice Gardham reviewed gene: EDA: Rating: RED; Mode of pathogenicity: ; Publications: 40781288; Phenotypes: Hypohidrotic ectodermal dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DPH5 Elizabeth Scotchman reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35482014, 40725455; Phenotypes: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DOT1L Beth Young reviewed gene: DOT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 37827158, 41475673; Phenotypes: Nil-Deshwar neurodevelopmental syndrome, OMIM:621265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DNAH14 Alice Gardham reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: ; Publications: 40721351, 35438214; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DLG3 Natalie Canham reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40983642; Phenotypes: Intellectual developmental disorder, X-linked 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 DIP2C Elizabeth Scotchman reviewed gene: DIP2C: Rating: AMBER; Mode of pathogenicity: ; Publications: 40915331, 34617658, 38421105; Phenotypes: neurodevelopmental disorder, congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DHX37 Arina Puzriakova reviewed gene: DHX37: Rating: GREEN; Mode of pathogenicity: ; Publications: 40934457; Phenotypes: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, OMIM:618731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHRS3 Natalie Chandler reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 40519748; Phenotypes: coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DHPS Elizabeth Scotchman reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: 30661771; Phenotypes: Neurodevelopmental disorder with seizures and speech and walking impairment, OMIM:618480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 DDX23 Elizabeth Scotchman reviewed gene: DDX23: Rating: AMBER; Mode of pathogenicity: ; Publications: 34050707; Phenotypes: Syndromic neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 DDR1 Alice Gardham reviewed gene: DDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39714220; Phenotypes: Chondrodysplasia with multiple dislocations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CSDE1 Natalie Chandler reviewed gene: CSDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31579823, 34519148; Phenotypes: neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CRELD1 Natalie Canham reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40870020, 37947183, 40980404; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CPOX Alice Gardham reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: 40769776; Phenotypes: Harderoporphyria, OMIM:618892; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKB Tessa Homfray reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter syndrome, type 3, OMIM:607364; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCNKA Tessa Homfray reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CLCN3 Elizabeth Scotchman reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36536096, 34186028; Phenotypes: Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517, Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.147 CHD8 Vicki Harrison reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 40848233; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, OMIM:615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CEP76 Natalie Chandler reviewed gene: CEP76: Rating: GREEN; Mode of pathogenicity: ; Publications: 41105778; Phenotypes: retinitis pigmentosa, Joubert syndrome, complex neurodevelopmental disorder MONDO:0100038, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CEP162 Natalie Chandler reviewed gene: CEP162: Rating: RED; Mode of pathogenicity: ; Publications: 36862503; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CDX1 Beth Young reviewed gene: CDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23329892; Phenotypes: Anorectal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDH11 Beth Young reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811546, 29271567; Phenotypes: Teebi hypertelorism syndrome 2, OMIM:619736; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 CDC42BPB Elizabeth Scotchman reviewed gene: CDC42BPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC42 Elizabeth Scotchman reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: 40371891, 33936654, 34624555, 29335451, 29394990, 26708094, 33672558, 26386261; Phenotypes: Takenouchi-Kosaki syndrome, OMIM:616737; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CDC40 Arina Puzriakova reviewed gene: CDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 15, OMIM:619302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCT8 Stephanie Allen reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Brain malformations, intellectual disability, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CCP110 Arina Puzriakova reviewed gene: CCP110: Rating: AMBER; Mode of pathogenicity: ; Publications: 38857829; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCM2L Stephanie Allen reviewed gene: CCM2L: Rating: RED; Mode of pathogenicity: ; Publications: 40521769; Phenotypes: Tetralogy of Fallot; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC88A Stephanie Allen reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37798908, 39334473, 26917597, 39675783, 40401444, 30392057; Phenotypes: PEHO syndrome-like, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CCDC32 Natalie Chandler reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 32307552; Phenotypes: Cardiofacioneurodevelopmental syndrome, OMIM:619123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CBFB Stephanie Allen reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 36241386, 39894570; Phenotypes: Cleidocranial dysplasia-2, OMIM:620099; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 CAMSAP1 Natalie Chandler reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39724270, 36283405; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 CACHD1 Sarah Graham reviewed gene: CACHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38158856; Phenotypes: Neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BUB1 Natalie Chandler reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: Microcephaly 30, primary, autosomal recessive, OMIM:620183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRWD3 Vicki Harrison reviewed gene: BRWD3: Rating: RED; Mode of pathogenicity: ; Publications: 40905141, 36414205; Phenotypes: Intellectual developmental disorder, X-linked 93, OMIM:300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 BRF2 Stephanie Allen reviewed gene: BRF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40781771, 40229899; Phenotypes: Syndromic immunodeficiency and developmental disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BRF1 Stephanie Allen reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40657982; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BNIP1 Beth Young reviewed gene: BNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 3,526,622,739,706,860; Phenotypes: Spondyloepiphyseal dysplasia, Holling type, OMIM:621345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BBIP1 Natalie Chandler reviewed gene: BBIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37239474, 24026985, 32055034; Phenotypes: Bardet-Biedl syndrome 18, MIM #615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 BAZ2B Sarah Graham reviewed gene: BAZ2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31999386, 37872713; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 B9D1 Stephanie Allen reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40933483, 40565534; Phenotypes: Joubert syndrome 27, OMIM:617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ATP6V0A1 Anna de Burca reviewed gene: ATP6V0A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 34909687, 33833240; Phenotypes: Developmental and epileptic encephalopathy 104, OMIM:619970, Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v6.147 ASXL2 Soo-Mi Park reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33751773, 27693232, 35182806; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF40 Sarah Graham reviewed gene: ARHGEF40: Rating: AMBER; Mode of pathogenicity: ; Publications: 39838643; Phenotypes: Congenital anomalies and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARHGEF17 Arina Puzriakova reviewed gene: ARHGEF17: Rating: RED; Mode of pathogenicity: ; Publications: 36341116, 40721351; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ARF3 Natalie Chandler reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38712921, 36369169, 34346499; Phenotypes: Neurodevelopmental disorder, brain abnormality; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ARAF Stephanie Allen reviewed gene: ARAF: Rating: RED; Mode of pathogenicity: ; Publications: 31263281; Phenotypes: Lymphatic anomaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKRD17 Stephanie Allen reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 40604385; Phenotypes: Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ANKLE2 Natalie Chandler reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35871307, 31735666, 30214071, 40940024, 25259927; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AMOT Anna de Burca reviewed gene: AMOT: Rating: AMBER; Mode of pathogenicity: ; Publications: 40892511; Phenotypes: Congenital hydrocephalus; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.147 ALKBH8 Stephanie Allen reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Intellectual developmental disorder, autosomal recessive 71, OMIM:618504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP2 Stephanie Allen reviewed gene: AIMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40721351; Phenotypes: Leukodystrophy, hypomyelinating, 17, OMIM:618006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 AIMP1 Stephanie Allen reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40603987; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAT3 Stephanie Allen reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40579404; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS9 Elizabeth Scotchman reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30609407, 34750010; Phenotypes: ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ADAMTS13 Stephanie Allen reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: ; Publications: 40760196; Phenotypes: Hereditary thrombotic thrombocytopenic purpura, OMIM:274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.147 ACVR2B Natalie Chandler reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: ; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ACVR1 Soo-Mi Park reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40911705, 40874919, 26097044, 25346098; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ABI2 Stephanie Allen reviewed gene: ABI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40475134; Phenotypes: Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.146 LINC01578 Arina Puzriakova commented on gene: LINC01578
Fetal anomalies v6.146 LINC01578 Arina Puzriakova Tag new-gene-name tag was added to gene: LINC01578.
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 v6.144 ZDHHC9 Arina Puzriakova Source Expert Review Amber was added to ZDHHC9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 WDR11 Arina Puzriakova Source Expert Review Amber was added to WDR11.
Mode of inheritance for gene WDR11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 TEK Arina Puzriakova Source Expert Review Amber was added to TEK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PURA Arina Puzriakova Source Expert Review Amber was added to PURA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PPP1R13L Arina Puzriakova Source Expert Review Amber was added to PPP1R13L.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 PMS2 Arina Puzriakova Source Expert Review Amber was added to PMS2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MSH6 Arina Puzriakova Source Expert Review Amber was added to MSH6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MSH2 Arina Puzriakova Source Expert Review Amber was added to MSH2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 MLH1 Arina Puzriakova Source Expert Review Amber was added to MLH1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 LDB3 Arina Puzriakova Source Expert Review Amber was added to LDB3.
Mode of inheritance for gene LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 KCNQ5 Arina Puzriakova Source Expert Review Red was added to KCNQ5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v6.144 EDN1 Arina Puzriakova Mode of inheritance for gene EDN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.144 DLG3 Arina Puzriakova Source Expert Review Amber was added to DLG3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.144 AIMP1 Arina Puzriakova Source Expert Review Amber was added to AIMP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.143 SGCG Arina Puzriakova Source Expert Review Red was added to SGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.143 ACVR2B Arina Puzriakova Source Expert Review Red was added to ACVR2B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
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 YRDC Arina Puzriakova Source Expert Review Green was added to YRDC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 WSB2 Arina Puzriakova Source Expert Review Green was added to WSB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 WDR91 Arina Puzriakova Source Expert Review Green was added to WDR91.
Rating Changed from Red List (low evidence) to Green List (high evidence)
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 TUBGCP2 Arina Puzriakova Source Expert Review Green was added to TUBGCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 TRIO Arina Puzriakova Source Expert Review Green was added to TRIO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 SNAPIN Arina Puzriakova Source Expert Review Green was added to SNAPIN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 SHROOM4 Arina Puzriakova Source Expert Review Green was added to SHROOM4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 SELENON Arina Puzriakova Source Expert Review Green was added to SELENON.
Rating Changed from Red List (low evidence) to Green List (high evidence)
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 PTBP1 Arina Puzriakova Source Expert Review Green was added to PTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 PPP1R12A Arina Puzriakova Source Expert Review Green was added to PPP1R12A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
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 PDCD2 Arina Puzriakova Source Expert Review Green was added to PDCD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 NSD2 Arina Puzriakova Source Expert Review Green was added to NSD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 NOVA2 Arina Puzriakova Source Expert Review Green was added to NOVA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 MNS1 Arina Puzriakova Source Expert Review Green was added to MNS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MAST1 Arina Puzriakova Source Expert Review Green was added to MAST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 MAPK8IP3 Arina Puzriakova Source Expert Review Green was added to MAPK8IP3.
Mode of inheritance for gene MAPK8IP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 KIAA0556 Arina Puzriakova Source Expert Review Green was added to KIAA0556.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 KCNJ8 Arina Puzriakova Source Expert Review Green was added to KCNJ8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 HMGB1 Arina Puzriakova Source Expert Review Green was added to HMGB1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
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 GPKOW Arina Puzriakova Source Expert Review Green was added to GPKOW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 GATAD2B Arina Puzriakova Source Expert Review Green was added to GATAD2B.
Mode of inheritance for gene GATAD2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v6.143 FOXI3 Arina Puzriakova Source Expert Review Green was added to FOXI3.
Mode of inheritance for gene FOXI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 EXOSC9 Arina Puzriakova Source Expert Review Green was added to EXOSC9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 CLCNKB Arina Puzriakova Source Expert Review Green was added to CLCNKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 CACHD1 Arina Puzriakova Source Expert Review Green was added to CACHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 BRF1 Arina Puzriakova Source Expert Review Green was added to BRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 B9D1 Arina Puzriakova Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.143 ASXL2 Arina Puzriakova Source Expert Review Green was added to ASXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 ANKLE2 Arina Puzriakova Source Expert Review Green was added to ANKLE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 ACVR1 Arina Puzriakova Source Expert Review Green was added to ACVR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 Tag Q1_26_promote_green was removed from gene: FSD1L.
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 v6.141 ALPL Arina Puzriakova Phenotypes for gene: ALPL were changed from HYPOPHOSPHATASIA to Hypophosphatasia, childhood, OMIM:241510; Hypophosphatasia, infantile, OMIM:241500
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Classified gene: CELSR3 as Amber List (moderate evidence)
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of patients reported with biallelic variants and CNS anomalies/ CAKUT. However, previous review suggests that the disease association is not convincing. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Gene: celsr3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: CELSR3.
Tag Q1_26_expert_review tag was added to gene: CELSR3.
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Phenotypes for gene: CELSR3 were changed from Neurodevelopmental disorder, MONDO:0700092, CELSR3-related to neurodevelopmental disorder, MONDO:0700092; congenital anomaly of kidney and urinary tract, MONDO:0019719
Fetal anomalies v6.138 CELSR3 Achchuthan Shanmugasundram edited their review of gene: CELSR3: Added comment: PMID:38429302 (2024) reported the identification of biallelic variants in CELSR3 gene in 12 individuals from 11 unrelated families. Six of 12 patients presented with homozygous missense and five with compound heterozygous missense CELSR3 variants, while one individual carried a heterozygous missense variant and an in-frame-deletion in trans.

Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).

There is also functional evidence available from zebrafish, where transient suppression of CELSR3 ortholog Celsr3 leads to anomalies in the developing CNS and urinary system.

