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Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger commented on gene: HOXA1: Added watchlist tag.
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Tag watchlist tag was added to gene: HOXA1.
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Classified gene: HOXA1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. HOXA1 is a Confirmed DD-G2P gene for Athabaskan brainstem dysgenesis syndrome and Bosley-Salih-Alorainy syndrome; seizures are a variable feature of these HOXA1 spectrum disorders but aren't present in all affected individuals. Reported individuals so far are all from Saudi families or the Athabascan Indian population. Of the 5 BSAS or ABDS individuals summarised with seizures in PMID:18412118, it's unclear how many are related and therefore how many individual cases there are. Therefore rated Amber awaiting further clear cases.
Early onset or syndromic epilepsy v0.1556 HOXA1 Rebecca Foulger Gene: hoxa1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1555 NDUFA2 Ellen McDonagh Added comment: Comment on publications: PMID: 18513682 - the case reported developed seizures after a varicella infection, with severe acidosis.
Early onset or syndromic epilepsy v0.1555 NDUFA2 Ellen McDonagh Publications for gene: NDUFA2 were set to
Early onset or syndromic epilepsy v0.1554 HOXA1 Rebecca Foulger commented on gene: HOXA1: PMID:18412118 (Bosley et al 2008) report 9 new individuals from 6 families (3 consanguineous Saudi families and 3 Native American families) who have homozygous variants of HOXA1 with either the Bosley-Salih-Alorainy Syndrome (BSAS) or the Athabascan Brainstem Dysgenesis Syndrome (ABDS). Seizures were seen in 2 patients (Saudi patients B1 and C1). Patient B1 had 2 unaffected siblings and six unaffected half siblings. Patients C1-C4 came from a consanguineous extended family, and seizures weren't noted in C2-C4. The Authors provide a summary, reporting seizures in 1/16 BSAS patients and 4/13 ABDS patients (it's unclear which of these patients are related).
Early onset or syndromic epilepsy v0.1554 HOXA1 Rebecca Foulger Deleted their comment
Early onset or syndromic epilepsy v0.1554 HOXA1 Rebecca Foulger Publications for gene: HOXA1 were set to 18412118
Early onset or syndromic epilepsy v0.1553 HOXA1 Rebecca Foulger commented on gene: HOXA1: Holve et al., 2003 (PMID:12833395): Seizures reported in 4/10 ABDS patients, all of which are Athabascan Indian children. Genetic analysis was not performed.
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Marked gene: SHH as ready
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Added comment: Comment when marking as ready: Associated with somatic variants and so not relevant to this panel.
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Gene: shh has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Classified gene: SHH as Red List (low evidence)
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Gene: shh has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1552 NDUFS8 Ellen McDonagh Marked gene: NDUFS8 as ready
Early onset or syndromic epilepsy v0.1552 NDUFS8 Ellen McDonagh Gene: ndufs8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1552 NDUFS8 Ellen McDonagh Classified gene: NDUFS8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1552 NDUFS8 Ellen McDonagh Gene: ndufs8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1551 NDUFS8 Ellen McDonagh Added comment: Comment on mode of inheritance: Promoted to Green due to evidence of a seizures/epilepsy phenotype in two unrelated cases with variants in this gene.
Early onset or syndromic epilepsy v0.1551 NDUFS8 Ellen McDonagh Mode of inheritance for gene: NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1550 NDUFS8 Ellen McDonagh Deleted their comment
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Marked gene: SMC1A as ready
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported four unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Gene: smc1a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1550 NDUFS8 Ellen McDonagh Deleted their comment
Early onset or syndromic epilepsy v0.1550 NDUFS8 Ellen McDonagh commented on gene: NDUFS8: Comment on publications: PMID: 22499348 - of three patients (2 related) reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome...this patient also had a homozygous variant in NDUFS7, however the variant in NDUFS8 was attributed to the disease as their affected sister also carried this homozygous variant. She had a clinical diagnosis of Leigh syndrome, decribed with Muscular hypotonia, lactic acidosis blood and CSF, MRI lesions basal ganglia and brainstem, hypertrophic cardiomyopathy (seizures or epilepsy were not mentioned). In the other unrelated case, a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy was given, with Muscular hypotonia, respiratory insufficiency as other features.
Early onset or syndromic epilepsy v0.1550 SMC1A Sarah Leigh Publications for gene: SMC1A were set to 16604071
Early onset or syndromic epilepsy v0.1549 NDUFS8 Ellen McDonagh Added comment: Comment on publications: PMID: 22499348 - of three patients reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome. The other two cases had a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy, and Leigh syndrome, respectively.