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 26 February 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype. This gene is also rated green on the Fetal anomalies panel of PanelApp Australia.; Changed rating: GREEN; Changed publications to: 38429302; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, congenital anomaly of kidney and urinary tract, MONDO:0019719; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.138 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Fetal anomalies v6.137 PAICS Arina Puzriakova Publications for gene: PAICS were set to 31178128; 31600779; 3965093; 38179855; 30758658
Fetal anomalies v6.136 CYP11A1 Eleanor Williams Tag Q1_26_MOI tag was added to gene: CYP11A1.
Fetal anomalies v6.135 CYP11A1 Ida Ertmanska reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502818, 29995203, 30620006, 35418949, 39457196; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Classified gene: SNAPIN as Amber List (moderate evidence)
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from three unrelated families reported with biallelic SNAPIN variants and with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Gene: snapin has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.134 SNAPIN Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: SNAPIN.
Fetal anomalies v6.134 BHLHE22 Arina Puzriakova Classified gene: BHLHE22 as Amber List (moderate evidence)
Fetal anomalies v6.134 BHLHE22 Arina Puzriakova Gene: bhlhe22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.133 BHLHE22 Arina Puzriakova Tag watchlist tag was added to gene: BHLHE22.
Fetal anomalies v6.133 BHLHE22 Arina Puzriakova changed review comment from: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.; to: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication. Discussed with R21 expert group and agreed to demote to Amber awaiting publication.
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 v6.132 WSB2 Achchuthan Shanmugasundram Classified gene: WSB2 as Amber List (moderate evidence)
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with either IUGR or Oligohydramnios. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Gene: wsb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.131 WSB2 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: WSB2.
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 v6.130 MIA3 Arina Puzriakova changed review comment from: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025; to: Comment on phenotypes: OMIM phenotype (?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.129 TSEN34 Ida Ertmanska Tag Q4_25_demote_amber tag was added to gene: TSEN34.
Fetal anomalies v6.129 TSEN34 Ida Ertmanska commented on gene: TSEN34: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.
Fetal anomalies v6.129 TSEN34 Ida Ertmanska reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: None; Publications: 20952379, 27370523, 32476018, 37544645; Phenotypes: Pontocerebellar hypoplasia type 2C, OMIM:612390, pontocerebellar hypoplasia type 2C, MONDO:0012891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.129 BHLHE22 Arina Puzriakova commented on gene: BHLHE22: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.
Fetal anomalies v6.129 DHRSX Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: DHRSX.
Fetal anomalies v6.129 BHLHE22 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BHLHE22.
Fetal anomalies v6.129 WDR47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR47.
Fetal anomalies v6.129 LDB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: LDB1.
Fetal anomalies v6.129 BORCS5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BORCS5.
Fetal anomalies v6.129 SENP7 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SENP7.
Fetal anomalies v6.129 SLC12A9 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC12A9.
Fetal anomalies v6.129 PHF5A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PHF5A.
Fetal anomalies v6.129 DHRSX Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DHRSX.
Fetal anomalies v6.129 RNU5B-1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNU5B-1.
Fetal anomalies v6.129 C1orf127 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621080) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.129 C1orf127 Achchuthan Shanmugasundram Phenotypes for gene: C1orf127 were changed from Heterotaxy, visceral, 14, autosomal, OMIM:621080 to Heterotaxy, visceral, 14, autosomal, OMIM:621080; heterotaxy, visceral, 14, autosomal, MONDO:0976135
Fetal anomalies v6.128 C1orf127 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C1orf127.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621384) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Phenotypes for gene: PAN2 were changed from syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Fetal anomalies v6.127 PAN2 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PAN2.
Fetal anomalies v6.127 AMOTL1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621192) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.127 AMOTL1 Achchuthan Shanmugasundram Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, OMIM:621192; craniofaciocardiohepatic syndrome, MONDO:0978295
Fetal anomalies v6.126 AMOTL1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: AMOTL1.
Fetal anomalies v6.126 GON4L Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621212) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.126 GON4L Achchuthan Shanmugasundram Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder, MONDO:0100038 to Li-Takada-Miyake syndrome, OMIM:621212; Li-Takada-Miyake syndrome, MONDO:0978303
Fetal anomalies v6.125 GON4L Achchuthan Shanmugasundram Tag gene-checked was removed from gene: GON4L.
Fetal anomalies v6.125 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from OFD IX to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795
Fetal anomalies v6.123 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32.
Fetal anomalies v6.123 PAICS Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859) accessed on 17-12-2025
Fetal anomalies v6.123 PAICS Arina Puzriakova Phenotypes for gene: PAICS were changed from Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Polyhydramnios; multiple congenital abnormalities; early neonatal death to Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859; Polyhydramnios; multiple congenital abnormalities; early neonatal death
Fetal anomalies v6.122 MIA3 Arina Puzriakova Publications for gene: MIA3 were set to 32101163; 40119123; 33778321
Fetal anomalies v6.121 MIA3 Arina Puzriakova commented on gene: MIA3: Another fetal case - PMID: 40130161 (2025) - Homozygous c.2768T>G, p.(Leu923*) was detected in a fetus from a Slovenian family who presented with short bones of extremities (7 percentile), fibular aplasia, bilateral radial aplasia, tibial aplasia, hypoplastic nasal bone, delayed ossification, and congenital contractures.
Fetal anomalies v6.121 ZEB1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ZEB1.
Tag Q3_25_NHS_review was removed from gene: ZEB1.
Fetal anomalies v6.121 WDR47 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: WDR47.
Tag Q3_25_NHS_review was removed from gene: WDR47.
Fetal anomalies v6.121 UNC13D Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: UNC13D.
Tag Q3_25_NHS_review was removed from gene: UNC13D.
Fetal anomalies v6.121 TCP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: TCP1.
Tag Q3_25_NHS_review was removed from gene: TCP1.
Fetal anomalies v6.121 STX5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: STX5.
Tag Q3_25_NHS_review was removed from gene: STX5.
Fetal anomalies v6.121 SRPK3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SRPK3.
Tag Q3_25_NHS_review was removed from gene: SRPK3.
Fetal anomalies v6.121 SPTA1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPTA1.
Tag Q3_25_NHS_review was removed from gene: SPTA1.
Fetal anomalies v6.121 SPOUT1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPOUT1.
Tag Q3_25_NHS_review was removed from gene: SPOUT1.
Fetal anomalies v6.121 SLC35A3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SLC35A3.
Tag Q3_25_NHS_review was removed from gene: SLC35A3.
Fetal anomalies v6.121 SLC12A9 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SLC12A9.
Tag Q3_25_NHS_review was removed from gene: SLC12A9.
Fetal anomalies v6.121 SENP7 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SENP7.
Tag Q3_25_NHS_review was removed from gene: SENP7.
Fetal anomalies v6.121 RPL26 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RPL26.
Tag Q3_25_NHS_review was removed from gene: RPL26.
Fetal anomalies v6.121 RNU5B-1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RNU5B-1.
Tag Q3_25_NHS_review was removed from gene: RNU5B-1.
Fetal anomalies v6.121 RIPPLY2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RIPPLY2.
Tag Q3_25_NHS_review was removed from gene: RIPPLY2.
Fetal anomalies v6.121 RAB11B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RAB11B.
Tag Q3_25_NHS_review was removed from gene: RAB11B.
Fetal anomalies v6.121 PUS3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PUS3.
Tag Q3_25_NHS_review was removed from gene: PUS3.
Fetal anomalies v6.121 PTEN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTEN.
Tag Q3_25_NHS_review was removed from gene: PTEN.
Fetal anomalies v6.121 PSKH1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PSKH1.
Tag Q3_25_NHS_review was removed from gene: PSKH1.
Fetal anomalies v6.121 PPFIBP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PPFIBP1.
Tag Q3_25_NHS_review was removed from gene: PPFIBP1.
Fetal anomalies v6.121 PPFIA3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PPFIA3.
Tag Q3_25_NHS_review was removed from gene: PPFIA3.
Fetal anomalies v6.121 PLAA Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PLAA.
Tag Q3_25_NHS_review was removed from gene: PLAA.
Fetal anomalies v6.121 PIGW Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGW.
Tag Q3_25_NHS_review was removed from gene: PIGW.
Fetal anomalies v6.121 PIGP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGP.
Tag Q3_25_NHS_review was removed from gene: PIGP.
Fetal anomalies v6.121 PIGG Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGG.
Tag Q3_25_NHS_review was removed from gene: PIGG.
Fetal anomalies v6.121 PI4KA Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PI4KA.
Tag Q3_25_NHS_review was removed from gene: PI4KA.
Fetal anomalies v6.121 PHF5A Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PHF5A.
Tag Q3_25_NHS_review was removed from gene: PHF5A.
Fetal anomalies v6.121 PAK2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAK2.
Tag Q3_25_NHS_review was removed from gene: PAK2.
Fetal anomalies v6.121 PAICS Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAICS.
Tag Q3_25_NHS_review was removed from gene: PAICS.
Fetal anomalies v6.121 ODC1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ODC1.
Tag Q3_25_NHS_review was removed from gene: ODC1.
Fetal anomalies v6.121 NEXN Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as per the review.
Fetal anomalies v6.121 NR2F1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NR2F1.
Tag Q3_25_NHS_review was removed from gene: NR2F1.
Fetal anomalies v6.121 NODAL Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: NODAL.
Tag Q3_25_demote_red was removed from gene: NODAL.
Fetal anomalies v6.121 NEXN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NEXN.
Tag Q3_25_NHS_review was removed from gene: NEXN.
Fetal anomalies v6.121 NEPRO Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NEPRO.
Tag Q3_25_NHS_review was removed from gene: NEPRO.
Fetal anomalies v6.121 NDUFB7 Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: NDUFB7.
Tag Q3_25_NHS_review was removed from gene: NDUFB7.
Fetal anomalies v6.121 MYH9 Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: MYH9.
Tag Q3_25_demote_red was removed from gene: MYH9.
Fetal anomalies v6.121 MSL2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MSL2.
Tag Q3_25_NHS_review was removed from gene: MSL2.
Fetal anomalies v6.121 MIA3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MIA3.
Tag Q3_25_NHS_review was removed from gene: MIA3.
Fetal anomalies v6.121 MED11 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MED11.
Tag Q3_25_NHS_review was removed from gene: MED11.
Fetal anomalies v6.121 MAPK1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MAPK1.
Tag Q3_25_NHS_review was removed from gene: MAPK1.
Fetal anomalies v6.121 MAGED2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MAGED2.
Tag Q3_25_NHS_review was removed from gene: MAGED2.
Fetal anomalies v6.121 LSS Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LSS.
Tag Q3_25_NHS_review was removed from gene: LSS.
Fetal anomalies v6.121 LGI3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LGI3.
Tag Q3_25_NHS_review was removed from gene: LGI3.
Fetal anomalies v6.121 LDB1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LDB1.
Tag Q3_25_NHS_review was removed from gene: LDB1.
Fetal anomalies v6.121 LAGE3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LAGE3.
Tag Q3_25_NHS_review was removed from gene: LAGE3.
Fetal anomalies v6.121 ITGAV Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ITGAV.
Tag Q3_25_NHS_review was removed from gene: ITGAV.
Fetal anomalies v6.121 IFT27 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: IFT27.
Tag Q3_25_NHS_review was removed from gene: IFT27.
Fetal anomalies v6.121 HNRNPU Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: HNRNPU.
Tag Q3_25_NHS_review was removed from gene: HNRNPU.
Fetal anomalies v6.121 HDAC3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: HDAC3.
Tag Q3_25_NHS_review was removed from gene: HDAC3.
Fetal anomalies v6.121 GNS Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: GNS.
Tag Q3_25_demote_amber was removed from gene: GNS.
Fetal anomalies v6.121 GNAI2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GNAI2.
Tag Q3_25_NHS_review was removed from gene: GNAI2.
Fetal anomalies v6.121 GEMIN4 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GEMIN4.
Tag Q3_25_NHS_review was removed from gene: GEMIN4.
Fetal anomalies v6.121 GALT Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GALT.
Tag Q3_25_NHS_review was removed from gene: GALT.
Fetal anomalies v6.121 FLVCR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: FLVCR1.
Fetal anomalies v6.121 FAAP100 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: FAAP100.
Tag Q3_25_NHS_review was removed from gene: FAAP100.
Fetal anomalies v6.121 EXOSC8 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOSC8.
Tag Q3_25_NHS_review was removed from gene: EXOSC8.
Fetal anomalies v6.121 EXOC6B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOC6B.
Tag Q3_25_NHS_review was removed from gene: EXOC6B.
Fetal anomalies v6.121 EFL1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EFL1.
Tag Q3_25_NHS_review was removed from gene: EFL1.
Fetal anomalies v6.121 EEFSEC Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EEFSEC.
Tag Q3_25_NHS_review was removed from gene: EEFSEC.
Fetal anomalies v6.121 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.120 C1orf127 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: C1orf127.
Tag Q2_25_ NHS_review was removed from gene: C1orf127.
Fetal anomalies v6.120 DST Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DST.
Tag Q3_25_NHS_review was removed from gene: DST.
Fetal anomalies v6.120 DSE Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DSE.
Tag Q3_25_NHS_review was removed from gene: DSE.
Fetal anomalies v6.120 DHX9 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DHX9.
Tag Q3_25_NHS_review was removed from gene: DHX9.
Fetal anomalies v6.120 DHRSX Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DHRSX.
Tag Q3_25_NHS_review was removed from gene: DHRSX.
Fetal anomalies v6.120 CTGF Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CTGF.
Tag Q3_25_NHS_review was removed from gene: CTGF.
Fetal anomalies v6.120 COQ2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COQ2.
Tag Q3_25_NHS_review was removed from gene: COQ2.
Fetal anomalies v6.120 COMP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COMP.
Tag Q3_25_NHS_review was removed from gene: COMP.
Fetal anomalies v6.120 COL25A1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COL25A1.
Tag Q3_25_NHS_review was removed from gene: COL25A1.
Fetal anomalies v6.120 CELSR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CELSR1.
Tag Q3_25_NHS_review was removed from gene: CELSR1.
Fetal anomalies v6.120 CDK5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CDK5.
Tag Q3_25_NHS_review was removed from gene: CDK5.
Fetal anomalies v6.120 C12orf66 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: C12orf66.
Tag Q3_25_NHS_review was removed from gene: C12orf66.
Fetal anomalies v6.120 BORCS5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: BORCS5.
Tag Q3_25_NHS_review was removed from gene: BORCS5.
Fetal anomalies v6.120 BHLHE22 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: BHLHE22.
Tag Q3_25_NHS_review was removed from gene: BHLHE22.
Fetal anomalies v6.120 ARL6IP1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ARL6IP1.
Tag Q3_25_promote_green was removed from gene: ARL6IP1.
Fetal anomalies v6.120 ARL2BP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ARL2BP.
Tag Q3_25_NHS_review was removed from gene: ARL2BP.
Fetal anomalies v6.120 AGT Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: AGT.
Tag Q3_25_NHS_review was removed from gene: AGT.
Fetal anomalies v6.120 AGRN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: AGRN.
Tag Q3_25_NHS_review was removed from gene: AGRN.
Fetal anomalies v6.120 ZEB1 Achchuthan Shanmugasundram reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 WDR47 Achchuthan Shanmugasundram reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 UNC13D Achchuthan Shanmugasundram edited their review of gene: UNC13D: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 TCP1 Achchuthan Shanmugasundram reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 STX5 Achchuthan Shanmugasundram edited their review of gene: STX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SRPK3 Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SPTA1 Achchuthan Shanmugasundram edited their review of gene: SPTA1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SPOUT1 Achchuthan Shanmugasundram reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC35A3 Achchuthan Shanmugasundram reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC12A9 Achchuthan Shanmugasundram reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SENP7 Achchuthan Shanmugasundram reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RPL26 Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RNU5B-1 Achchuthan Shanmugasundram reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RIPPLY2 Achchuthan Shanmugasundram reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RAB11B Achchuthan Shanmugasundram edited their review of gene: RAB11B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PUS3 Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PTEN Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PSKH1 Achchuthan Shanmugasundram reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIBP1 Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIA3 Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PLAA Achchuthan Shanmugasundram edited their review of gene: PLAA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGP Achchuthan Shanmugasundram reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGG Achchuthan Shanmugasundram edited their review of gene: PIGG: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PI4KA Achchuthan Shanmugasundram edited their review of gene: PI4KA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PHF5A Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PDE12 Achchuthan Shanmugasundram edited their review of gene: PDE12: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: The concern from the panel for this one is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal pehnotype and there is not another cuase of these abnormalities in these families.; Changed rating: AMBER
Fetal anomalies v6.120 PAK2 Achchuthan Shanmugasundram reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PAICS Achchuthan Shanmugasundram reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ODC1 Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NR2F1 Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NODAL Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NEXN Achchuthan Shanmugasundram edited their review of gene: NEXN: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 NEPRO Achchuthan Shanmugasundram reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NDUFB7 Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MYH9 Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MSL2 Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MIA3 Achchuthan Shanmugasundram reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MED11 Achchuthan Shanmugasundram reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MAPK1 Achchuthan Shanmugasundram edited their review of gene: MAPK1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 MAGED2 Achchuthan Shanmugasundram reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LSS Achchuthan Shanmugasundram reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LGI3 Achchuthan Shanmugasundram reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LDB1 Achchuthan Shanmugasundram reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LAGE3 Achchuthan Shanmugasundram edited their review of gene: LAGE3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 ITGAV Achchuthan Shanmugasundram edited their review of gene: ITGAV: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 IFT27 Achchuthan Shanmugasundram edited their review of gene: IFT27: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 HNRNPU Achchuthan Shanmugasundram reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 HDAC3 Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNS Achchuthan Shanmugasundram reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNAI2 Achchuthan Shanmugasundram reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GALT Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLII Achchuthan Shanmugasundram reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FAAP100 Achchuthan Shanmugasundram reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EXOSC8 Achchuthan Shanmugasundram edited their review of gene: EXOSC8: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 EXOC6B Achchuthan Shanmugasundram reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EFL1 Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EEFSEC Achchuthan Shanmugasundram reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DST Achchuthan Shanmugasundram reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DSE Achchuthan Shanmugasundram reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHX9 Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHRSX Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 CTGF Achchuthan Shanmugasundram reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COQ2 Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COMP Achchuthan Shanmugasundram reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COL25A1 Achchuthan Shanmugasundram edited their review of gene: COL25A1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CDK5 Achchuthan Shanmugasundram reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C1orf127 Achchuthan Shanmugasundram reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C12orf66 Achchuthan Shanmugasundram reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BORCS5 Achchuthan Shanmugasundram reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BHLHE22 Achchuthan Shanmugasundram reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL6IP1 Achchuthan Shanmugasundram reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL2BP Achchuthan Shanmugasundram reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 AGT Achchuthan Shanmugasundram edited their review of gene: AGT: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 AGRN Achchuthan Shanmugasundram reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.119 ZEB1 Arina Puzriakova Source Expert Review Green was added to ZEB1.
Source NHS GMS was added to ZEB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 WDR47 Arina Puzriakova Source Expert Review Green was added to WDR47.
Source NHS GMS was added to WDR47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 UNC13D Arina Puzriakova Source Expert Review Green was added to UNC13D.
Source NHS GMS was added to UNC13D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 TCP1 Arina Puzriakova Source Expert Review Green was added to TCP1.
Source NHS GMS was added to TCP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 STX5 Arina Puzriakova Source Expert Review Green was added to STX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SRPK3 Arina Puzriakova Source Expert Review Green was added to SRPK3.
Source NHS GMS was added to SRPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SPTA1 Arina Puzriakova Source Expert Review Green was added to SPTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SPOUT1 Arina Puzriakova Source Expert Review Green was added to SPOUT1.
Source NHS GMS was added to SPOUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SLC35A3 Arina Puzriakova Source Expert Review Green was added to SLC35A3.
Source NHS GMS was added to SLC35A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SLC12A9 Arina Puzriakova Source Expert Review Green was added to SLC12A9.
Source NHS GMS was added to SLC12A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SENP7 Arina Puzriakova Source Expert Review Green was added to SENP7.
Source NHS GMS was added to SENP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RPL26 Arina Puzriakova Source Expert Review Green was added to RPL26.
Source NHS GMS was added to RPL26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RNU5B-1 Arina Puzriakova Source Expert Review Green was added to RNU5B-1.
Source NHS GMS was added to RNU5B-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RIPPLY2 Arina Puzriakova Source Expert Review Green was added to RIPPLY2.
Source NHS GMS was added to RIPPLY2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RAB11B Arina Puzriakova Source Expert Review Green was added to RAB11B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PUS3 Arina Puzriakova Source Expert Review Green was added to PUS3.
Source NHS GMS was added to PUS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PTEN Arina Puzriakova Source Expert Review Green was added to PTEN.
Source NHS GMS was added to PTEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PSKH1 Arina Puzriakova Source Expert Review Green was added to PSKH1.
Source NHS GMS was added to PSKH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PPFIBP1 Arina Puzriakova Source Expert Review Green was added to PPFIBP1.
Source NHS GMS was added to PPFIBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PPFIA3 Arina Puzriakova Source Expert Review Green was added to PPFIA3.
Source NHS GMS was added to PPFIA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PLAA Arina Puzriakova Source Expert Review Green was added to PLAA.
Source NHS GMS was added to PLAA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGW Arina Puzriakova Source Expert Review Green was added to PIGW.
Source NHS GMS was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGP Arina Puzriakova Source Expert Review Green was added to PIGP.
Source NHS GMS was added to PIGP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGG Arina Puzriakova Source Expert Review Green was added to PIGG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PHF5A Arina Puzriakova Source Expert Review Green was added to PHF5A.
Source NHS GMS was added to PHF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PAK2 Arina Puzriakova Source Expert Review Green was added to PAK2.
Source NHS GMS was added to PAK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PAICS Arina Puzriakova Source Expert Review Green was added to PAICS.
Source NHS GMS was added to PAICS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ODC1 Arina Puzriakova Source Expert Review Green was added to ODC1.
Source NHS GMS was added to ODC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NR2F1 Arina Puzriakova Source Expert Review Green was added to NR2F1.
Source NHS GMS was added to NR2F1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NODAL Arina Puzriakova Source Expert Review Red was added to NODAL.
Source NHS GMS was added to NODAL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.119 NEXN Arina Puzriakova Source Expert Review Green was added to NEXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NEPRO Arina Puzriakova Source Expert Review Green was added to NEPRO.
Source NHS GMS was added to NEPRO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MYH9 Arina Puzriakova Source Expert Review Red was added to MYH9.
Source NHS GMS was added to MYH9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.119 MSL2 Arina Puzriakova Source Expert Review Green was added to MSL2.
Source NHS GMS was added to MSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MIA3 Arina Puzriakova Source Expert Review Green was added to MIA3.
Source NHS GMS was added to MIA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MED11 Arina Puzriakova Source Expert Review Green was added to MED11.
Source NHS GMS was added to MED11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MAPK1 Arina Puzriakova Source Expert Review Green was added to MAPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MAGED2 Arina Puzriakova Source Expert Review Green was added to MAGED2.
Source NHS GMS was added to MAGED2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LSS Arina Puzriakova Source Expert Review Green was added to LSS.
Source NHS GMS was added to LSS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LGI3 Arina Puzriakova Source Expert Review Green was added to LGI3.
Source NHS GMS was added to LGI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LDB1 Arina Puzriakova Source Expert Review Green was added to LDB1.
Source NHS GMS was added to LDB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LAGE3 Arina Puzriakova Source Expert Review Green was added to LAGE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ITGAV Arina Puzriakova Source Expert Review Green was added to ITGAV.
Source NHS GMS was added to ITGAV.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 IFT27 Arina Puzriakova Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 HNRNPU Arina Puzriakova Source Expert Review Green was added to HNRNPU.
Source NHS GMS was added to HNRNPU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 HDAC3 Arina Puzriakova Source Expert Review Green was added to HDAC3.
Source NHS GMS was added to HDAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GNS Arina Puzriakova Source Expert Review Amber was added to GNS.
Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v6.119 GNAI2 Arina Puzriakova Source Expert Review Green was added to GNAI2.
Source NHS GMS was added to GNAI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GEMIN4 Arina Puzriakova Source Expert Review Green was added to GEMIN4.
Source NHS GMS was added to GEMIN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GALT Arina Puzriakova Source Expert Review Green was added to GALT.
Source NHS GMS was added to GALT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 FLVCR1 Arina Puzriakova Source Expert Review Green was added to FLVCR1.
Source NHS GMS was added to FLVCR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 FAAP100 Arina Puzriakova Source Expert Review Green was added to FAAP100.
Source NHS GMS was added to FAAP100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EXOSC8 Arina Puzriakova Source Expert Review Green was added to EXOSC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EXOC6B Arina Puzriakova Source Expert Review Green was added to EXOC6B.
Source NHS GMS was added to EXOC6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Source NHS GMS was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EEFSEC Arina Puzriakova Source Expert Review Green was added to EEFSEC.
Source NHS GMS was added to EEFSEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DST Arina Puzriakova Source Expert Review Green was added to DST.
Source NHS GMS was added to DST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DSE Arina Puzriakova Source Expert Review Green was added to DSE.
Source NHS GMS was added to DSE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DHX9 Arina Puzriakova Source Expert Review Green was added to DHX9.
Source NHS GMS was added to DHX9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DHRSX Arina Puzriakova Source Expert Review Green was added to DHRSX.
Source NHS GMS was added to DHRSX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CTGF Arina Puzriakova Source Expert Review Green was added to CTGF.
Source NHS GMS was added to CTGF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COQ2 Arina Puzriakova Source Expert Review Green was added to COQ2.
Source NHS GMS was added to COQ2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COMP Arina Puzriakova Source Expert Review Green was added to COMP.
Source NHS GMS was added to COMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COL25A1 Arina Puzriakova Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CELSR1 Arina Puzriakova Source Expert Review Green was added to CELSR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CDK5 Arina Puzriakova Source Expert Review Green was added to CDK5.
Source NHS GMS was added to CDK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 C1orf127 Arina Puzriakova Source Expert Review Green was added to C1orf127.
Source NHS GMS was added to C1orf127.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 C12orf66 Arina Puzriakova Source Expert Review Green was added to C12orf66.
Source NHS GMS was added to C12orf66.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 BORCS5 Arina Puzriakova Source Expert Review Green was added to BORCS5.
Source NHS GMS was added to BORCS5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 BHLHE22 Arina Puzriakova Source Expert Review Green was added to BHLHE22.
Source NHS GMS was added to BHLHE22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ARL6IP1 Arina Puzriakova Source Expert Review Green was added to ARL6IP1.
Source NHS GMS was added to ARL6IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ARL2BP Arina Puzriakova Source Expert Review Green was added to ARL2BP.
Source NHS GMS was added to ARL2BP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 AGT Arina Puzriakova Source Expert Review Green was added to AGT.
Source NHS GMS was added to AGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 AGRN Arina Puzriakova Source Expert Review Green was added to AGRN.
Source NHS GMS was added to AGRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NDUFB7 Arina Puzriakova Source Expert Review Green was added to NDUFB7.
Source NHS GMS was added to NDUFB7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green was removed from STR: DMPK_CTG.
Tag Q3_25_NHS_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.117 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: R21 Clinical Oversight Group comment: Agree that this should be approved by the STR group first
Fetal anomalies v6.117 ITGAV Eleanor Williams Phenotypes for gene: ITGAV were changed from Syndromic disease, MONDO:0002254 to syndromic disease, MONDO:0002254
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: AMBER
Fetal anomalies v6.116 ASXL1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 3rd Nov 2025.
Fetal anomalies v6.116 ASXL1 Ida Ertmanska Phenotypes for gene: ASXL1 were changed from BOHRING-OPITZ SYNDROME to Bohring-Opitz syndrome, OMIM:605039; Bohring-Opitz syndrome, MONDO:0011510
Fetal anomalies v6.115 SCN4A Arina Puzriakova Tag Q2_25_expert_review was removed from gene: SCN4A.
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Classified gene: KIAA0556 as Amber List (moderate evidence)
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber and tagging for additional GMS expert review to determine whether there is sufficient evidence to indicate that the phenotype is prenatally relevant.

The main finding that may plausibly be detected prenatally is cerebellar hypoplasia / molar tooth sign. Other possible fetal scan findings include: PMIDs 26714646 and 32164589 each reference one case with cleft lip and palate (although the latter had dual molecular findings) and PMID 40428346 had post-axial polydactyly. Although molar-tooth sign was present in a number of cases, there is no indication that prenatal abnormalities were detected in published cases.
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Gene: kiaa0556 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.114 KIAA0556 Arina Puzriakova Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26, OMIM:616784 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Fetal anomalies v6.113 KIAA0556 Arina Puzriakova Publications for gene: KIAA0556 were set to 27245168; 26714646
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: KIAA0556.
Tag Q3_25_expert_review tag was added to gene: KIAA0556.
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova reviewed gene: KIAA0556: Rating: AMBER; Mode of pathogenicity: None; Publications: 26714646, 27245168, 31197031, 31197031, 36580738, 40725402, 40428346, 32164589, 30982090; Phenotypes: Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: 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).; to: 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 v6.112 DISP1 Ida Ertmanska commented on gene: DISP1: Comment on mode of inheritance: 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. Gene tagged for expert review to decide the appropriate MOI.
Fetal anomalies v6.112 DISP1 Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram changed review comment from: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934).

In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants

Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen.

Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265)

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).

This gene should therefore remain green with Biallelic MOI on this panel.; to: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934).

In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants

Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen.

Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265)

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.; to: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green with biallelic MOI on this panel.
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Classified gene: LAMC3 as Green List (high evidence)
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Gene: lamc3 has been classified as Green List (High Evidence).
Fetal anomalies v6.111 CDK5 Eleanor Williams Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Fetal anomalies v6.110 SIX5 Arina Puzriakova Classified gene: SIX5 as Green List (high evidence)
Fetal anomalies v6.110 SIX5 Arina Puzriakova Added comment: Comment on list classification: As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, this gene should be considered for demotion to red rating in the next GMS update.
Fetal anomalies v6.110 SIX5 Arina Puzriakova Gene: six5 has been classified as Green List (High Evidence).
Fetal anomalies v6.109 SIX5 Arina Puzriakova reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v6.109 SIX5 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: SIX5.
Tag disputed tag was added to gene: SIX5.
Tag Q3_25_demote_red tag was added to gene: SIX5.
Fetal anomalies v6.109 SIX5 Arina Puzriakova Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME TYPE 2 to Branchiootorenal syndrome 2, OMIM:610896
Fetal anomalies v6.108 LAMC3 Achchuthan Shanmugasundram Publications for gene: LAMC3 were set to 30266093
Fetal anomalies v6.107 LAMC3 Achchuthan Shanmugasundram reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 26802095, 29247375, 30266093, 33639934, 34354730; Phenotypes: Cortical malformations, occipital, OMIM:614115, occipital pachygyria and polymicrogyria, MONDO:0013583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.107 LAMC3 Eleanor Williams Publications for gene: LAMC3 were set to
Fetal anomalies v6.106 LAMC3 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 21st October 2025
Fetal anomalies v6.106 LAMC3 Eleanor Williams Phenotypes for gene: LAMC3 were changed from OCCIPITAL CORTICAL MALFORMATIONS to Cortical malformations, occipital, OMIM:614115; occipital pachygyria and polymicrogyria, MONDO:0013583
Fetal anomalies v6.105 PTBP1 Arina Puzriakova edited their review of gene: PTBP1: Changed rating: GREEN; Changed publications to: 40965981; Changed phenotypes to: Neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.105 PTBP1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

Skeletal anomalies were seen in 24 (89%), with the most prominent abnormalities comprising shortening and dysplasia of long bones and phalanges. Radiographic features included brachymetacarpia, brachymetatarsia, brachydactyly, brachytelephalangy, brachymesophalangy, and rhizomelia. Advanced bone maturation, cone-shaped epiphyses, and other features such as vertebral dysplasia were also observed.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

Prenatal ultrasound was abnormal in thirteen (48%), revealing short femora (5/13, 38%), IUGR (31%), hydramnios (2/13, 15%), increased nuchal translucency (15%), asymmetry of heart cavities (1/13, 8%), and bilateral hydronephrosis (8%). It led to the diagnosis of skeletal dysplasia in two.
Fetal anomalies v6.105 PTBP1 Arina Puzriakova Tag Q3_25_NHS_review was removed from gene: PTBP1.
Fetal anomalies v6.105 PTBP1 Arina Puzriakova Entity copied from Skeletal dysplasia v8.20
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 v6.104 KIAA0556 Eleanor Williams commented on gene: KIAA0556
Fetal anomalies v6.104 KIAA0556 Eleanor Williams Tag new-gene-name tag was added to gene: KIAA0556.
Fetal anomalies v6.104 RBFOX2 Arina Puzriakova Phenotypes for gene: RBFOX2 were changed from Congenital heart disease, MONDO:0005453 to Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome, MONDO:0004933
Fetal anomalies v6.103 PLD1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PLD1.
Tag Q3_25_expert_review tag was added to gene: PLD1.
Fetal anomalies v6.103 PLD1 Arina Puzriakova commented on gene: PLD1: This gene was previously downgraded from Green to Amber following review by Jesse Hayesmoore highlighting the presence of homozygotes in population databases, including some patient variants. However, additional cases have continued to be published albeit often with limited information and no extensive functional studies. This gene-condition has been reviewed by multiple resources including:

- ClinGen: definitive (classified on 12-02-2024) - https://search.clinicalgenome.org/CCID:008897
- G2P: definitive (classified on 19-02-2025) - https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03704
- PanelApp Australia: green on multiple panels - https://panelapp-aus.org/panels/entities/PLD1
- OMIM (last updated on 30-09-2022) - https://www.omim.org/entry/212093

Given the classification on Genomics England PanelApp currently conflicts with multiple other resources, this gene will be flagged for additional expert review during the next GMS panel release.
Fetal anomalies v6.103 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 33645542; 27799408; 33142350
Fetal anomalies v6.102 PLD1 Arina Puzriakova Added comment: Comment on phenotypes: Updated OMIM:212093 phenotype from 'Cardiac valvular defect, developmental' to 'Cardiac valvular dysplasia 1' (accessed on 20-10-2025)
Fetal anomalies v6.102 PLD1 Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations to Cardiac valvular dysplasia 1, OMIM:212093; Congenital heart malformations
Fetal anomalies v6.101 PLD1 Arina Puzriakova edited their review of gene: PLD1: Added comment: Additional cases reported (not reviewed previously):

- PMID: 38171566 - based on the abstract (translated from Chinese, full-text not available) a fetus with generalized edema, complex cardiac malformation, abdominal effusion, and enhanced intestinal and renal parenchymal echoes was identified with compound heterozygous variants (c.1460G>A (p.W487*); c.2977C>T (p.R993*)) in the PLD1 gene. No functional studies mentioned.

- PMID: 39553471 - a fetus with compound heterozygous variants (c.1937G>C (p.G646A); c.1062-59A>G) was found with congenital heart disease including pulmonary atresia, regurgitation and tricuspid valve dysplasia. In silico analysis of c.1062-59A>G indicated the variant affected splicing, and subsequent RT-PCR and TA clone sequencing revealed a 76-bp intron retention and skipping of exon 11, causing a frameshift and premature stop codon in PLD1. Both variants were classified as VUS according to ACMG guidelines.

- PMID: 39681445 - title 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there is another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.; Changed publications to: 27799408, 33142350, 33645542, 35380090, 36923242, 37770978, 38171566, 39553471, 39681445; Changed phenotypes to: Cardiac valvular dysplasia 1, OMIM:212093; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v6.101 DISP1 Ida Ertmanska reviewed gene: DISP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38529886; Phenotypes: Holoprosencephaly 10, OMIM:621143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.101 LINC01082 Ida Ertmanska edited their review of gene: LINC01082: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.101 LINC01081 Ida Ertmanska edited their review of gene: LINC01081: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01081.
Tag Q3_25_promote_green tag was added to gene: LINC01081.
Tag Q3_25_expert_review tag was added to gene: LINC01081.
Tag Q3_25_NHS_review tag was added to gene: LINC01081.
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Classified gene: LINC01081 as Amber List (moderate evidence)
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Gene: linc01081 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.100 LINC01081 Achchuthan Shanmugasundram Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01082.
Tag Q3_25_promote_green tag was added to gene: LINC01082.
Tag Q3_25_expert_review tag was added to gene: LINC01082.
Tag Q3_25_NHS_review tag was added to gene: LINC01082.
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Classified gene: LINC01082 as Amber List (moderate evidence)
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Gene: linc01082 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.98 LINC01082 Achchuthan Shanmugasundram Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.97 LINC01082 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01082 Ida Ertmanska edited their review of gene: LINC01082: Changed publications to: 19500772, 23034409, 24842713, 27071622, 36157490, 40869921
Fetal anomalies v6.97 LINC01082 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common.

Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

Genomic positions reference (GRh37/hg19):
FOXF1 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01082 Ida Ertmanska Deleted their comment
Fetal anomalies v6.97 LINC01082 Ida Ertmanska commented on gene: LINC01082: Comment on list classification: Genes in the FOXF1 enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Hence, the testing region should be expanded to include the enhancer.
The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele.
Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.
Fetal anomalies v6.97 LINC01082 Ida Ertmanska reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.97 LINC01081 Ida Ertmanska edited their review of gene: LINC01081: Changed publications to: 19500772, 23034409, 24842713, 27071622, 36157490, 40869921
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.97 RASA1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 10 October 2025.
Fetal anomalies v6.97 RASA1 Achchuthan Shanmugasundram Phenotypes for gene: RASA1 were changed from PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION to Capillary malformation-arteriovenous malformation 1, OMIM:608354; capillary malformation-arteriovenous malformation 1, MONDO:0020783
Fetal anomalies v6.96 SLC46A1 Arina Puzriakova Phenotypes for gene: SLC46A1 were changed from HEREDITARY FOLATE MALABSORPTION to Folate malabsorption, hereditary, OMIM:229050
Fetal anomalies v6.95 DLD Arina Puzriakova Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY; LEIGH SYNDROME to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Fetal anomalies v6.94 SIK3 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 8th October 2025
Fetal anomalies v6.94 SIK3 Eleanor Williams Phenotypes for gene: SIK3 were changed from Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162; spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571
Fetal anomalies v6.93 DST Eleanor Williams Publications for gene: DST were set to 37431644; 40497796; 35942699
Fetal anomalies v6.92 DST Eleanor Williams Phenotypes for gene: DST were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168; arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952
Fetal anomalies v6.91 DST Eleanor Williams Publications for gene: DST were set to 37431644
Fetal anomalies v6.90 DST Eleanor Williams reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 40497796, 35942699; Phenotypes: arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.90 EMX2 Ida Ertmanska commented on gene: EMX2: Comment on list classification: There are at least 4 unrelated families where individuals harbouring de novo variants in EMX2 have schizencephaly - a rare severe brain malformation, leading to neurologic deficits and developmental delay (PMIDs: 8528262, 9153481, 9359037). However, the 1996-1997 studies are limited by their sequencing method (targeted gene sequencing). Subsequent studies of 3 different schizencephaly patient cohorts showed that none of the 175 affected individuals carried pathogenic EMX2 mutations (PMIDs: 17506092, 18409201, 20157829).
No other schizencephaly cases with EMX2 variants were published in literature since 1997. Other genes, such as SIX3 and SHH, have been putatively linked to schizencephaly (PMID: 20157829). Furthermore, schizencephaly may stem from non-genetic causes, such as in utero viral infections, teratogen exposure, maternal trauma, and more (PMID: 18409201). Due to outdated / conflicting evidence, this gene should be downgraded to Amber for Fetal anomalies.
Fetal anomalies v6.90 EMX2 Ida Ertmanska reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9153481, 9359037, 17506092, 18409201, 20157829; Phenotypes: Schizencephaly, OMIM:269160, schizencephaly, MONDO:0010011; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.90 ERCC1 Arina Puzriakova Phenotypes for gene: ERCC1 were changed from CEREBROOCULOFACIOSKELETAL SYNDROME 4; FANCONI ANEMIA to Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Fetal anomalies v6.89 EMX2 Eleanor Williams Tag Q3_25_expert_review tag was added to gene: EMX2.
Fetal anomalies v6.89 EMX2 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 29th September 2025
Fetal anomalies v6.89 EMX2 Eleanor Williams Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160; schizencephaly, MONDO:0010011
Fetal anomalies v6.88 EMX2 Eleanor Williams Publications for gene: EMX2 were set to
Fetal anomalies v6.87 EMX2 Eleanor Williams Tag Q3_25_demote_amber tag was added to gene: EMX2.
Fetal anomalies v6.87 VSX2 Arina Puzriakova Phenotypes for gene: VSX2 were changed from MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES; MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3; MICROPHTHALMIA ISOLATED TYPE 2 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092
Fetal anomalies v6.86 PDE12 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: PDE12.
Tag Q3_25_expert_review was removed from gene: PDE12.
Fetal anomalies v6.86 PDE12 Arina Puzriakova commented on gene: PDE12: Maintaining Amber rating following further consultation with the expert group - The concern is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal phenotype and there is not another cause of these abnormalities in these families.
Fetal anomalies v6.86 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Mitochondrial complex I deficiency, nuclear type 39 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v6.85 NDUFB7 Arina Puzriakova Tag Q1_25_ expert_review was removed from gene: NDUFB7.
Tag Q3_25_NHS_review tag was added to gene: NDUFB7.
Fetal anomalies v6.85 NDUFB7 Arina Puzriakova commented on gene: NDUFB7: Following further consultation with the expert group, it was decided that this gene should be rated Green on this panel as there is sufficient evidence to support an association with a prenatal phenotype.
Fetal anomalies v6.85 FLII Arina Puzriakova Tag Q3_25_promote_green was removed from gene: FLII.
Tag Q3_25_expert_review was removed from gene: FLII.
Tag Q3_25_NHS_review was removed from gene: FLII.
Fetal anomalies v6.85 FLII Arina Puzriakova commented on gene: FLII: Maintaining as Amber following further consultation with the expert group - this gene causes isolated cardiac anomalies which is not an indication for R21 fetal anomaly testing. However, we do want to monitor in case of new reports where it is not isolated.
Fetal anomalies v6.85 CCT6A Arina Puzriakova Tag gene-checked tag was added to gene: CCT6A.
Fetal anomalies v6.85 EVC2 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: EVC2.
Fetal anomalies v6.85 CTGF Arina Puzriakova Phenotypes for gene: CTGF were changed from kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510
Fetal anomalies v6.84 EVC2 Eleanor Williams Publications for gene: EVC2 were set to
Fetal anomalies v6.83 EVC2 Eleanor Williams Added comment: Comment on phenotypes: Phenotypes accessed in OMIM on 22nd September 2025
Fetal anomalies v6.83 EVC2 Eleanor Williams Phenotypes for gene: EVC2 were changed from ELLIS-VAN CREVELD SYNDROME; ACROFACIAL DYSOSTOSIS WEYERS TYPE to Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
Fetal anomalies v6.82 FLII Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: FLII.
Tag Q3_25_expert_review tag was added to gene: FLII.
Tag Q3_25_NHS_review tag was added to gene: FLII.
Fetal anomalies v6.82 FLII Arina Puzriakova changed review comment from: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.; to: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional review as this rating contradicts the review comment "Sufficient evidence for gene-disease association and may present prenatally with structural heart defects in some cases" and this gene is tagged for promotion to Green on the R135 Paediatric or syndromic cardiomyopathy panel.
Fetal anomalies v6.82 SIRT6 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SIRT6.
Tag Q2_25_expert_review was removed from gene: SIRT6.
Fetal anomalies v6.82 C14orf80 Arina Puzriakova commented on gene: C14orf80: Added new-gene-name tag as the latest HGNC symbol for C14orf80 is TEDC1
Fetal anomalies v6.82 C14orf80 Arina Puzriakova Tag new-gene-name tag was added to gene: C14orf80.
Fetal anomalies v6.82 PDE12 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: PDE12.
Fetal anomalies v6.82 PDE12 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by Achchuthan Shanmugasundram but then as Amber by Alice Gardham based on the same evidence.
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by me but then as Amber by Vicki Harrison based on the same evidence.
Fetal anomalies v6.82 ITGAV Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.