Early onset or syndromic epilepsy v0.1549 NDUFS8 Ellen McDonagh Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812
Early onset or syndromic epilepsy v0.1548 NDUFS8 Ellen McDonagh Added comment: Comment on publications: PMID: 22499348 - of three patients reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome. The other two cases had a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy, and Leigh syndrome, respectively.
Early onset or syndromic epilepsy v0.1548 NDUFS8 Ellen McDonagh Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812
Early onset or syndromic epilepsy v0.1547 SMC1A Sarah Leigh Publications for gene: SMC1A were set to
Early onset or syndromic epilepsy v0.1546 SMC1A Sarah Leigh Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2 300590
Early onset or syndromic epilepsy v0.1545 SMC1A Sarah Leigh Mode of inheritance for gene: SMC1A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.1544 NDUFS8 Ellen McDonagh Added comment: Comment on publications: PMID: 9837812 - erratic seizures reported in a case who was compound heterozygous for variants in NDUFS8 "At admission, the main symptoms were mild cyanosis, severe hypercarbia, a cardiac murmur, drowsiness with absent optical and acoustical blink, eye flutter, intense hypotonia, brisk tendon reflexes with ankle clonus, and erratic seizures".
Early onset or syndromic epilepsy v0.1544 NDUFS8 Ellen McDonagh Publications for gene: NDUFS8 were set to 15159508; 22499348; 9837812
Early onset or syndromic epilepsy v0.1543 SLC45A1 Sarah Leigh Marked gene: SLC45A1 as ready
Early onset or syndromic epilepsy v0.1543 SLC45A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three homozygous variants reported in three unrelated cases, however, seizures were only a phenotypic feature in two of the unrelated cases.
Early onset or syndromic epilepsy v0.1543 SLC45A1 Sarah Leigh Gene: slc45a1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1543 HOXA1 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by the literature (e.g. PMID:18412118)
Early onset or syndromic epilepsy v0.1543 HOXA1 Rebecca Foulger Mode of inheritance for gene: HOXA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1542 HOXA1 Rebecca Foulger Publications for gene: HOXA1 were set to
Early onset or syndromic epilepsy v0.1541 HOXA1 Rebecca Foulger commented on gene: HOXA1
Early onset or syndromic epilepsy v0.1541 SLC45A1 Sarah Leigh Tag watchlist tag was added to gene: SLC45A1.
Early onset or syndromic epilepsy v0.1541 NDUFS8 Ellen McDonagh Added comment: Comment on publications: PMID: 15159508 - does not mention seizures in the case.
Early onset or syndromic epilepsy v0.1541 NDUFS8 Ellen McDonagh Publications for gene: NDUFS8 were set to
Early onset or syndromic epilepsy v0.1540 SLC45A1 Sarah Leigh Phenotypes for gene: SLC45A1 were changed from to Intellectual developmental disorder with neuropsychiatric features 617532
Early onset or syndromic epilepsy v0.1539 SLC45A1 Sarah Leigh Mode of inheritance for gene: SLC45A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1538 NDUFS8 Ellen McDonagh Classified gene: NDUFS8 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1538 NDUFS8 Ellen McDonagh Added comment: Comment on list classification: Curated in OMIM for Leigh syndrome due to mitochondrial complex I deficiency and in Gene2Phenotype for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, which include seizures as a phenotype.
Early onset or syndromic epilepsy v0.1538 NDUFS8 Ellen McDonagh Gene: ndufs8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1537 HOXA1 Rebecca Foulger Phenotypes for gene: HOXA1 were changed from to Athabaskan brainstem dysgenesis syndrome, 601536; Bosley-Salih-Alorainy syndrome, 601536
Early onset or syndromic epilepsy v0.1536 SLC45A1 Sarah Leigh Publications for gene: SLC45A1 were set to
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Marked gene: NDUFS7 as ready
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Tag watchlist tag was added to gene: NDUFS7.
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Mode of inheritance for gene: NDUFS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1534 NDUFS7 Ellen McDonagh Mode of inheritance for gene: NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1533 NDUFS7 Ellen McDonagh Publications for gene: NDUFS7 were set to
Early onset or syndromic epilepsy v0.1532 NDUFS7 Ellen McDonagh commented on gene: NDUFS7: Though variants in this gene cause Leigh syndrome, there does not seem to be enough evidence for variants in this gene to be directly attributed to seizures/epilepsy from these publications.
Early onset or syndromic epilepsy v0.1532 NDUFS7 Ellen McDonagh commented on gene: NDUFS7: PMID: 10330338 - seizures not mentioned in the patients reported with NDUFS7.
Early onset or syndromic epilepsy v0.1532 SETD1B Sarah Leigh Marked gene: SETD1B as ready
Early onset or syndromic epilepsy v0.1532 SETD1B Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 SETD1B Sarah Leigh Gene: setd1b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 NDUFS7 Ellen McDonagh commented on gene: NDUFS7
Early onset or syndromic epilepsy v0.1532 RYR2 Sarah Leigh Marked gene: RYR2 as ready
Early onset or syndromic epilepsy v0.1532 RYR2 Sarah Leigh Gene: ryr2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 RUSC2 Sarah Leigh Marked gene: RUSC2 as ready
Early onset or syndromic epilepsy v0.1532 RUSC2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 RUSC2 Sarah Leigh Gene: rusc2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 RAB3GAP2 Sarah Leigh Marked gene: RAB3GAP2 as ready
Early onset or syndromic epilepsy v0.1532 RAB3GAP2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 RAB3GAP2 Sarah Leigh Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 RAB3GAP1 Sarah Leigh Marked gene: RAB3GAP1 as ready
Early onset or syndromic epilepsy v0.1532 RAB3GAP1 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 RAB3GAP1 Sarah Leigh Gene: rab3gap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 PSAT1 Sarah Leigh Marked gene: PSAT1 as ready
Early onset or syndromic epilepsy v0.1532 PSAT1 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 PSAT1 Sarah Leigh Gene: psat1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 NDP Sarah Leigh Marked gene: NDP as ready
Early onset or syndromic epilepsy v0.1532 NDP Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 NDP Sarah Leigh Gene: ndp has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 MAST1 Sarah Leigh Marked gene: MAST1 as ready
Early onset or syndromic epilepsy v0.1532 MAST1 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 MAST1 Sarah Leigh Gene: mast1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 MANBA Sarah Leigh Marked gene: MANBA as ready
Early onset or syndromic epilepsy v0.1532 MANBA Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 MANBA Sarah Leigh Gene: manba has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 HPRT1 Sarah Leigh Marked gene: HPRT1 as ready
Early onset or syndromic epilepsy v0.1532 HPRT1 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 HPRT1 Sarah Leigh Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 HEXB Sarah Leigh Marked gene: HEXB as ready
Early onset or syndromic epilepsy v0.1532 HEXB Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 HEXB Sarah Leigh Gene: hexb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 GLI3 Sarah Leigh Marked gene: GLI3 as ready
Early onset or syndromic epilepsy v0.1532 GLI3 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 GLI3 Sarah Leigh Gene: gli3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1532 GCSH Sarah Leigh Classified gene: GCSH as Red List (low evidence)
Early onset or syndromic epilepsy v0.1532 GCSH Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 GCSH Sarah Leigh Gene: gcsh has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1531 FOXRED1 Sarah Leigh Marked gene: FOXRED1 as ready
Early onset or syndromic epilepsy v0.1531 FOXRED1 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1531 FOXRED1 Sarah Leigh Gene: foxred1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1531 FIG4 Sarah Leigh Classified gene: FIG4 as Red List (low evidence)
Early onset or syndromic epilepsy v0.1531 FIG4 Sarah Leigh Gene: fig4 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1530 FIG4 Sarah Leigh Classified gene: FIG4 as Red List (low evidence)
Early onset or syndromic epilepsy v0.1530 FIG4 Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1530 FIG4 Sarah Leigh Gene: fig4 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1529 FIG4 Sarah Leigh Marked gene: FIG4 as ready
Early onset or syndromic epilepsy v0.1529 FIG4 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 FIG4 Sarah Leigh Gene: fig4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1529 FASTKD2 Sarah Leigh Marked gene: FASTKD2 as ready
Early onset or syndromic epilepsy v0.1529 FASTKD2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 FASTKD2 Sarah Leigh Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1529 DNAJC6 Sarah Leigh Marked gene: DNAJC6 as ready
Early onset or syndromic epilepsy v0.1529 DNAJC6 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 DNAJC6 Sarah Leigh Gene: dnajc6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1529 DPM2 Sarah Leigh Marked gene: DPM2 as ready
Early onset or syndromic epilepsy v0.1529 DPM2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 DPM2 Sarah Leigh Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1529 PDSS2 Sarah Leigh Marked gene: PDSS2 as ready
Early onset or syndromic epilepsy v0.1529 PDSS2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 PDSS2 Sarah Leigh Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1529 PCLO Sarah Leigh Marked gene: PCLO as ready
Early onset or syndromic epilepsy v0.1529 PCLO Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 PCLO Sarah Leigh Gene: pclo has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1529 NRAS Sarah Leigh Marked gene: NRAS as ready
Early onset or syndromic epilepsy v0.1529 NRAS Sarah Leigh Gene: nras has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1529 NRAS Sarah Leigh Classified gene: NRAS as Red List (low evidence)
Early onset or syndromic epilepsy v0.1529 NRAS Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 NRAS Sarah Leigh Gene: nras has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1528 NECAP1 Sarah Leigh Marked gene: NECAP1 as ready
Early onset or syndromic epilepsy v0.1528 NECAP1 Sarah Leigh Added comment: Comment when marking as ready: Single family reported.