Previously curated as Amber as only one family had fetal cases reported on; however as noted in Natalie Canham review, all affected individuals have brain anomalies which could be detected prenatally. Therefore this gene can be rated Green.
Fetal anomalies v6.82 FAAP100 Arina Puzriakova Phenotypes for gene: FAAP100 were changed from Fanconi anemia to Fanconi anemia, complementation group X, OMIM:621258
Fetal anomalies v6.81 FAAP100 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: FAAP100.
Tag Q3_25_NHS_review tag was added to gene: FAAP100.
Fetal anomalies v6.81 BORCS5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: BORCS5.
Tag Q3_25_NHS_review tag was added to gene: BORCS5.
Fetal anomalies v6.81 MAGED2 Arina Puzriakova Phenotypes for gene: MAGED2 were changed from Bartter syndrome, type 5, antenatal, transient to Bartter syndrome, type 5, antenatal, transient, OMIM:300971
Fetal anomalies v6.80 MAGED2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MAGED2.
Tag Q3_25_NHS_review tag was added to gene: MAGED2.
Fetal anomalies v6.80 ZEB1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ZEB1.
Tag Q3_25_NHS_review tag was added to gene: ZEB1.
Fetal anomalies v6.80 WDR47 Arina Puzriakova Phenotypes for gene: WDR47 were changed from Complex neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.79 WDR47 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: WDR47.
Tag Q3_25_NHS_review tag was added to gene: WDR47.
Fetal anomalies v6.79 UNC13D Arina Puzriakova Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898; Hemophagocytic lymphohistiocytosis, familial, 3 to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898
Fetal anomalies v6.78 UNC13D Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: UNC13D.
Tag Q3_25_NHS_review tag was added to gene: UNC13D.
Fetal anomalies v6.78 TCP1 Arina Puzriakova Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
Fetal anomalies v6.77 TCP1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: TCP1.
Tag Q3_25_NHS_review tag was added to gene: TCP1.
Fetal anomalies v6.77 STX5 Arina Puzriakova Phenotypes for gene: STX5 were changed from ?Congenital disorder of glycosylation, type IIaa, OMIM:620454; Congenital disorder of glycosylation, type IIaa to Congenital disorder of glycosylation, type IIaa, OMIM:620454
Fetal anomalies v6.76 STX5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: STX5.
Tag Q3_25_NHS_review tag was added to gene: STX5.
Fetal anomalies v6.76 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from X-linked intellectual developmental disorder-114 to Intellectual developmental disorder, X-linked 114, OMIM:301134
Fetal anomalies v6.75 SRPK3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SRPK3.
Tag Q3_25_NHS_review tag was added to gene: SRPK3.
Fetal anomalies v6.75 SPTA1 Arina Puzriakova Tag watchlist was removed from gene: SPTA1.
Tag Q3_25_promote_green tag was added to gene: SPTA1.
Tag Q3_25_NHS_review tag was added to gene: SPTA1.
Fetal anomalies v6.75 SPOUT1 Arina Puzriakova Phenotypes for gene: SPOUT1 were changed from Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Fetal anomalies v6.74 SPOUT1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SPOUT1.
Tag Q3_25_NHS_review tag was added to gene: SPOUT1.
Fetal anomalies v6.74 SLC35A3 Arina Puzriakova Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Fetal anomalies v6.73 SLC35A3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC35A3.
Tag Q3_25_NHS_review tag was added to gene: SLC35A3.
Fetal anomalies v6.73 SLC12A9 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC12A9.
Tag Q3_25_NHS_review tag was added to gene: SLC12A9.
Fetal anomalies v6.73 SENP7 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SENP7.
Tag Q3_25_NHS_review tag was added to gene: SENP7.
Fetal anomalies v6.73 RPL26 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RPL26.
Tag Q3_25_NHS_review tag was added to gene: RPL26.
Fetal anomalies v6.73 RNU5B-1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RNU5B-1.
Tag Q3_25_NHS_review tag was added to gene: RNU5B-1.
Fetal anomalies v6.73 RIPPLY2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RIPPLY2.
Tag Q3_25_NHS_review tag was added to gene: RIPPLY2.
Fetal anomalies v6.73 RAB11B Arina Puzriakova Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Fetal anomalies v6.72 RAB11B Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RAB11B.
Tag Q3_25_NHS_review tag was added to gene: RAB11B.
Fetal anomalies v6.72 PUS3 Arina Puzriakova Phenotypes for gene: PUS3 were changed from Neurodevelopmental disorder with microcephaly and gray sclerae to Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051
Fetal anomalies v6.71 PUS3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PUS3.
Tag Q3_25_NHS_review tag was added to gene: PUS3.
Fetal anomalies v6.71 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from COWDEN DISEASE; Cowden syndrome 1; LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS to Cowden syndrome 1, OMIM:158350
Fetal anomalies v6.70 PTEN Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PTEN.
Tag Q3_25_NHS_review tag was added to gene: PTEN.
Fetal anomalies v6.70 PSKH1 Arina Puzriakova Phenotypes for gene: PSKH1 were changed from hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, OMIM:620962
Fetal anomalies v6.69 PSKH1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PSKH1.
Tag Q3_25_NHS_review tag was added to gene: PSKH1.
Fetal anomalies v6.69 PPFIBP1 Arina Puzriakova Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Fetal anomalies v6.68 PPFIBP1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PPFIBP1.
Tag Q3_25_NHS_review tag was added to gene: PPFIBP1.
Fetal anomalies v6.68 PPFIA3 Arina Puzriakova Phenotypes for gene: PPFIA3 were changed from Paul-Chao neurodevelopmental syndrome to Paul-Chao neurodevelopmental syndrome, OMIM:621122
Fetal anomalies v6.67 PPFIA3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PPFIA3.
Tag Q3_25_NHS_review tag was added to gene: PPFIA3.
Fetal anomalies v6.67 PLAA Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PLAA.
Tag Q3_25_NHS_review tag was added to gene: PLAA.
Fetal anomalies v6.67 PIGW Arina Puzriakova Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11 to Glycosylphosphatidylinositol biosynthesis defect 11, OMIM:616025
Fetal anomalies v6.66 PIGW Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGW.
Tag Q3_25_NHS_review tag was added to gene: PIGW.
Fetal anomalies v6.66 PIGP Arina Puzriakova Phenotypes for gene: PIGP were changed from Developmental and epileptic encephalopathy 55 to Developmental and epileptic encephalopathy 55, OMIM:617599
Fetal anomalies v6.65 PIGP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGP.
Tag Q3_25_NHS_review tag was added to gene: PIGP.
Fetal anomalies v6.65 PIGG Arina Puzriakova Phenotypes for gene: PIGG were changed from Intellectual Disability with Seizures and Hypotonia; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917
Fetal anomalies v6.64 PIGG Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGG.
Tag Q3_25_NHS_review tag was added to gene: PIGG.
Fetal anomalies v6.64 PI4KA Arina Puzriakova Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v6.63 PI4KA Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PI4KA.
Tag Q3_25_NHS_review tag was added to gene: PI4KA.
Fetal anomalies v6.63 PHF5A Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PHF5A.
Tag Q3_25_NHS_review tag was added to gene: PHF5A.
Fetal anomalies v6.63 PAK2 Arina Puzriakova Phenotypes for gene: PAK2 were changed from Knobloch syndrome 2 to Knobloch syndrome 2, OMIM:618458
Fetal anomalies v6.62 PAK2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAK2.
Tag Q3_25_NHS_review tag was added to gene: PAK2.
Fetal anomalies v6.62 PAICS Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAICS.
Tag Q3_25_NHS_review tag was added to gene: PAICS.
Fetal anomalies v6.62 ODC1 Arina Puzriakova Phenotypes for gene: ODC1 were changed from Bachmann-Bupp syndrome to Bachmann-Bupp syndrome, OMIM:619075
Fetal anomalies v6.61 ODC1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ODC1.
Tag Q3_25_NHS_review tag was added to gene: ODC1.
Fetal anomalies v6.61 NR2F1 Arina Puzriakova Phenotypes for gene: NR2F1 were changed from BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME; Bosch-Boonstra-Schaaf optic atrophy syndrome to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
Fetal anomalies v6.60 NR2F1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: NR2F1.
Tag Q3_25_NHS_review tag was added to gene: NR2F1.
Fetal anomalies v6.60 NEXN Arina Puzriakova Tag watchlist was removed from gene: NEXN.
Tag Q3_25_promote_green tag was added to gene: NEXN.
Tag Q3_25_NHS_review tag was added to gene: NEXN.
Fetal anomalies v6.60 NEPRO Arina Puzriakova commented on gene: NEPRO: The 'new-gene-name' tag has been added to this gene as the latest HGNC gene symbol for NEPRO is RMP64.
Fetal anomalies v6.60 NEPRO Arina Puzriakova Tag new-gene-name tag was added to gene: NEPRO.
Tag Q3_25_promote_green tag was added to gene: NEPRO.
Tag Q3_25_NHS_review tag was added to gene: NEPRO.
Fetal anomalies v6.60 MSL2 Arina Puzriakova Phenotypes for gene: MSL2 were changed from Karayol-Borroto-Haghshenas neurodevelopmental syndrome to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
Fetal anomalies v6.59 MIA3 Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: MIA3.
Fetal anomalies v6.59 MSL2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MSL2.
Tag Q3_25_NHS_review tag was added to gene: MSL2.
Fetal anomalies v6.59 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia-2 with hearing loss and diabetes to Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.58 MIA3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MIA3.
Fetal anomalies v6.58 MED11 Arina Puzriakova Phenotypes for gene: MED11 were changed from Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
Fetal anomalies v6.57 MED11 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MED11.
Tag Q3_25_NHS_review tag was added to gene: MED11.
Fetal anomalies v6.57 MAPK1 Arina Puzriakova Phenotypes for gene: MAPK1 were changed from Noonan syndrome 13; Noonan syndrome 13, OMIM:619087 to Noonan syndrome 13, OMIM:619087
Fetal anomalies v6.56 MAPK1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MAPK1.
Tag Q3_25_NHS_review tag was added to gene: MAPK1.
Fetal anomalies v6.56 LSS Arina Puzriakova Phenotypes for gene: LSS were changed from Cataract 44; Alopecia-intellectual disability syndrome 4 to Alopecia-intellectual disability syndrome 4, OMIM:618840; Cataract 44, OMIM:616509
Fetal anomalies v6.55 LSS Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LSS.
Tag Q3_25_NHS_review tag was added to gene: LSS.
Fetal anomalies v6.55 LGI3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LGI3.
Tag Q3_25_NHS_review tag was added to gene: LGI3.
Fetal anomalies v6.55 LDB1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LDB1.
Tag Q3_25_NHS_review tag was added to gene: LDB1.
Fetal anomalies v6.55 LAGE3 Arina Puzriakova Phenotypes for gene: LAGE3 were changed from Galloway-Mowat syndrome 2, X-linked; Galloway-Mowat syndrome 2, X-linked, OMIM:301006 to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Fetal anomalies v6.54 LAGE3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LAGE3.
Tag Q3_25_NHS_review tag was added to gene: LAGE3.
Fetal anomalies v6.54 C12orf66 Arina Puzriakova commented on gene: C12orf66: Added new-gene-name tag, new approved HGNC gene symbol for C12orf66 is KICS2
Fetal anomalies v6.54 C12orf66 Arina Puzriakova Tag new-gene-name tag was added to gene: C12orf66.
Tag Q3_25_promote_green tag was added to gene: C12orf66.
Tag Q3_25_NHS_review tag was added to gene: C12orf66.
Fetal anomalies v6.54 C12orf66 Arina Puzriakova Phenotypes for gene: C12orf66 were changed from Intellectual developmental disorder, autosomal recessive 83 to Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Fetal anomalies v6.53 ITGAV Arina Puzriakova Phenotypes for gene: ITGAV were changed from syndromic disease, MONDO:0002254; Syndromic disease, MONDO:0002254 to Syndromic disease, MONDO:0002254
Fetal anomalies v6.52 ITGAV Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ITGAV.
Tag Q3_25_NHS_review tag was added to gene: ITGAV.
Fetal anomalies v6.52 IFT27 Arina Puzriakova Phenotypes for gene: IFT27 were changed from Bardet-Biedl syndrome 19, OMIM:615996; Bardet-Biedl syndrome 19 to Bardet-Biedl syndrome 19, OMIM:615996
Fetal anomalies v6.51 IFT27 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: IFT27.
Tag Q3_25_NHS_review tag was added to gene: IFT27.
Fetal anomalies v6.51 HNRNPU Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: HNRNPU.
Tag Q3_25_NHS_review tag was added to gene: HNRNPU.
Fetal anomalies v6.51 HNRNPU Arina Puzriakova Phenotypes for gene: HNRNPU were changed from EPILEPTIC ENCEPHALOPATHY; Developmental and epileptic encephalopathy 54 to Developmental and epileptic encephalopathy 54, OMIM:617391
Fetal anomalies v6.50 HDAC3 Arina Puzriakova Phenotypes for gene: HDAC3 were changed from HDAC3-related neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.49 HDAC3 Arina Puzriakova Tag gene-checked tag was added to gene: HDAC3.
Fetal anomalies v6.49 HDAC3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: HDAC3.
Tag Q3_25_NHS_review tag was added to gene: HDAC3.
Fetal anomalies v6.49 GNAI2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GNAI2.
Tag Q3_25_NHS_review tag was added to gene: GNAI2.
Fetal anomalies v6.49 GEMIN4 Arina Puzriakova Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Fetal anomalies v6.48 GEMIN4 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GEMIN4.
Tag Q3_25_NHS_review tag was added to gene: GEMIN4.
Fetal anomalies v6.48 GALT Arina Puzriakova Phenotypes for gene: GALT were changed from Galactosemia; GALACTOSEMIA to Galactosemia, OMIM:230400
Fetal anomalies v6.47 GALT Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GALT.
Tag Q3_25_NHS_review tag was added to gene: GALT.
Fetal anomalies v6.47 EXOSC8 Arina Puzriakova Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081; Pontocerebellar hypoplasia type 1C to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Fetal anomalies v6.46 EXOSC8 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EXOSC8.
Tag Q3_25_NHS_review tag was added to gene: EXOSC8.
Fetal anomalies v6.46 EXOC6B Arina Puzriakova Phenotypes for gene: EXOC6B were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 3 to Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
Fetal anomalies v6.45 EXOC6B Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EXOC6B.
Tag Q3_25_NHS_review tag was added to gene: EXOC6B.
Fetal anomalies v6.45 EFL1 Arina Puzriakova Phenotypes for gene: EFL1 were changed from Shwachman-Diamond syndrome 2 to Shwachman-Diamond syndrome 2, OMIM:617941
Fetal anomalies v6.44 EFL1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EFL1.
Tag Q3_25_NHS_review tag was added to gene: EFL1.
Fetal anomalies v6.44 EEFSEC Arina Puzriakova Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder with progressive spasticity and brain abnormalities to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102
Fetal anomalies v6.43 EEFSEC Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EEFSEC.
Tag Q3_25_NHS_review tag was added to gene: EEFSEC.
Fetal anomalies v6.43 DST Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DST.
Tag Q3_25_NHS_review tag was added to gene: DST.
Fetal anomalies v6.43 DSE Arina Puzriakova Phenotypes for gene: DSE were changed from Ehlers-Danlos syndrome, musculocontractural type 2 to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Fetal anomalies v6.42 DSE Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DSE.
Tag Q3_25_NHS_review tag was added to gene: DSE.
Fetal anomalies v6.42 DHX9 Arina Puzriakova Phenotypes for gene: DHX9 were changed from Intellectual developmental disorder, autosomal dominant 75 to Intellectual developmental disorder, autosomal dominant 75, OMIM:620988
Fetal anomalies v6.41 DHX9 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHX9.
Tag Q3_25_NHS_review tag was added to gene: DHX9.
Fetal anomalies v6.41 DHRSX Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHRSX.
Tag Q3_25_NHS_review tag was added to gene: DHRSX.
Fetal anomalies v6.41 COQ2 Arina Puzriakova Phenotypes for gene: COQ2 were changed from COENZYME Q10 DEFICIENCY; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Fetal anomalies v6.40 COQ2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COQ2.
Tag Q3_25_NHS_review tag was added to gene: COQ2.
Fetal anomalies v6.40 COMP Arina Puzriakova Phenotypes for gene: COMP were changed from Pseudoachondroplasia; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; Epiphyseal dysplasia, multiple, 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA to Epiphyseal dysplasia, multiple, 1, OMIM:132400; Pseudoachondroplasia, OMIM:177170
Fetal anomalies v6.39 COMP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COMP.
Tag Q3_25_NHS_review tag was added to gene: COMP.
Fetal anomalies v6.39 COL25A1 Arina Puzriakova Phenotypes for gene: COL25A1 were changed from Arthrogryposis multiplex congenita, MONDO:0015168; Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168
Fetal anomalies v6.38 COL25A1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COL25A1.
Tag Q3_25_NHS_review tag was added to gene: COL25A1.
Fetal anomalies v6.38 C1orf127 Arina Puzriakova Phenotypes for gene: C1orf127 were changed from Heterotaxy, visceral, 14, autosomal; Heterotaxy, visceral, 14, autosomal, OMIM:621080 to Heterotaxy, visceral, 14, autosomal, OMIM:621080
Fetal anomalies v6.37 CELSR1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: CELSR1.
Tag Q3_25_NHS_review tag was added to gene: CELSR1.
Fetal anomalies v6.37 CELSR1 Arina Puzriakova Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, OMIM:619319; Lymphatic malformation-9 to Lymphatic malformation 9, OMIM:619319
Fetal anomalies v6.36 CDK5 Arina Puzriakova Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
Fetal anomalies v6.35 CDK5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: CDK5.
Tag Q3_25_NHS_review tag was added to gene: CDK5.
Fetal anomalies v6.35 CTGF Arina Puzriakova Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510
Fetal anomalies v6.34 CTGF Arina Puzriakova Tag new-gene-name tag was added to gene: CTGF.
Tag Q3_25_promote_green tag was added to gene: CTGF.
Tag Q3_25_NHS_review tag was added to gene: CTGF.
Fetal anomalies v6.34 BHLHE22 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: BHLHE22.
Tag Q3_25_NHS_review tag was added to gene: BHLHE22.
Fetal anomalies v6.34 ARL6IP1 Arina Puzriakova Tag Q3_24_NHS_review tag was added to gene: ARL6IP1.
Tag Q3_25_promote_green tag was added to gene: ARL6IP1.
Fetal anomalies v6.34 ARL2BP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ARL2BP.
Tag Q3_25_NHS_review tag was added to gene: ARL2BP.
Fetal anomalies v6.34 ARL2BP Arina Puzriakova Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434; Situs Inversus
Fetal anomalies v6.33 AGT Arina Puzriakova Phenotypes for gene: AGT were changed from Renal tubular dysgenesis, OMIM:267430; Renal tubular dysgenesis to Renal tubular dysgenesis, OMIM:267430
Fetal anomalies v6.32 AGT Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: AGT.
Tag Q3_25_NHS_review tag was added to gene: AGT.
Fetal anomalies v6.32 AGRN Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: AGRN.
Tag Q3_25_NHS_review tag was added to gene: AGRN.
Fetal anomalies v6.32 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects to Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Fetal anomalies v6.31 NODAL Arina Puzriakova Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5; HETEROTAXY SYNDROME to Heterotaxy, visceral, 5, OMIM:270100
Fetal anomalies v6.30 NODAL Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: NODAL.
Tag Q3_25_demote_red tag was added to gene: NODAL.
Fetal anomalies v6.30 MYH9 Arina Puzriakova Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17; MAY-HEGGLIN ANOMALY; SEBASTIAN SYNDROME; FECHTNER SYNDROME; EPSTEIN SYNDROME; Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS to Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Fetal anomalies v6.29 MYH9 Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: MYH9.
Tag Q3_25_demote_red tag was added to gene: MYH9.
Fetal anomalies v6.29 GNS Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: GNS.
Tag Q3_25_demote_amber tag was added to gene: GNS.
Fetal anomalies v6.29 CDH11 Arina Puzriakova reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAAP100 Arina Puzriakova reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS5 Arina Puzriakova reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAGED2 Arina Puzriakova reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNRF3 Arina Puzriakova reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNHIT3 Arina Puzriakova reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNF808 Arina Puzriakova reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZMYND11 Arina Puzriakova reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZEB1 Arina Puzriakova reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 WDR47 Arina Puzriakova reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC50 Arina Puzriakova reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC13D Arina Puzriakova edited their review of gene: UNC13D: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 TPM1 Arina Puzriakova reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C14orf80 Arina Puzriakova reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCP1 Arina Puzriakova reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCF20 Arina Puzriakova reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TAAR1 Arina Puzriakova reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SUPT7L Arina Puzriakova reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STXBP2 Arina Puzriakova reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX5 Arina Puzriakova reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX11 Arina Puzriakova reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRPK3 Arina Puzriakova reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRP54 Arina Puzriakova reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SPTA1 Arina Puzriakova edited their review of gene: SPTA1: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 SPOUT1 Arina Puzriakova reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SNAPC4 Arina Puzriakova reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC35A3 Arina Puzriakova reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC30A5 Arina Puzriakova reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC19A1 Arina Puzriakova reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC12A9 Arina Puzriakova reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SIRT6 Arina Puzriakova reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SENP7 Arina Puzriakova reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SEL1L Arina Puzriakova reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RPL26 Arina Puzriakova reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5B-1 Arina Puzriakova reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5A-1 Arina Puzriakova reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNF31 Arina Puzriakova reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RIPPLY2 Arina Puzriakova reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RBFOX2 Arina Puzriakova reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RAB11B Arina Puzriakova reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PYGL Arina Puzriakova reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PUS3 Arina Puzriakova reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PURA Arina Puzriakova reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PTEN Arina Puzriakova reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PSKH1 Arina Puzriakova reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PROC Arina Puzriakova reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIBP1 Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIA3 Arina Puzriakova reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 POU3F3 Arina Puzriakova reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLVAP Arina Puzriakova reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLAA Arina Puzriakova reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGW Arina Puzriakova reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGQ Arina Puzriakova reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGP Arina Puzriakova reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGM Arina Puzriakova reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGG Arina Puzriakova reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGC Arina Puzriakova reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PI4KA Arina Puzriakova reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PHF5A Arina Puzriakova reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDE12 Arina Puzriakova reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDCD2 Arina Puzriakova reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAK2 Arina Puzriakova reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAICS Arina Puzriakova reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 OSBPL9 Arina Puzriakova reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ODC1 Arina Puzriakova reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NUP214 Arina Puzriakova reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NT5E Arina Puzriakova reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NR2F1 Arina Puzriakova reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NODAL Arina Puzriakova reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NMNAT1 Arina Puzriakova reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NKX2-6 Arina Puzriakova reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NFASC Arina Puzriakova reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEXN Arina Puzriakova edited their review of gene: NEXN: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 NEUROD1 Arina Puzriakova reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEPRO Arina Puzriakova reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.29 NAGS Arina Puzriakova reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NAGLU Arina Puzriakova reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYL2 Arina Puzriakova reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYH9 Arina Puzriakova reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MSL2 Arina Puzriakova reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MPL Arina Puzriakova reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MIA3 Arina Puzriakova reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MET Arina Puzriakova reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MED11 Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAPK1 Arina Puzriakova reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAP3K3 Arina Puzriakova reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAN2B2 Arina Puzriakova reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAL Arina Puzriakova reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LSS Arina Puzriakova reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LRRC8C Arina Puzriakova reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LIPN Arina Puzriakova reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LGI3 Arina Puzriakova reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LDB1 Arina Puzriakova reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LAGE3 Arina Puzriakova reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KMT2E Arina Puzriakova reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C12orf66 Arina Puzriakova reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM6B Arina Puzriakova reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM1A Arina Puzriakova reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNH2 Arina Puzriakova reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNB1 Arina Puzriakova reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KBTBD2 Arina Puzriakova reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KAT7 Arina Puzriakova reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 JPH1 Arina Puzriakova reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ITGAV Arina Puzriakova reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IRF4 Arina Puzriakova reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IFT27 Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HNRNPU Arina Puzriakova reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HIRA Arina Puzriakova reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HECTD1 Arina Puzriakova reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HDAC3 Arina Puzriakova reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GUK1 Arina Puzriakova reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GTPBP1 Arina Puzriakova reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNS Arina Puzriakova reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNPNAT1 Arina Puzriakova reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNAI2 Arina Puzriakova reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GEMIN4 Arina Puzriakova reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GDAP1 Arina Puzriakova reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GATA5 Arina Puzriakova reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GALT Arina Puzriakova reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 G6PD Arina Puzriakova reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLVCR1 Arina Puzriakova reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLII Arina Puzriakova reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FGG Arina Puzriakova reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXW11 Arina Puzriakova reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXO22 Arina Puzriakova reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAM177A1 Arina Puzriakova reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOSC8 Arina Puzriakova reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOC6B Arina Puzriakova reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ERG Arina Puzriakova reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EFL1 Arina Puzriakova reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EEFSEC Arina Puzriakova reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DVL2 Arina Puzriakova reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DTNA Arina Puzriakova reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DST Arina Puzriakova reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSE Arina Puzriakova reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSC2 Arina Puzriakova reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DOHH Arina Puzriakova reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DNAJC21 Arina Puzriakova reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHX9 Arina Puzriakova reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHRSX Arina Puzriakova reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DDX17 Arina Puzriakova reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DAND5 Arina Puzriakova reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CYP24A1 Arina Puzriakova reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COQ2 Arina Puzriakova reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COMP Arina Puzriakova reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COL25A1 Arina Puzriakova reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C1orf127 Arina Puzriakova commented on gene: C1orf127: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Fetal anomalies v6.29 CHAF1A Arina Puzriakova reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CFI Arina Puzriakova reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CELSR1 Arina Puzriakova edited their review of gene: CELSR1: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 CDK5 Arina Puzriakova reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT8 Arina Puzriakova reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT6A Arina Puzriakova reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT3 Arina Puzriakova reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CTGF Arina Puzriakova reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BRD2 Arina Puzriakova reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS8 Arina Puzriakova reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BICRA Arina Puzriakova reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BHLHE22 Arina Puzriakova reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BAIAP2 Arina Puzriakova reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ASCC3 Arina Puzriakova reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARPC5 Arina Puzriakova reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL6IP1 Arina Puzriakova reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL2BP Arina Puzriakova reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 AGT Arina Puzriakova edited their review of gene: AGT: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 AGRN Arina Puzriakova edited their review of gene: AGRN: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 ACTN2 Arina Puzriakova reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ACO2 Arina Puzriakova edited their review of gene: ACO2: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.28 CDH11 Natalie Chandler commented on gene: CDH11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAAP100 Sarah Graham commented on gene: FAAP100: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS5 Sarah Graham commented on gene: BORCS5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAGED2 Sarah Graham commented on gene: MAGED2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNRF3 Sarah Graham commented on gene: ZNRF3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNHIT3 Sarah Graham commented on gene: ZNHIT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNF808 Elizabeth Wall commented on gene: ZNF808: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZMYND11 Natalie Bibb commented on gene: ZMYND11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZEB1 Sarah Graham commented on gene: ZEB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 WDR47 Sarah Graham commented on gene: WDR47: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC50 Sarah Graham commented on gene: UNC50: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC13D Anna de Burca commented on gene: UNC13D: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TPM1 Alice Gardham commented on gene: TPM1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C14orf80 Sunayna Best commented on gene: C14orf80: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCP1 Natalie Bibb commented on gene: TCP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCF20 Stephanie Allen commented on gene: TCF20: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TAAR1 Sarah Graham commented on gene: TAAR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SUPT7L Soo-Mi Park commented on gene: SUPT7L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STXBP2 Alice Gardham commented on gene: STXBP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX5 Sahar Mansour commented on gene: STX5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX11 Vicki Harrison commented on gene: STX11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRPK3 Sarah Graham commented on gene: SRPK3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRP54 Stephanie Allen commented on gene: SRP54: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPTA1 Sarah Graham commented on gene: SPTA1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPOUT1 Sunayna Best commented on gene: SPOUT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SNAPC4 Esther Kinning commented on gene: SNAPC4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC35A3 Sunayna Best commented on gene: SLC35A3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC30A5 Natalie Chandler commented on gene: SLC30A5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC19A1 Soo-Mi Park commented on gene: SLC19A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC12A9 Sarah Graham commented on gene: SLC12A9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SIRT6 Natalie Canham commented on gene: SIRT6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SENP7 Natalie Bibb commented on gene: SENP7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SEL1L Anna de Burca commented on gene: SEL1L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RPL26 Elizabeth Wall commented on gene: RPL26: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5B-1 Natalie Chandler commented on gene: RNU5B-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5A-1 Natalie Chandler commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNF31 Natalie Chandler commented on gene: RNF31: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RIPPLY2 Sahar Mansour commented on gene: RIPPLY2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RBFOX2 Anna de Burca commented on gene: RBFOX2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RAB11B Sahar Mansour commented on gene: RAB11B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PYGL Soo-Mi Park commented on gene: PYGL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PUS3 Elizabeth Scotchman commented on gene: PUS3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PURA Natalie Canham commented on gene: PURA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PTEN Sunayna Best commented on gene: PTEN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PSKH1 Sarah Graham commented on gene: PSKH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PROC Elizabeth Wall commented on gene: PROC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIBP1 Stephanie Allen commented on gene: PPFIBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIA3 Stephanie Allen commented on gene: PPFIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 POU3F3 Natalie Chandler commented on gene: POU3F3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLVAP Alice Gardham commented on gene: PLVAP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLAA Stephanie Allen commented on gene: PLAA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGW Sahar Mansour commented on gene: PIGW: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGQ Esther Kinning commented on gene: PIGQ: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGP Elizabeth Wall commented on gene: PIGP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGM Elizabeth Scotchman commented on gene: PIGM: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGG Anna de Burca commented on gene: PIGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGC Alice Gardham commented on gene: PIGC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PI4KA Anna de Burca commented on gene: PI4KA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PHF5A Vicki Harrison commented on gene: PHF5A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDE12 Alice Gardham commented on gene: PDE12: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDCD2 Soo-Mi Park commented on gene: PDCD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAK2 Sarah Graham commented on gene: PAK2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAICS Sunayna Best commented on gene: PAICS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 OSBPL9 Natalie Chandler commented on gene: OSBPL9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ODC1 Anna de Burca commented on gene: ODC1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NUP214 Stephanie Allen commented on gene: NUP214: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NT5E Natalie Chandler commented on gene: NT5E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NR2F1 Soo-Mi Park commented on gene: NR2F1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NODAL Natalie Chandler commented on gene: NODAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NMNAT1 Natalie Chandler commented on gene: NMNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NKX2-6 Sunayna Best commented on gene: NKX2-6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NFASC Natalie Bibb commented on gene: NFASC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEXN Sarah Graham commented on gene: NEXN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEUROD1 Soo-Mi Park commented on gene: NEUROD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEPRO Natalie Canham commented on gene: NEPRO: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NDUFB7 Vicki Harrison commented on gene: NDUFB7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGS Elizabeth Wall commented on gene: NAGS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGLU Sarah Graham commented on gene: NAGLU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYL2 Vicki Harrison commented on gene: MYL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYH9 Natalie Chandler commented on gene: MYH9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MSL2 Natalie Chandler commented on gene: MSL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MPL Elizabeth Scotchman commented on gene: MPL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MIA3 Sarah Graham commented on gene: MIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MET Stephanie Allen commented on gene: MET: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MED11 Soo-Mi Park commented on gene: MED11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAPK1 Sarah Graham commented on gene: MAPK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAP3K3 Alice Gardham commented on gene: MAP3K3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAN2B2 Sarah Graham commented on gene: MAN2B2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAL Sahar Mansour commented on gene: MAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LSS Natalie Chandler commented on gene: LSS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LRRC8C Vicki Harrison commented on gene: LRRC8C: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LIPN Stephanie Allen commented on gene: LIPN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LGI3 Soo-Mi Park commented on gene: LGI3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LDB1 Vicki Harrison commented on gene: LDB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LAGE3 Natalie Chandler commented on gene: LAGE3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KMT2E Natalie Bibb commented on gene: KMT2E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C12orf66 Sahar Mansour commented on gene: C12orf66: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM6B Sunayna Best commented on gene: KDM6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM1A Esther Kinning commented on gene: KDM1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNH2 Sahar Mansour commented on gene: KCNH2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNB1 Soo-Mi Park commented on gene: KCNB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KBTBD2 Esther Kinning commented on gene: KBTBD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KAT7 Natalie Chandler commented on gene: KAT7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 JPH1 Sarah Graham commented on gene: JPH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ITGAV Natalie Canham commented on gene: ITGAV: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IRF4 Natalie Chandler commented on gene: IRF4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IFT27 Sahar Mansour commented on gene: IFT27: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HNRNPU Sarah Graham commented on gene: HNRNPU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HIRA Sarah Graham commented on gene: HIRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HECTD1 Sarah Graham commented on gene: HECTD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HDAC3 Sarah Graham commented on gene: HDAC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GUK1 Esther Kinning commented on gene: GUK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GTPBP1 Natalie Chandler commented on gene: GTPBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNS Sarah Graham commented on gene: GNS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNPNAT1 Vicki Harrison commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNAI2 Sarah Graham commented on gene: GNAI2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GEMIN4 Sahar Mansour commented on gene: GEMIN4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GDAP1 Alice Gardham commented on gene: GDAP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GATA5 Natalie Chandler commented on gene: GATA5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GALT Sarah Graham commented on gene: GALT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 G6PD Sarah Graham commented on gene: G6PD: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLVCR1 Natalie Canham commented on gene: FLVCR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLII Sarah Graham commented on gene: FLII: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FGG Natalie Canham commented on gene: FGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXW11 Elizabeth Scotchman commented on gene: FBXW11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXO22 Natalie Bibb commented on gene: FBXO22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAM177A1 Vicki Harrison commented on gene: FAM177A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOSC8 Sarah Graham commented on gene: EXOSC8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOC6B Natalie Bibb commented on gene: EXOC6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ERG Sunayna Best commented on gene: ERG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EFL1 Esther Kinning commented on gene: EFL1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EEFSEC Natalie Chandler commented on gene: EEFSEC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DVL2 Natalie Bibb commented on gene: DVL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DTNA Natalie Bibb commented on gene: DTNA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DST Sarah Graham commented on gene: DST: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSE Natalie Chandler commented on gene: DSE: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSC2 Alice Gardham commented on gene: DSC2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DOHH Esther Kinning commented on gene: DOHH: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DNAJC21 Elizabeth Wall commented on gene: DNAJC21: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHX9 Elizabeth Scotchman commented on gene: DHX9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHRSX Elizabeth Scotchman commented on gene: DHRSX: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DDX17 Elizabeth Scotchman commented on gene: DDX17: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DAND5 Elizabeth Wall commented on gene: DAND5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CYP24A1 Natalie Chandler commented on gene: CYP24A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COQ2 Anna de Burca commented on gene: COQ2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COMP Elizabeth Wall commented on gene: COMP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COL25A1 Sarah Graham commented on gene: COL25A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C1orf127 Elizabeth Scotchman commented on gene: C1orf127: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CHAF1A Elizabeth Wall commented on gene: CHAF1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CFI Esther Kinning commented on gene: CFI: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CELSR1 Sarah Graham commented on gene: CELSR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CDK5 Sarah Graham commented on gene: CDK5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT8 Sarah Graham commented on gene: CCT8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT6A Sarah Graham commented on gene: CCT6A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT3 Natalie Canham commented on gene: CCT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CTGF Elizabeth Scotchman commented on gene: CTGF: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BRD2 Natalie Canham commented on gene: BRD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS8 Natalie Canham commented on gene: BORCS8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BICRA Natalie Chandler commented on gene: BICRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BHLHE22 Sarah Graham commented on gene: BHLHE22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BAIAP2 Anna de Burca commented on gene: BAIAP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ASCC3 Anna de Burca commented on gene: ASCC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARPC5 Stephanie Allen commented on gene: ARPC5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL6IP1 Alice Gardham commented on gene: ARL6IP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL2BP Vicki Harrison commented on gene: ARL2BP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGT Esther Kinning commented on gene: AGT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGRN Alice Gardham commented on gene: AGRN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACTN2 Natalie Chandler commented on gene: ACTN2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACO2 Natalie Chandler commented on gene: ACO2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Tag Q3_25_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the association with Myotonic dystrophy. This STR is Green on multiple GMS panels meaning that it has been approved by the NHS STR working group and can be promoted to Green on this panel at the next GMS panel update.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.26 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green tag was added to STR: DMPK_CTG.
Tag Q3_25_expert_review tag was added to STR: DMPK_CTG.
Tag Q3_25_NHS_review tag was added to STR: DMPK_CTG.
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Classified STR: XYLT1_GCC as Red List (low evidence)
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support an association with Desbuquois dysplasia, however, this STR is currently not green on any panels as it has not been approved by the NHS STR working group and is not NGS validated. Therefore the Red rating will be maintained for now.
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Str: xylt1_gcc has been classified as Red List (Low Evidence).
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Added comment: Comment on list classification: This STR was downgraded from Amber to Red inline with the Red review by the R21 Clinical Oversight Group.
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova commented on STR: CNBP_CCTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova reviewed STR: XYLT1_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22711505, 30554721; Phenotypes: Desbuquois dysplasia 2, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova edited their review of STR: DMPK_CTG: Added comment: Green expert review added on behalf of Sunayna Best (Leeds Teaching Hospitals NHS Trust), as part of a review of this panel by the R21 Clinical Oversight Group:

"Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement. Few published cases include prenatal neuroimaging findings, and ventriculomegaly has been described Shear et al, 2024: report expansion of the prenatal phenotype of DM1 with fetal SVT and frontal bossing with dilated subarachnoid spaces."; Changed rating: GREEN; Changed phenotypes to: Myotonic dystrophy 1; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova changed review comment from: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

Myotonic dytrophy 2 - no fetal presentation.; to: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

"Myotonic dytrophy 2 - no fetal presentation."
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova edited their review of STR: CNBP_CCTG: Added comment: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

Myotonic dytrophy 2 - no fetal presentation.; Changed rating: RED
Fetal anomalies v6.24 CDH11 Natalie Chandler reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271567, 33811546; Phenotypes: Elsahy-Waters syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAAP100 Sarah Graham reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: 40232843, 40244696; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BORCS5 Sarah Graham reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 40385417; Phenotypes: Arthrogryposis multiplex congenita, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAGED2 Sarah Graham reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 5, antenatal, transient; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 ZNRF3 Sarah Graham reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39168120; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 ZNHIT3 Sarah Graham reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39252897, 28335020; Phenotypes: PEHO syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZNF808 Elizabeth Wall reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: 37973953, 37308312; Phenotypes: Pancreatic agenesis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZMYND11 Natalie Bibb reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Intellectual developmental disorder, autosomal dominant 30; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ZEB1 Sarah Graham reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37857482; Phenotypes: Anomalies of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 WDR47 Sarah Graham reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: 39609633; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC50 Sarah Graham reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: 33820833, 40219868, 29016857; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC13D Anna de Burca reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562, 29262924, 21646258; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TPM1 Alice Gardham reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33553264; Phenotypes: Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C14orf80 Sunayna Best reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: 39979680; Phenotypes: severe growth impairment and endocrine complications; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TCP1 Natalie Bibb reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TCF20 Stephanie Allen reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30819258, 40066675; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TAAR1 Sarah Graham reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Cerebellar vermis hypoplasia, cystic kidneys, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SUPT7L Soo-Mi Park reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: 38592547; Phenotypes: Fischer-Zirnsak progeroid syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STXBP2 Alice Gardham reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: 38084697, 33593331; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX5 Sahar Mansour reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 34711829; Phenotypes: Congenital disorder of glycosylation, type IIaa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX11 Vicki Harrison reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SRPK3 Sarah Graham reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39073169; Phenotypes: X-linked intellectual developmental disorder-114; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 SRP54 Stephanie Allen reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: 28972538, 29914977; Phenotypes: Neutropenia, severe congenital, 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 SPTA1 Sarah Graham reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31333484, 34132406, 30198572, 38031483; Phenotypes: Hereditary pyropoikilocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SPOUT1 Sunayna Best reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39962046; Phenotypes: Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SNAPC4 Esther Kinning reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC35A3 Sunayna Best reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777481, 24031089, 28328131, 33416188; Phenotypes: Arthrogryposis, mental retardation, and seizures, OMIM:615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC30A5 Natalie Chandler reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 39790720, 12095919, 33547425; Phenotypes: Cardiomyopathy, hydrops fetalis, or cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC19A1 Soo-Mi Park reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32276275, 11266438, 36745868, 36517554; Phenotypes: Immunodeficiency 114, folate-responsive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC12A9 Sarah Graham reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 38334070; Phenotypes: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SIRT6 Natalie Canham reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555651, 30135584; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SENP7 Natalie Bibb reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 37460201, 39763084; Phenotypes: Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SEL1L Anna de Burca reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 37943610, 37943617; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RPL26 Elizabeth Wall reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104, 39268718; Phenotypes: Diamond-Blackfan anaemia 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5B-1 Natalie Chandler reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5A-1 Natalie Chandler reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNF31 Natalie Chandler reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: 30936877, 26008899; Phenotypes: Immunodeficiency 115 with autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RIPPLY2 Sahar Mansour reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32212228, 33410135, 25343988, 26238661; Phenotypes: Spondylocostal dysostosis 6, OMIM:616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RBFOX2 Anna de Burca reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35137168, 27485310, 27670201, 26785492, 25205790, 37165897; Phenotypes: Congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RAB11B Sahar Mansour reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502218; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PYGL Soo-Mi Park reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Glycogen storage disease VI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 PUS3 Elizabeth Scotchman reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27055666, 30697592, 31444731, 39891418, 30308082; Phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PURA Natalie Canham reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PTEN Sunayna Best reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40261085; Phenotypes: Cowden syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PSKH1 Sarah Graham reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39132680; Phenotypes: hepatorenal syndrome, MONDO:0001382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PROC Elizabeth Wall reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIBP1 Stephanie Allen reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35830857, 37229200; Phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIA3 Stephanie Allen reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38508193, 38181735, 37034625, 38723631; Phenotypes: Paul-Chao neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 POU3F3 Natalie Chandler reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37593446, 31303265; Phenotypes: Snijders Blok-Fisher syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PLVAP Alice Gardham reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: 26207260, 29875123, 29661969, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, OMIM:618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PLAA Stephanie Allen reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 38650658, 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGW Sahar Mansour reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: 40180615; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGQ Esther Kinning reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 24463883, 31148362, 25558065, 32588908; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGP Elizabeth Wall reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 32042915, 28334793, 31139695; Phenotypes: Developmental and epileptic encephalopathy 55; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGM Elizabeth Scotchman reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: 25293775, 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGG Anna de Burca reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGC Alice Gardham reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: 32707268, 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PI4KA Anna de Burca reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PHF5A Vicki Harrison reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PDE12 Alice Gardham reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: 39567835; Phenotypes: Mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PDCD2 Soo-Mi Park reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: hydrops fetalis and early pregnancy loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PAK2 Sarah Graham reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40262506, 37808560, 39876536, 33693784, 38894571, 39994693; Phenotypes: Knobloch syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PAICS Sunayna Best reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128, 38179855, 3965093, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 OSBPL9 Natalie Chandler reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: 40182349; Phenotypes: Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ODC1 Anna de Burca reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Bachmann-Bupp syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NUP214 Stephanie Allen reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 39650934, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NT5E Natalie Chandler reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: 26010187, 34999808, 26178434, 21288095, 32522903, 28825389, 27045881; Phenotypes: arterial calcification, joint calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NR2F1 Soo-Mi Park reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31318166, 32712214, 36221391, 32484994, 40066675; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 NODAL Natalie Chandler reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: 19064609, 9354794; Phenotypes: Heterotaxy, visceral, 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NMNAT1 Natalie Chandler reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NKX2-6 Sunayna Best reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Conotruncal heart malformations, Persistent truncus arteriosus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NFASC Natalie Bibb reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NEXN Sarah Graham reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33949776, 39183344, 35166435, 32058062; Phenotypes: Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 NEPRO Natalie Canham reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: 31250547, 29620724, 26633546, 37294112; Phenotypes: Anauxetic dysplasia 3, OMIM:618853; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NDUFB7 Vicki Harrison reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047, 40025060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGS Elizabeth Wall reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGLU Sarah Graham reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: 40066675; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 MYH9 Natalie Chandler reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: 16969870, 31384440; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 MSL2 Natalie Chandler reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 38815585, 31332282; Phenotypes: Karayol-Borroto-Haghshenas neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MPL Elizabeth Scotchman reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MIA3 Sarah Graham reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32101163, 33778321, 40119123; Phenotypes: Odontochondrodysplasia-2 with hearing loss and diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MET Stephanie Allen reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 30777867, 38429387; Phenotypes: ?Arthrogryposis, distal, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MED11 Soo-Mi Park reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39578696, 36001086; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 MAPK1 Sarah Graham reviewed gene: MAPK1: 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: 40257485, 32721402; Phenotypes: Noonan syndrome 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAP3K3 Alice Gardham reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: 25728774; Phenotypes: Cerebral cavernous malformations 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAN2B2 Sarah Graham reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAL Sahar Mansour reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: Other; Publications: 35217805; Phenotypes: ?Leukodystrophy, hypomyelinating, 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LSS Natalie Chandler reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39359128; Phenotypes: Alopecia-intellectual disability syndrome 4, Cataract 44; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LRRC8C Vicki Harrison reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: 39623139; Phenotypes: TIMES syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LIPN Stephanie Allen reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Ichthyosis, congenital, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LGI3 Soo-Mi Park reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35948005; Phenotypes: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 LDB1 Vicki Harrison reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39680505; Phenotypes: Congenital hydrocephalus, MONDO:0016349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LAGE3 Natalie Chandler reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 31069511, 36682911; Phenotypes: Galloway-Mowat syndrome 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 KMT2E Natalie Bibb reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: O'Donnell-Luria-Rodan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C12orf66 Sahar Mansour reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: 39824192; Phenotypes: Intellectual developmental disorder, autosomal recessive 83; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KDM6B Sunayna Best reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31124270, 37196654; Phenotypes: Stolerman neurodevelopmental syndrome, OMIM:618505; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KDM1A Esther Kinning reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNH2 Sahar Mansour reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36973673, 39698424, 38094730; Phenotypes: Short QT syndrome 1, OMIM:609620, Long QT syndrome 2, OMIM:613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNB1 Soo-Mi Park reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36257979, 31513310, 39237446; Phenotypes: Developmental and epileptic encephalopathy 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 KBTBD2 Esther Kinning reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39313616; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KAT7 Natalie Chandler reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Abnormal male external genitalia morphology, Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 JPH1 Sarah Graham reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39209426; Phenotypes: Congenital myopathy-25; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ITGAV Natalie Canham reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: 39526957; Phenotypes: Syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 IRF4 Natalie Chandler reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: 29537367, 36917008, 29408330, 36662884; Phenotypes: Immunodeficiency 131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 IFT27 Sahar Mansour reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: 25443296, 2970430, 24488770, 30761183, 37239474, 26763875; Phenotypes: Bardet-Biedl syndrome 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 HNRNPU Sarah Graham reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976380, 39965881, 39237446, 35138025; Phenotypes: Developmental and epileptic encephalopathy 54; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 HIRA Sarah Graham reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 38511226, 33417013; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 HECTD1 Sarah Graham reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37165897, 38451291, 39879987; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 HDAC3 Sarah Graham reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39047730; Phenotypes: HDAC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GUK1 Esther Kinning reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: 39230499; Phenotypes: Mitochondrial DNA depletion syndrome 21; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GTPBP1 Natalie Chandler reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNS Sarah Graham reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNPNAT1 Vicki Harrison reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Rhizomelic dysplasia, Ain-Naz type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNAI2 Sarah Graham reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39298586; Phenotypes: Syndromic developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GEMIN4 Sahar Mansour reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GDAP1 Alice Gardham reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Charcot-Marie-Tooth disease, type 4A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GATA5 Natalie Chandler reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40076735; Phenotypes: Congenital heart defects, multiple types, 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 GALT Sarah Graham reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia; Mode of inheritance: 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 FLVCR1 Natalie Canham reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39306721; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FLII Sarah Graham reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: 37561591, 32870709; Phenotypes: Cardiomyopathy, dilated, 2J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FGG Natalie Canham reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Hypofibrinogenemia, congenital, Afibrinogenemia, congenital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FBXW11 Elizabeth Scotchman reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 40188065, 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 FBXO22 Natalie Bibb reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: 40215970; Phenotypes: Tayoun-Maawali syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAM177A1 Vicki Harrison reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38767059, 25558065; Phenotypes: Neurodevelopmental disorder with white matter abnormalities and gait disturbance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOSC8 Sarah Graham reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34210538, 38017281, 24989451; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOC6B Natalie Bibb reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30284759, 26669664, 36150098; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ERG Sunayna Best reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: 36928819; Phenotypes: Lymphatic malformation 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 EFL1 Esther Kinning reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 34115847, 28331068; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EEFSEC Natalie Chandler reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753114; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DVL2 Natalie Bibb reviewed gene: DVL2: Rating: AMBER; 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: 35047859, 30521570, 33599851; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DTNA Natalie Bibb reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: 36799992; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DST Sarah Graham reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 37431644; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSE Natalie Chandler reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 31655143, 32130795, 25703627, 23704329; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSC2 Alice Gardham reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 11; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 DOHH Esther Kinning reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DNAJC21 Elizabeth Wall reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: 27346687, 28062395, 29700810; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DHX9 Elizabeth Scotchman reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750, 37369308; Phenotypes: Intellectual developmental disorder, autosomal dominant 75; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DHRSX Elizabeth Scotchman reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38821050; Phenotypes: Congenital disorder of glycosylation, type 1DD, OMIM:301133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DDX17 Elizabeth Scotchman reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: 39405200; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DAND5 Elizabeth Wall reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: 34215651, 36316122; Phenotypes: Heterotaxy, visceral, 13, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CYP24A1 Natalie Chandler reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 22337913, 28324001, 27105398, 34307984; Phenotypes: hypercalcaemia, nephrocalcinosis, cystic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COQ2 Anna de Burca reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Coenzyme Q10 deficiency, primary, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COMP Elizabeth Wall reviewed gene: COMP: 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: 40188065, 39521787; Phenotypes: Epiphyseal dysplasia, multiple, 1, Pseudoachondroplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 COL25A1 Sarah Graham reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40158061; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 C1orf127 Elizabeth Scotchman reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753129; Phenotypes: Heterotaxy, visceral, 14, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CHAF1A Elizabeth Wall reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 39333427; Phenotypes: Oculo-auriculo-vertebral spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CFI Esther Kinning reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Complement factor I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CELSR1 Sarah Graham reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38272662; Phenotypes: Lymphatic malformation-9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CDK5 Sarah Graham reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25560765, 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CCT8 Sarah Graham reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT8-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT6A Sarah Graham reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT6A-related neurodevelopmental disorder with or without brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT3 Natalie Canham reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CTGF Elizabeth Scotchman reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: 39506047, 39414788, 12736220; Phenotypes: Kyphomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BRD2 Natalie Canham reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Agenesis of corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v6.24 BICRA Natalie Chandler reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 33232675; Phenotypes: Coffin-Siris syndrome 12; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 BHLHE22 Sarah Graham reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502664; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 BAIAP2 Anna de Burca reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38149472; Phenotypes: Lissencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ASCC3 Anna de Burca reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21937992, 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, OMIM:620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARPC5 Stephanie Allen reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: 37382373, 37349293; Phenotypes: Immunodeficiency 113 with autoimmunity and autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL6IP1 Alice Gardham reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39954331; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL2BP Vicki Harrison reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 36507858, 40384762, 38649918, 23849777, 27790702; Phenotypes: Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGT Esther Kinning reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 39641285; Phenotypes: Renal tubular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGRN Alice Gardham reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: 39807604; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ACTN2 Natalie Chandler reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Congenital myopathy 8, Cardiomyopathy, hypertrophic, 23, with or without LVNC, Cardiomyopathy, dilated, 1AA, with or without LVNC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ACO2 Natalie Chandler reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.23 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v6.23 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Fetal anomalies v6.22 XYLT1_GCC Arina Puzriakova Entity copied from Skeletal dysplasia v8.7
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 ZNHIT3 Arina Puzriakova Source Expert Review Amber was added to ZNHIT3.
Added phenotypes PEHO syndrome for gene: ZNHIT3
Publications for gene: ZNHIT3 were updated from 28335020; 31048081 to 39252897; 28335020; 31048081
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 ZMYND11 Arina Puzriakova Mode of inheritance for gene ZMYND11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 30 for gene: ZMYND11
Publications for gene: ZMYND11 were updated from to 39521787
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 UNC13D Arina Puzriakova Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 for gene: UNC13D
Publications for gene: UNC13D were updated from 33082562; 33249554 to 21646258; 33249554; 29262924; 33082562
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 TCF20 Arina Puzriakova Mode of inheritance for gene TCF20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities for gene: TCF20
Publications for gene: TCF20 were updated from to 30819258; 40066675
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 STX5 Arina Puzriakova Added phenotypes Congenital disorder of glycosylation, type IIaa for gene: STX5
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 SRP54 Arina Puzriakova Mode of inheritance for gene SRP54 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neutropenia, severe congenital, 8, autosomal dominant for gene: SRP54
Publications for gene: SRP54 were updated from to 28972538; 29914977
Fetal anomalies v6.21 SPTA1 Arina Puzriakova Source Expert Review Amber was added to SPTA1.
Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary pyropoikilocytosis for gene: SPTA1
Publications for gene: SPTA1 were updated from 31333484; 33082562; 34132406 to 34132406; 30198572; 38031483; 33082562; 31333484
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 SIRT6 Arina Puzriakova Added phenotypes Neurodevelopmental disorder, MONDO:0700092 for gene: SIRT6
Publications for gene: SIRT6 were updated from 29555651; 30135584 to 30135584; 29555651
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 RAB11B Arina Puzriakova Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter for gene: RAB11B
Publications for gene: RAB11B were updated from 29106825 to 39502218; 29106825
Fetal anomalies v6.21 PYGL Arina Puzriakova Added phenotypes Glycogen storage disease VI for gene: PYGL
Publications for gene: PYGL were updated from to 39891418
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 PURA Arina Puzriakova Mode of inheritance for gene PURA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties for gene: PURA
Publications for gene: PURA were updated from to 39521787
Fetal anomalies v6.21 PTEN Arina Puzriakova Source Expert Review Amber was added to PTEN.
Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cowden syndrome 1 for gene: PTEN
Publications for gene: PTEN were updated from to 40261085
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 PLAA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527 for gene: PLAA
Publications for gene: PLAA were updated from 28007986; 28413018; 31322726 to 31322726; 38650658; 28413018; 28007986
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 PIGG Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy for gene: PIGG
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 PI4KA Arina Puzriakova Added phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis for gene: PI4KA
Publications for gene: PI4KA were updated from 34415310 to 34415310; 39891418
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 PDE12 Arina Puzriakova Added phenotypes Mitochondrial disease, MONDO:0044970 for gene: PDE12
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 PAICS Arina Puzriakova Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: PAICS
Publications for gene: PAICS were updated from 31600779 to 31178128; 31600779; 3965093; 38179855; 30758658
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 NUP214 Arina Puzriakova Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: NUP214
Publications for gene: NUP214 were updated from 31178128; 38179855; 30758658; 3965093 to 31178128; 3965093; 38179855; 39650934; 30758658
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 NR2F1 Arina Puzriakova Source Expert Review Amber was added to NR2F1.
Mode of inheritance for gene NR2F1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome for gene: NR2F1
Publications for gene: NR2F1 were updated from to 40066675; 32712214; 31318166; 36221391; 32484994
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 NODAL Arina Puzriakova Mode of inheritance for gene NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Heterotaxy, visceral, 5 for gene: NODAL
Publications for gene: NODAL were updated from to 9354794; 19064609
Fetal anomalies v6.21 NMNAT1 Arina Puzriakova Source Expert Review Amber was added to NMNAT1.
Added phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis for gene: NMNAT1
Publications for gene: NMNAT1 were updated from to 39891418
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 NKX2-6 Arina Puzriakova Added phenotypes Conotruncal heart malformations; Persistent truncus arteriosus for gene: NKX2-6
Publications for gene: NKX2-6 were updated from 32198970; 15649947; 24421281; 25319568; 25380965 to 25319568; 15649947; 32198970; 39891418; 25380965; 24421281
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 NEXN Arina Puzriakova Mode of inheritance for gene NEXN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy for gene: NEXN
Publications for gene: NEXN were updated from 33947203; 32058062; 35166435; 33027564; 33949776 to 39183344; 33947203; 33949776; 33027564; 35166435; 32058062
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 NDUFB7 Arina Puzriakova Added phenotypes Mitochondrial complex I deficiency, nuclear type 39 for gene: NDUFB7
Publications for gene: NDUFB7 were updated from 33502047; 27626371; 40025060 to 27626371; 40025060; 33502047
Fetal anomalies v6.21 NAGS Arina Puzriakova Added phenotypes N-acetylglutamate synthase deficiency for gene: NAGS
Publications for gene: NAGS were updated from to 39891418
Fetal anomalies v6.21 NAGLU Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) for gene: NAGLU
Publications for gene: NAGLU were updated from to 40066675
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 MYH9 Arina Puzriakova Added phenotypes Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Publications for gene: MYH9 were updated from to 16969870; 31384440
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 MAPK1 Arina Puzriakova Mode of pathogenicity for gene MAPK1 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
Added phenotypes Noonan syndrome 13 for gene: MAPK1
Publications for gene: MAPK1 were updated from 32721402 to 32721402; 40257485
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 LIPN Arina Puzriakova Added phenotypes Ichthyosis, congenital, autosomal recessive 8 for gene: LIPN
Publications for gene: LIPN were updated from 21439540 to 21439540; 39891418
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 LAGE3 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 2, X-linked for gene: LAGE3
Publications for gene: LAGE3 were updated from 31069511; 28805828 to 31069511; 28805828; 36682911
Fetal anomalies v6.21 KMT2E Arina Puzriakova Source Expert Review Amber was added to KMT2E.
Mode of inheritance for gene KMT2E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes O'Donnell-Luria-Rodan syndrome for gene: KMT2E
Publications for gene: KMT2E were updated from to 40186013
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 KDM1A Arina Puzriakova Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features for gene: KDM1A
Publications for gene: KDM1A were updated from 27094131; 24838796; 26656649 to 27094131; 24838796; 26656649
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 KCNB1 Arina Puzriakova Source Expert Review Amber was added to KCNB1.
Mode of inheritance for gene KCNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 26 for gene: KCNB1
Publications for gene: KCNB1 were updated from to 36257979; 39237446; 31513310
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 ITGAV Arina Puzriakova Added phenotypes Syndromic disease, MONDO:0002254 for gene: ITGAV
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 IFT27 Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 19 for gene: IFT27
Publications for gene: IFT27 were updated from 25443296; 24488770; 26763875; 30761183 to 25443296; 37239474; 24488770; 30761183; 26763875; 2970430
Fetal anomalies v6.21 HNRNPU Arina Puzriakova Source Expert Review Amber was added to HNRNPU.
Mode of inheritance for gene HNRNPU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 54 for gene: HNRNPU
Publications for gene: HNRNPU were updated from to 39237446; 39965881; 35138025; 39976380
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 GTPBP1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888 for gene: GTPBP1
Fetal anomalies v6.21 GNS Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 for gene: GNS
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 GATA5 Arina Puzriakova Mode of inheritance for gene GATA5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Congenital heart defects, multiple types, 5 for gene: GATA5
Publications for gene: GATA5 were updated from 33082562 to 40076735; 33082562
Fetal anomalies v6.21 GALT Arina Puzriakova Source Expert Review Amber was added to GALT.
Added phenotypes Galactosemia for gene: GALT
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 G6PD Arina Puzriakova Source Expert Review Amber was added to G6PD.
Added phenotypes Glucose-6-phosphate dehydrogenase deficiency for gene: G6PD
Publications for gene: G6PD were updated from 33082562 to 39041728; 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 FLVCR1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 for gene: FLVCR1
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 FBXW11 Arina Puzriakova Added phenotypes Neurodevelopmental, jaw, eye, and digital syndrome for gene: FBXW11
Publications for gene: FBXW11 were updated from 31402090 to 31402090; 40188065
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 EXOSC8 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia type 1C for gene: EXOSC8
Publications for gene: EXOSC8 were updated from 24989451; 34210538 to 38017281; 34210538; 24989451
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 DVL2 Arina Puzriakova Mode of pathogenicity for gene DVL2 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
Added phenotypes Robinow syndrome, MONDO:0019978 for gene: DVL2
Publications for gene: DVL2 were updated from 35047859; 33599851; 30521570 to 33599851; 30521570; 35047859
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 DOHH Arina Puzriakova Added phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 for gene: DOHH
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 COQ2 Arina Puzriakova Source Expert Review Amber was added to COQ2.
Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2
Publications for gene: COQ2 were updated from to 39763161
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 COMP Arina Puzriakova Source Expert Review Amber was added to COMP.
Mode of inheritance for gene COMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene COMP 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
Added phenotypes Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1 for gene: COMP
Publications for gene: COMP were updated from to 39521787; 40188065
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 COL25A1 Arina Puzriakova Source Expert Review Amber was added to COL25A1.
Added phenotypes Arthrogryposis multiplex congenita for gene: COL25A1
Publications for gene: COL25A1 were updated from 26437029; 35077597 to 26437029; 40158061; 35077597
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 C1orf127 Arina Puzriakova Added phenotypes Heterotaxy, visceral, 14, autosomal for gene: C1orf127
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 CELSR1 Arina Puzriakova Added phenotypes Lymphatic malformation-9 for gene: CELSR1
Publications for gene: CELSR1 were updated from 26855770; 31215153; 31403174 to 38272662; 31403174; 26855770; 31215153
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 ASCC3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 for gene: ASCC3
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 AGT Arina Puzriakova Added phenotypes Renal tubular dysgenesis for gene: AGT
Publications for gene: AGT were updated from 16116425; 28976722; 33163725; 34234805 to 34234805; 28976722; 16116425; 39641285; 33163725
Fetal anomalies v6.21 AGRN Arina Puzriakova Source Expert Review Amber was added to AGRN.
Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects for gene: AGRN
Publications for gene: AGRN were updated from 31730230; 39807604 to 31730230; 39807604
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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 v6.21 ACO2 Arina Puzriakova Added phenotypes Infantile cerebellar-retinal degeneration for gene: ACO2
Publications for gene: ACO2 were updated from 34056600 to 34056600; 39891418
Fetal anomalies v6.20 GNS Arina Puzriakova Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, OMIM:252940
Fetal anomalies v6.19 AGRN Arina Puzriakova Publications for gene: AGRN were set to 31730230
Fetal anomalies v6.18 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence, MONDO:0008824
Fetal anomalies v6.17 EVC2 Ida Ertmanska changed review comment from: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.; to: Comment on mode of inheritance: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Fetal anomalies v6.17 EVC2 Ida Ertmanska commented on gene: EVC2: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Fetal anomalies v6.17 EVC2 Ida Ertmanska reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531627, 23220543, 19810119, 16404586; Phenotypes: Weyers acrofacial dysostosis, OMIM:193530, acrofacial dysostosis, Weyers type, MONDO:0008673; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.17 ACO2 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as isolated optic atrophy caused by heterozygous variants in this gene is not relevant to the fetal panel. Extraocular features are rare in dominant cases (11%) and would also not be relevant to this panel (e.g. hearing loss, ataxia, nystagmus, metabolic dysfunction) (PMID: 34056600)
Fetal anomalies v6.17 ACO2 Arina Puzriakova Mode of inheritance for gene: ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.16 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, OMIM:614559
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 v6.15 PDE12 Achchuthan Shanmugasundram Classified gene: PDE12 as Amber List (moderate evidence)
Fetal anomalies v6.15 PDE12 Achchuthan Shanmugasundram Added comment: Comment on list classification: Of the three unrelated families reported with biallelic PDE12 variants, foetal anomalies were reported in two families. There is also functional and in silico evidence available. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.15 PDE12 Achchuthan Shanmugasundram Gene: pde12 has been classified as Amber List (Moderate Evidence).
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 v6.13 CDH1 Arina Puzriakova Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, OMIM:119580
Fetal anomalies v6.12 MYH3 Arina Puzriakova Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2B; DISTAL ARTHROGRYPOSIS TYPE 2A to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD); Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD); Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD); Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR)
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 v6.10 MYH3 Arina Puzriakova Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.9 MYH3 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: MYH3.
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 v6.9 FLVCR1 Eleanor Williams Phenotypes for gene: FLVCR1 were changed from ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA to Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060; neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
Fetal anomalies v6.8 FLVCR1 Eleanor Williams Publications for gene: FLVCR1 were set to
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Classified gene: FLVCR1 as Amber List (moderate evidence)
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a recommendation for green rating following GMS review.
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Gene: flvcr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.6 FLVCR1 Eleanor Williams Tag Q3_25_promote_green tag was added to gene: FLVCR1.
Fetal anomalies v6.6 FLVCR1 Eleanor Williams reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.6 COL3A1 Arina Puzriakova Phenotypes for gene: COL3A1 were changed from HP:0002126; HP:0001883; HP:0006496 to Ehlers-Danlos syndrome, vascular type, OMIM:130050; Polymicrogyria with or without vascular-type EDS, OMIM:618343
Fetal anomalies v6.5 SYNGAP1 Arina Puzriakova Phenotypes for gene: SYNGAP1 were changed from EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 to Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
Fetal anomalies v6.4 C1orf127 Arina Puzriakova commented on gene: C1orf127: Added new-gene-name tag, new approved HGNC gene symbol for C1orf127 is CIROZ
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Tag new-gene-name tag was added to gene: C1orf127.
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Classified gene: C1orf127 as Amber List (moderate evidence)
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Gene: c1orf127 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.3 C1orf127 Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: C1orf127.
Tag Q2_25_ NHS_review tag was added to gene: C1orf127.
Fetal anomalies v6.3 C1orf127 Arina Puzriakova reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: None; Publications: 39753129; Phenotypes: Heterotaxy, visceral, 14, autosomal, OMIM:621080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.3 C1orf127 Arina Puzriakova Phenotypes for gene: C1orf127 were changed from Heterotaxy to Heterotaxy, visceral, 14, autosomal, OMIM:621080
Fetal anomalies v6.2 NEU1 Arina Puzriakova Phenotypes for gene: NEU1 were changed from SIALIDOSIS to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550
Fetal anomalies v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2025-04-30
Fetal anomalies v6.0 Sarah Leigh promoted panel to version 6.0
Fetal anomalies v5.98 GAS8 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: GAS8.
Fetal anomalies v5.98 GAS8 Achchuthan Shanmugasundram commented on gene: GAS8
Fetal anomalies v5.98 CCDC65 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: CCDC65.
Fetal anomalies v5.98 CCDC65 Achchuthan Shanmugasundram commented on gene: CCDC65
Fetal anomalies v5.98 ZSCAN10 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZSCAN10.
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DISP1.
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly 10, OMIM:62114 to Holoprosencephaly 10, OMIM:621143
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: DISP1.
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly 10, OMIM:62114
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 v5.96 GPKOW Sarah Leigh reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v5.96 GPKOW Sarah Leigh Phenotypes for gene: GPKOW were changed from male-lethal microcephaly with intrauterine growth restriction to microcephaly with intrauterine growth restriction
Fetal anomalies v5.95 GPKOW Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: GPKOW.
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 v5.93 SIRT6 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.; to: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the NHS Genomic Medicine Service to decide whether the available evidence is sufficient for promotion to green rating on the next update.
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram Classified gene: SIRT6 as Amber List (moderate evidence)
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram Gene: sirt6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.92 SIRT6 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SIRT6.
Tag Q2_25_expert_review tag was added to gene: SIRT6.
Fetal anomalies v5.92 SIRT6 Achchuthan Shanmugasundram Phenotypes for gene: SIRT6 were changed from PMID: 29555651 to Fetal anomaly, HP:0034057
Fetal anomalies v5.91 SIRT6 Achchuthan Shanmugasundram Publications for gene: SIRT6 were set to
Fetal anomalies v5.90 SIRT6 Achchuthan Shanmugasundram reviewed gene: SIRT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29555651, 30135584; Phenotypes: Fetal anomaly, HP:0034057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.90 LMNB2 Sarah Leigh Tag Q2_25_ MOI tag was added to gene: LMNB2.
Tag Q2_25_ NHS_review tag was added to gene: LMNB2.
Fetal anomalies v5.90 LMNB2 Sarah Leigh changed review comment from: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in the several Lmnb2-deficient mouse models.
Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).; to: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in several Lmnb2-deficient mouse models.
Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).
Fetal anomalies v5.90 LMNB2 Sarah Leigh reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.90 LMNB2 Sarah Leigh Phenotypes for gene: LMNB2 were changed from Microcephaly 27, primary, autosomal dominant, OMIM:619180 to Microcephaly 27, primary, autosomal dominant, OMIM:619180; microcephaly 27, primary, autosomal dominant, MONDO:0030929
Fetal anomalies v5.89 LMNB2 Sarah Leigh Publications for gene: LMNB2 were set to 33033404
Fetal anomalies v5.88 SCN4A Sarah Leigh Tag Q2_25_ MOI tag was added to gene: SCN4A.
Tag Q2_25_expert_review tag was added to gene: SCN4A.
Fetal anomalies v5.88 SCN4A Sarah Leigh reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.88 SCN4A Sarah Leigh Phenotypes for gene: SCN4A were changed from PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; HYPOKALEMIC PERIODIC PARALYSIS to Classic congenital myopathy-22A, OMIM:620351; congenital myopathy 22A, classic,MONDO:0957247:Severe fetal congenital myopathy-22B, OMIM:620369; congenital myopathy 22B, severe fetal, MONDO:0957265
Fetal anomalies v5.87 LMNB2 Sarah Graham reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40011009; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v5.87 AL117258.1 Achchuthan Shanmugasundram changed review comment from: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP.; to: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP. This gene was known by the previous symbol LMLN2.
Fetal anomalies v5.87 VIPAS39 Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
Fetal anomalies v5.86 DET1 Sarah Leigh Added comment: Comment on publications: PMID: 39937864 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
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 v5.84 NDUFB7 Arina Puzriakova Tag Q1_25_ expert_review tag was added to gene: NDUFB7.
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update but this will be flagged for expert review prior to inclusion.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed publications to: 40025060; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Classified gene: NDUFB7 as Amber List (moderate evidence)
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova commented on gene: NDUFB7
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova Tag Q1_25_ promote_green tag was added to gene: NDUFB7.
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v5.82 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to 33502047
Fetal anomalies v5.81 SPR Arina Puzriakova Phenotypes for gene: SPR were changed from DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Fetal anomalies v5.80 EFCAB1 Eleanor Williams changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol forEFCAB1 is CLXN; to: Added new-gene-name tag, new approved HGNC gene symbol for EFCAB1 is CLXN
Fetal anomalies v5.80 EFCAB1 Eleanor Williams commented on gene: EFCAB1
Fetal anomalies v5.80 CCDC115 Eleanor Williams commented on gene: CCDC115
Fetal anomalies v5.80 CCDC115 Eleanor Williams Tag new-gene-name tag was added to gene: CCDC115.
Fetal anomalies v5.80 USP14 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: USP14.
Fetal anomalies v5.80 TSHZ3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TSHZ3.
Fetal anomalies v5.80 PAN2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAN2.
Fetal anomalies v5.80 MYBBP1A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MYBBP1A.
Fetal anomalies v5.80 MAP4K4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MAP4K4.
Fetal anomalies v5.80 KIF5B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF5B.
Fetal anomalies v5.80 KIF24 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF24.
Fetal anomalies v5.80 KDM2B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KDM2B.
Fetal anomalies v5.80 GON4L Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GON4L.
Fetal anomalies v5.80 CBY1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CBY1.
Fetal anomalies v5.80 AMOTL1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: AMOTL1.
Fetal anomalies v5.80 WDR44 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR44.
Fetal anomalies v5.80 RNU4-2 Achchuthan Shanmugasundram Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2.
Tag gene-checked tag was added to gene: RNU4-2.
Fetal anomalies v5.80 PSMF1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PSMF1.
Fetal anomalies v5.80 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Fetal anomalies v5.80 EFCAB1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: EFCAB1.
Fetal anomalies v5.80 EFCAB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: EFCAB1.
Fetal anomalies v5.80 DAW1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
Fetal anomalies v5.80 C16orf62 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C16orf62.
Fetal anomalies v5.80 AL117258.1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: AL117258.1.
Fetal anomalies v5.80 HYAL2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #621063).
Fetal anomalies v5.80 HYAL2 Achchuthan Shanmugasundram Phenotypes for gene: HYAL2 were changed from congenital cardiac malformations; Cleft lip and palate; cor triatriatum to Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
Fetal anomalies v5.79 HYAL2 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: HYAL2.
Fetal anomalies v5.79 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG: The repeated sequence of this STR has been updated from 'CAGG' to 'CCTG' to match the sequence on the coding strand of the gene. This update was made following NHS Genomic Medicine Service approval.
Fetal anomalies v5.79 CNBP_CCTG Achchuthan Shanmugasundram Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.
Fetal anomalies v5.78 ESAM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ESAM.
Tag Q4_23_NHS_review was removed from gene: ESAM.
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed rating: AMBER
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG
Fetal anomalies v5.78 KIF26A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF26A.
Tag Q1_25_ promote_green was removed from gene: KIF26A.
Fetal anomalies v5.78 DAW1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DAW1.
Tag Q1_25_ promote_green was removed from gene: DAW1.
Fetal anomalies v5.78 ZRSR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZRSR2.
Tag Q1_25_ promote_green was removed from gene: ZRSR2.
Fetal anomalies v5.78 ZFX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZFX.
Tag Q1_25_ promote_green was removed from gene: ZFX.
Fetal anomalies v5.78 WDR44 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WDR44.
Tag Q1_25_ promote_green was removed from gene: WDR44.
Fetal anomalies v5.78 WBP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WBP4.
Tag Q1_25_ promote_green was removed from gene: WBP4.
Fetal anomalies v5.78 WASHC5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WASHC5.
Tag Q1_25_ promote_green was removed from gene: WASHC5.
Fetal anomalies v5.78 USP14 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: USP14.
Fetal anomalies v5.78 UFSP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: UFSP2.
Tag Q1_25_ promote_green was removed from gene: UFSP2.
Fetal anomalies v5.78 U2AF2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: U2AF2.
Tag Q1_25_ promote_green was removed from gene: U2AF2.
Fetal anomalies v5.78 TSHZ3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TSHZ3.
Tag Q1_25_ promote_green was removed from gene: TSHZ3.
Fetal anomalies v5.78 TRIT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TRIT1.
Tag Q1_25_ promote_green was removed from gene: TRIT1.
Fetal anomalies v5.78 TONSL Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TONSL.
Tag Q1_25_ promote_green was removed from gene: TONSL.
Fetal anomalies v5.78 TOGARAM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TOGARAM1.
Tag Q1_25_ promote_green was removed from gene: TOGARAM1.
Fetal anomalies v5.78 THSD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: THSD1.
Tag Q1_25_ promote_green was removed from gene: THSD1.
Fetal anomalies v5.78 TBR1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TBR1.
Tag Q1_25_ promote_green was removed from gene: TBR1.
Fetal anomalies v5.78 TAF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TAF8.
Tag Q1_25_ promote_green was removed from gene: TAF8.
Fetal anomalies v5.78 SNF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SNF8.
Tag Q1_23_promote_green was removed from gene: SNF8.
Fetal anomalies v5.78 SNAP25 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SNAP25.
Tag Q1_25_ promote_green was removed from gene: SNAP25.
Fetal anomalies v5.78 SMPD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber was removed from gene: SMPD1.
Tag Q1_25_ NHS_review was removed from gene: SMPD1.
Fetal anomalies v5.78 SLC4A10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC4A10.
Tag Q1_25_ promote_green was removed from gene: SLC4A10.
Fetal anomalies v5.78 SLC34A1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC34A1.
Tag Q1_25_ promote_green was removed from gene: SLC34A1.
Fetal anomalies v5.78 SLC25A4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC25A4.
Tag Q1_25_ promote_green was removed from gene: SLC25A4.
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 SCYL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SCYL2.
Tag Q1_25_ promote_green was removed from gene: SCYL2.
Fetal anomalies v5.78 SASS6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SASS6.
Tag Q1_25_ promote_green was removed from gene: SASS6.
Fetal anomalies v5.78 RSPRY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RSPRY1.
Tag Q1_25_ promote_green was removed from gene: RSPRY1.
Fetal anomalies v5.78 RSPO2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RSPO2.
Tag Q1_25_ promote_green was removed from gene: RSPO2.
Fetal anomalies v5.78 RRAS Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RRAS.
Tag Q1_25_ promote_green was removed from gene: RRAS.
Fetal anomalies v5.78 RRAGC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RRAGC.
Tag Q1_25_ promote_green was removed from gene: RRAGC.
Fetal anomalies v5.78 RPL13 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RPL13.
Tag Q1_25_ promote_green was removed from gene: RPL13.
Fetal anomalies v5.78 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ROBO1.
Tag Q1_24_MOI was removed from gene: ROBO1.
Fetal anomalies v5.78 RNU4-2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RNU4-2.
Tag Q1_25_ promote_green was removed from gene: RNU4-2.
Fetal anomalies v5.78 RFWD3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RFWD3.
Tag Q1_25_ promote_green was removed from gene: RFWD3.
Fetal anomalies v5.78 RAP1B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RAP1B.
Tag Q1_25_ promote_green was removed from gene: RAP1B.
Fetal anomalies v5.78 RAB34 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RAB34.
Tag Q1_25_ promote_green was removed from gene: RAB34.
Fetal anomalies v5.78 PUM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PUM1.
Tag Q1_25_ promote_green was removed from gene: PUM1.
Fetal anomalies v5.78 PSMF1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PSMF1.
Tag Q1_25_ promote_green was removed from gene: PSMF1.
Fetal anomalies v5.78 PLS3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PLS3.
Tag Q1_25_ promote_green was removed from gene: PLS3.
Fetal anomalies v5.78 PLD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber was removed from gene: PLD1.
Tag Q1_25_ NHS_review was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Fetal anomalies v5.78 PKDCC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PKDCC.
Tag Q1_25_ promote_green was removed from gene: PKDCC.
Fetal anomalies v5.78 PIP5K1C Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PIP5K1C.
Tag Q1_25_ promote_green was removed from gene: PIP5K1C.
Fetal anomalies v5.78 PIGS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PIGS.
Tag Q1_25_ promote_green was removed from gene: PIGS.
Fetal anomalies v5.78 PI4K2A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PI4K2A.
Tag Q1_25_ promote_green was removed from gene: PI4K2A.
Fetal anomalies v5.78 PAN2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PAN2.
Tag Q1_25_ promote_green was removed from gene: PAN2.
Fetal anomalies v5.78 NUDT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NUDT2.
Tag Q1_25_ promote_green was removed from gene: NUDT2.
Fetal anomalies v5.78 NSUN6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NSUN6.
Tag Q1_25_ promote_green was removed from gene: NSUN6.
Fetal anomalies v5.78 NLRP3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NLRP3.
Tag Q1_25_ promote_green was removed from gene: NLRP3.
Fetal anomalies v5.78 MYBBP1A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MYBBP1A.
Tag Q3_24_NHS_review was removed from gene: MYBBP1A.
Fetal anomalies v5.78 MSTO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MSTO1.
Tag Q1_24_MOI was removed from gene: MSTO1.
Fetal anomalies v5.78 MDFIC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MDFIC.
Tag Q2_24_promote_green was removed from gene: MDFIC.
Fetal anomalies v5.78 MAX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MAX.
Tag Q1_25_ promote_green was removed from gene: MAX.
Fetal anomalies v5.78 MAP4K4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MAP4K4.
Tag Q1_25_ promote_green was removed from gene: MAP4K4.
Fetal anomalies v5.78 LOX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LOX.
Tag Q1_25_ promote_green was removed from gene: LOX.
Fetal anomalies v5.78 LNPK Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LNPK.
Tag Q1_25_ promote_green was removed from gene: LNPK.
Fetal anomalies v5.78 LIPT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LIPT2.
Tag Q1_25_ promote_green was removed from gene: LIPT2.
Fetal anomalies v5.78 LAMB2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LAMB2.
Tag Q1_25_ promote_green was removed from gene: LAMB2.
Fetal anomalies v5.78 LAMA5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LAMA5.
Tag Q1_25_ promote_green was removed from gene: LAMA5.
Fetal anomalies v5.78 KMT2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KMT2B.
Tag Q1_25_ promote_green was removed from gene: KMT2B.
Fetal anomalies v5.78 KIF5B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF5B.
Tag Q1_25_ promote_green was removed from gene: KIF5B.
Fetal anomalies v5.78 KIF24 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF24.
Tag Q1_25_ promote_green was removed from gene: KIF24.
Fetal anomalies v5.78 KDM2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KDM2B.
Tag Q1_25_ promote_green was removed from gene: KDM2B.
Fetal anomalies v5.78 KDELR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KDELR2.
Tag Q1_25_ promote_green was removed from gene: KDELR2.
Fetal anomalies v5.78 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: KCNK9.
Tag Q2_24_NHS_review was removed from gene: KCNK9.
Fetal anomalies v5.78 KCNK3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KCNK3.
Tag Q1_25_ promote_green was removed from gene: KCNK3.
Fetal anomalies v5.78 INTS11 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: INTS11.
Tag Q1_25_ promote_green was removed from gene: INTS11.
Fetal anomalies v5.78 HECTD4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: HECTD4.
Tag Q1_25_ promote_green was removed from gene: HECTD4.
Fetal anomalies v5.78 GON4L Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: GON4L.
Tag Q1_25_ promote_green was removed from gene: GON4L.
Fetal anomalies v5.78 GNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GNB2.
Tag Q2_24_NHS_review was removed from gene: GNB2.
Fetal anomalies v5.78 FUZ Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FUZ.
Tag Q1_25_ promote_green was removed from gene: FUZ.
Fetal anomalies v5.78 FTO Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FTO.
Tag Q1_25_ promote_green was removed from gene: FTO.
Fetal anomalies v5.78 FOXP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FOXP4.
Tag Q1_25_ promote_green was removed from gene: FOXP4.
Fetal anomalies v5.78 FOSL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FOSL2.
Tag Q1_25_ promote_green was removed from gene: FOSL2.
Fetal anomalies v5.78 FN1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FN1.
Tag Q1_25_ promote_green was removed from gene: FN1.
Fetal anomalies v5.78 FILIP1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FILIP1.
Tag Q1_25_ promote_green was removed from gene: FILIP1.
Fetal anomalies v5.78 FAS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FAS.
Tag Q1_25_ promote_green was removed from gene: FAS.
Fetal anomalies v5.78 ERI1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ERI1.
Tag Q1_25_ promote_green was removed from gene: ERI1.
Fetal anomalies v5.78 ENG Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ENG.
Tag Q1_25_ promote_green was removed from gene: ENG.
Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: EMG1.
Tag Q1_23_promote_green was removed from gene: EMG1.
Fetal anomalies v5.78 EFCAB1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: EFCAB1.
Tag Q1_25_ promote_green was removed from gene: EFCAB1.
Fetal anomalies v5.78 DRG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DRG1.
Tag Q1_25_ promote_green was removed from gene: DRG1.
Fetal anomalies v5.78 DPYSL5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DPYSL5.
Tag Q1_25_ promote_green was removed from gene: DPYSL5.
Fetal anomalies v5.78 DLG5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DLG5.
Tag Q1_25_ promote_green was removed from gene: DLG5.
Fetal anomalies v5.78 DHX30 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DHX30.
Tag Q1_25_ promote_green was removed from gene: DHX30.
Fetal anomalies v5.78 DDRGK1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DDRGK1.
Tag Q1_25_ promote_green was removed from gene: DDRGK1.
Fetal anomalies v5.78 CSGALNACT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CSGALNACT1.
Tag Q1_25_ promote_green was removed from gene: CSGALNACT1.
Fetal anomalies v5.78 CNOT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CNOT2.
Tag Q1_25_ promote_green was removed from gene: CNOT2.
Fetal anomalies v5.78 CEP295 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CEP295.
Tag Q1_25_ promote_green was removed from gene: CEP295.
Fetal anomalies v5.78 CDK10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CDK10.
Tag Q1_25_ promote_green was removed from gene: CDK10.
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CDH2.
Tag Q1_25_ promote_green was removed from gene: CDH2.
Fetal anomalies v5.78 CBY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CBY1.
Tag Q1_25_ promote_green was removed from gene: CBY1.
Fetal anomalies v5.78 CASP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CASP2.
Tag Q1_25_ promote_green was removed from gene: CASP2.
Fetal anomalies v5.78 CACNA1S Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CACNA1S.
Tag Q1_25_ promote_green was removed from gene: CACNA1S.
Fetal anomalies v5.78 C16orf62 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: C16orf62.
Tag Q1_25_ promote_green was removed from gene: C16orf62.
Fetal anomalies v5.78 ATG7 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ATG7.
Tag Q1_25_ promote_green was removed from gene: ATG7.
Fetal anomalies v5.78 ASXL3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ASXL3.
Tag Q1_25_ promote_green was removed from gene: ASXL3.
Fetal anomalies v5.78 AMOTL1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: AMOTL1.
Tag Q1_25_ promote_green was removed from gene: AMOTL1.
Fetal anomalies v5.78 AL117258.1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: AL117258.1.
Tag Q1_25_ promote_green was removed from gene: AL117258.1.
Fetal anomalies v5.78 ADD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ADD1.
Tag Q1_25_ promote_green was removed from gene: ADD1.
Fetal anomalies v5.78 ADAMTS15 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ADAMTS15.
Tag Q1_25_ promote_green was removed from gene: ADAMTS15.
Fetal anomalies v5.78 ACBD6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ACBD6.
Tag Q1_25_ promote_green was removed from gene: ACBD6.
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 WASHC5 Achchuthan Shanmugasundram edited their review of gene: WASHC5: 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: 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 TRIT1 Achchuthan Shanmugasundram edited their review of gene: TRIT1: 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: BIALLELIC, autosomal or pseudoautosomal
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 TOGARAM1 Achchuthan Shanmugasundram edited their review of gene: TOGARAM1: 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: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 THSD1 Achchuthan Shanmugasundram edited their review of gene: THSD1: 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: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TBR1 Achchuthan Shanmugasundram edited their review of gene: TBR1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 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 SNAP25 Achchuthan Shanmugasundram edited their review of gene: SNAP25: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 SMPD1 Achchuthan Shanmugasundram edited their review of gene: SMPD1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
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 SLC25A4 Achchuthan Shanmugasundram edited their review of gene: SLC25A4: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 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 SASS6 Achchuthan Shanmugasundram edited their review of gene: SASS6: 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: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RSPRY1 Achchuthan Shanmugasundram edited their review of gene: RSPRY1: 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: 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 RRAS Achchuthan Shanmugasundram edited their review of gene: RRAS: 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 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 ROBO1 Achchuthan Shanmugasundram edited their review of gene: ROBO1: Added comment: The mode of inheritance of this gene has been updated 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 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 RFWD3 Achchuthan Shanmugasundram edited their review of gene: RFWD3: 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: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RAP1B Achchuthan Shanmugasundram edited their review of gene: RAP1B: 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, 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 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
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 PIGS Achchuthan Shanmugasundram edited their review of gene: PIGS: 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: 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 NLRP3 Achchuthan Shanmugasundram edited their review of gene: NLRP3: 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, NOT imprinted
Fetal anomalies v5.78 MYBBP1A Achchuthan Shanmugasundram reviewed gene: MYBBP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 MSTO1 Achchuthan Shanmugasundram edited their review of gene: MSTO1: Added comment: The mode of inheritance of this gene has been updated 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 MDFIC Achchuthan Shanmugasundram commented on gene: MDFIC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
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 LOX Achchuthan Shanmugasundram edited their review of gene: LOX: 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: BIALLELIC, autosomal or pseudoautosomal
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 LIPT2 Achchuthan Shanmugasundram edited their review of gene: LIPT2: 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: 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 KMT2B Achchuthan Shanmugasundram edited their review of gene: KMT2B: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 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 KCNC3 Achchuthan Shanmugasundram edited their review of gene: KCNC3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 GNB2 Achchuthan Shanmugasundram commented on gene: GNB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 FUZ Achchuthan Shanmugasundram edited their review of gene: FUZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 FTO Achchuthan Shanmugasundram edited their review of gene: FTO: 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: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: 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 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 FN1 Achchuthan Shanmugasundram edited their review of gene: FN1: 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 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 ESAM Achchuthan Shanmugasundram commented on gene: ESAM: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
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 ENG Achchuthan Shanmugasundram edited their review of gene: ENG: 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, NOT imprinted
Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram edited their review of gene: EMG1: 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: 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 DHX30 Achchuthan Shanmugasundram edited their review of gene: DHX30: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 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 CACNA1S Achchuthan Shanmugasundram edited their review of gene: CACNA1S: 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: 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 ASXL3 Achchuthan Shanmugasundram edited their review of gene: ASXL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 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 ZRSR2 Achchuthan Shanmugasundram Source Expert Review Green was added to ZRSR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ZFX Achchuthan Shanmugasundram Source Expert Review Green was added to ZFX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WDR44 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR44.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WBP4 Achchuthan Shanmugasundram Source Expert Review Green was added to WBP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WASHC5 Achchuthan Shanmugasundram Source Expert Review Green was added to WASHC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 USP14 Achchuthan Shanmugasundram Source NHS GMS was added to USP14.
Source Expert Review Green was added to USP14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 UFSP2 Achchuthan Shanmugasundram Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 U2AF2 Achchuthan Shanmugasundram Source Expert Review Green was added to U2AF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TSHZ3 Achchuthan Shanmugasundram Source Expert Review Green was added to TSHZ3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TRIT1 Achchuthan Shanmugasundram Source Expert Review Green was added to TRIT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TONSL Achchuthan Shanmugasundram Source Expert Review Green was added to TONSL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TOGARAM1 Achchuthan Shanmugasundram Source Expert Review Green was added to TOGARAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 THSD1 Achchuthan Shanmugasundram Source Expert Review Green was added to THSD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TBR1 Achchuthan Shanmugasundram Source Expert Review Green was added to TBR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TAF8 Achchuthan Shanmugasundram Source Expert Review Green was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SNF8 Achchuthan Shanmugasundram Source Expert Review Green was added to SNF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SNAP25 Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SMPD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to SMPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v5.77 SLC4A10 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC4A10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SLC34A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC34A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SLC25A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v5.77 SCYL2 Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SASS6 Achchuthan Shanmugasundram Source Expert Review Green was added to SASS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RSPRY1 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RSPO2 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RRAS Achchuthan Shanmugasundram Source Expert Review Green was added to RRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RRAGC Achchuthan Shanmugasundram Source Expert Review Green was added to RRAGC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RPL13 Achchuthan Shanmugasundram Source Expert Review Green was added to RPL13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ROBO1 Achchuthan Shanmugasundram Mode of inheritance for gene ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 RNU4-2 Achchuthan Shanmugasundram Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RFWD3 Achchuthan Shanmugasundram Source Expert Review Green was added to RFWD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RAP1B Achchuthan Shanmugasundram Source Expert Review Green was added to RAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RAB34 Achchuthan Shanmugasundram Source Expert Review Green was added to RAB34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PUM1 Achchuthan Shanmugasundram Source Expert Review Green was added to PUM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PSMF1 Achchuthan Shanmugasundram Source Expert Review Green was added to PSMF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PLS3 Achchuthan Shanmugasundram Source Expert Review Green was added to PLS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v5.77 PKDCC Achchuthan Shanmugasundram Source Expert Review Green was added to PKDCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PIP5K1C Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PIGS Achchuthan Shanmugasundram Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PI4K2A Achchuthan Shanmugasundram Source Expert Review Green was added to PI4K2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PAN2 Achchuthan Shanmugasundram Source Expert Review Green was added to PAN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NUDT2 Achchuthan Shanmugasundram Source Expert Review Green was added to NUDT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NSUN6 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NLRP3 Achchuthan Shanmugasundram Source Expert Review Green was added to NLRP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MYBBP1A Achchuthan Shanmugasundram Source NHS GMS was added to MYBBP1A.
Source Expert Review Green was added to MYBBP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MSTO1 Achchuthan Shanmugasundram Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 MDFIC Achchuthan Shanmugasundram Source Expert Review Green was added to MDFIC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MAX Achchuthan Shanmugasundram Source Expert Review Green was added to MAX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MAP4K4 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP4K4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LOX Achchuthan Shanmugasundram Source Expert Review Green was added to LOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LNPK Achchuthan Shanmugasundram Source Expert Review Green was added to LNPK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LIPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LAMB2 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LAMA5 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KMT2B Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF5B Achchuthan Shanmugasundram Source Expert Review Green was added to KIF5B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF26A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF26A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF24 Achchuthan Shanmugasundram Source Expert Review Green was added to KIF24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KDM2B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KDELR2 Achchuthan Shanmugasundram Source Expert Review Green was added to KDELR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNK9 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNK3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNC3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 INTS11 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 HECTD4 Achchuthan Shanmugasundram Source Expert Review Green was added to HECTD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 GON4L Achchuthan Shanmugasundram Source Expert Review Green was added to GON4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 GNB2 Achchuthan Shanmugasundram Source Expert Review Green was added to GNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FUZ Achchuthan Shanmugasundram Source Expert Review Green was added to FUZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FTO Achchuthan Shanmugasundram Source Expert Review Green was added to FTO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FOXP4 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FOSL2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FN1 Achchuthan Shanmugasundram Source Expert Review Green was added to FN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FILIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to FILIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FAS Achchuthan Shanmugasundram Source Expert Review Green was added to FAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ESAM Achchuthan Shanmugasundram Source Expert Review Green was added to ESAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ERI1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ENG Achchuthan Shanmugasundram Source Expert Review Green was added to ENG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 EFCAB1 Achchuthan Shanmugasundram Source Expert Review Green was added to EFCAB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DRG1 Achchuthan Shanmugasundram Source Expert Review Green was added to DRG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DPYSL5 Achchuthan Shanmugasundram Source Expert Review Green was added to DPYSL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DLG5 Achchuthan Shanmugasundram Source Expert Review Green was added to DLG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DHX30 Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DDRGK1 Achchuthan Shanmugasundram Source Expert Review Green was added to DDRGK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DAW1 Achchuthan Shanmugasundram Source Expert Review Green was added to DAW1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CSGALNACT1 Achchuthan Shanmugasundram Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CNOT2 Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CEP295 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP295.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CDK10 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CBY1 Achchuthan Shanmugasundram Source Expert Review Green was added to CBY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CASP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CASP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CACNA1S Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1S.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 C16orf62 Achchuthan Shanmugasundram Source Expert Review Green was added to C16orf62.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ATG7 Achchuthan Shanmugasundram Source Expert Review Green was added to ATG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ASXL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 AMOTL1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 AL117258.1 Achchuthan Shanmugasundram Source Expert Review Green was added to AL117258.1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ADD1 Achchuthan Shanmugasundram Source Expert Review Green was added to ADD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ADAMTS15 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ACBD6 Achchuthan Shanmugasundram Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.76 DRC1 Achchuthan Shanmugasundram commented on gene: DRC1
Fetal anomalies v5.76 DPYSL5 Achchuthan Shanmugasundram commented on gene: DPYSL5
Fetal anomalies v5.76 DOHH Achchuthan Shanmugasundram commented on gene: DOHH
Fetal anomalies v5.76 DLX3 Achchuthan Shanmugasundram commented on gene: DLX3
Fetal anomalies v5.76 DLG5 Achchuthan Shanmugasundram commented on gene: DLG5
Fetal anomalies v5.76 DLG4 Achchuthan Shanmugasundram commented on gene: DLG4
Fetal anomalies v5.76 DHX30 Achchuthan Shanmugasundram commented on gene: DHX30
Fetal anomalies v5.76 DDRGK1 Achchuthan Shanmugasundram commented on gene: DDRGK1
Fetal anomalies v5.76 DCDC2 Achchuthan Shanmugasundram commented on gene: DCDC2
Fetal anomalies v5.76 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1
Fetal anomalies v5.76 CYP2R1 Achchuthan Shanmugasundram commented on gene: CYP2R1
Fetal anomalies v5.76 CYP27B1 Achchuthan Shanmugasundram commented on gene: CYP27B1
Fetal anomalies v5.76 CYB5R3 Achchuthan Shanmugasundram commented on gene: CYB5R3
Fetal anomalies v5.75 DRC1 Elizabeth Wall reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39152285, 34851034, 39462806; Phenotypes: Ciliary dyskinesia, primary, 21, MIM#615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DPYSL5 Elizabeth Wall reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33894126; Phenotypes: Ritscher-Schinzel syndrome 4, MIM#619435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DOHH Elizabeth Wall reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM#620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DLX3 Elizabeth Wall reviewed gene: DLX3: Rating: RED; Mode of pathogenicity: ; Publications: 26762616, 26104267; Phenotypes: Trichodontoosseous syndrome, MIM#190320, Amelogenesis imperfecta, type IV, MIM#104510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DLG5 Elizabeth Wall reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32631816, 30791088; Phenotypes: Yuksel-Vogel-Bauser syndrome, MIM#620703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DLG4 Elizabeth Wall reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: 37347881; Phenotypes: Intellectual developmental disorder, autosomal dominant 62, MIM#618793; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DHX30 Elizabeth Wall reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 38366977, 37094863, 34020708, 34180050, 34145223, 36643085; Phenotypes: Neurodevelopmental disorder with variable motor and language impairment, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DDRGK1 Elizabeth Wall reviewed gene: DDRGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35377455, 28263186, 35670300, 36243336; Phenotypes: Spondyloepimetaphyseal dysplasia, Shohat type, MIM#602557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DCDC2 Elizabeth Wall reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35570614, 34155636, 36938759, 37296768, 36816379; Phenotypes: Sclerosing cholangitis, neonatal, MIM#617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DAW1 Elizabeth Wall reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124, 28991257; Phenotypes: Ciliary dyskinesia, primary, 52, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYP2R1 Elizabeth Wall reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: 28548312, 15128933; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency, MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYP27B1 Elizabeth Wall reviewed gene: CYP27B1: Rating: RED; Mode of pathogenicity: ; Publications: 34492747, 9486994, 27473561, 9415400, 33823104, 12050193; Phenotypes: Vitamin D-dependent rickets, type I, MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYB5R3 Elizabeth Wall reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34467556; Phenotypes: Methemoglobinemia, type II, MIM#250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.74 DRC1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DPYSL5 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DOHH Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLX3 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLG5 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLG4 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DHX30 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DDRGK1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DCDC2 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DAW1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYP2R1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYP27B1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYB5R3 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ROBO1.
Fetal anomalies v5.74 MSTO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MSTO1.
Fetal anomalies v5.74 SMPD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber tag was added to gene: SMPD1.
Tag Q1_25_ NHS_review tag was added to gene: SMPD1.
Fetal anomalies v5.74 PLD1 Achchuthan Shanmugasundram Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q1_25_ demote_amber tag was added to gene: PLD1.
Tag Q1_25_ NHS_review tag was added to gene: PLD1.
Fetal anomalies v5.74 ZRSR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZRSR2.
Tag Q1_25_ promote_green tag was added to gene: ZRSR2.
Fetal anomalies v5.74 WDR44 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WDR44.
Tag Q1_25_ promote_green tag was added to gene: WDR44.
Fetal anomalies v5.74 ZFX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZFX.
Tag Q1_25_ promote_green tag was added to gene: ZFX.
Fetal anomalies v5.74 WBP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WBP4.
Tag Q1_25_ promote_green tag was added to gene: WBP4.