Early onset or syndromic epilepsy v0.1528 NECAP1 Sarah Leigh Gene: necap1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1528 OTX2 Sarah Leigh Marked gene: OTX2 as ready
Early onset or syndromic epilepsy v0.1528 OTX2 Sarah Leigh Gene: otx2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1528 NDUFAF4 Sarah Leigh Marked gene: NDUFAF4 as ready
Early onset or syndromic epilepsy v0.1528 NDUFAF4 Sarah Leigh Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1528 PIGC Sarah Leigh Marked gene: PIGC as ready
Early onset or syndromic epilepsy v0.1528 PIGC Sarah Leigh Gene: pigc has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1528 NDUFAF4 Sarah Leigh Tag watchlist tag was added to gene: NDUFAF4.
Adult solid tumours for rare disease v1.21 PDGFRA Anna de Burca gene: PDGFRA was added
gene: PDGFRA was added to Adult solid tumours for rare disease. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor
Penetrance for gene: PDGFRA were set to Incomplete
Review for gene: PDGFRA was set to AMBER
Added comment: Although GIST is predominantly associated with somatic variants in this gene, germline variants have been described in familial GIST and it is green on the sarcoma pertinent cancer susceptibility panel.
Sources: Literature
Intellectual disability v2.581 DHDDS Rebecca Foulger Added comment: Comment on mode of inheritance: Sabry et al (PMID:27343064) report a patient with DHDDS deficiency. The patient died at 8 months during a status epilepticus. The patient was compound heterozygous for variants in the DHDDS gene. The patient is also homozygous for the c.911 T>C (p.F304S) ALG6 variant that occurs in about one third of the population and does not cause CDG (but is a disease modifier to exacerbate symptoms in patients with glycosylation pathway defects). During his short life, the boy made little psychomotor acquisitions, had no eye contact, poor sucking with frequent regurgitations and failure to thrive. I have selected both monoallelic and biallelic MOI to cover MIM:617836 (AD) and future cases where ID presents as a symptom of a recessive glycosylation disorder.
Intellectual disability v2.581 DHDDS Rebecca Foulger Mode of inheritance for gene: DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.80 LZTFL1 Eleanor Williams Classified gene: LZTFL1 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.80 LZTFL1 Eleanor Williams Added comment: Comment on list classification: Updating from red to green due to 2 unrelated cases reported plus evidence that this is a cilium protein from mouse model.
Rare multisystem ciliopathy disorders v1.80 LZTFL1 Eleanor Williams Gene: lztfl1 has been classified as Green List (High Evidence).
Intellectual disability v2.580 DHDDS Rebecca Foulger gene: DHDDS was added
gene: DHDDS was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 29100083; 27343064
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, 617836
Review for gene: DHDDS was set to GREEN
Added comment: In 5 unrelated patients with developmental delay and seizures with or without movement abnormalities (DEDSM; 617836), Hamdan et al. (2017, PMID:29100083) identified 2 different de novo heterozygous missense mutations in the DHDDS gene (R37H and R211Q). The ID phenotype of patients covers severe/moderate-to-severe ID and global developmental delay.
Sources: Literature
Early onset or syndromic epilepsy v0.1528 DHDDS Rebecca Foulger Phenotypes for gene: DHDDS were changed from Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb; 613861 to Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb,613861
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Marked gene: DHDDS as ready
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Classified gene: DHDDS as Green List (high evidence)
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Added comment: Comment on list classification: Added gene to panel and rated green based on literature evidence (PMID:29100083) and relevant OMIM phenotype (MIM:617836). 5 unrelated heterozygous cases in PMID:29100083 plus 1 compound het case in PMID:27343064 for a patient with a glycosylation disorder including seizures. Therefore sufficient (>3) unrelated seizure cases for a diagnostic rating.
Early onset or syndromic epilepsy v0.1526 DHDDS Rebecca Foulger Gene: dhdds has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1525 DHDDS Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM (and PMID:29100083) report AD inheritance for Developmental delay and seizures with or without movement abnormalities, 617836. In addition, Sabry et al (PMID:27343064) report one individual with a glycosylation disorder (MIM:613861) and epilepsy, carrying compound heterozygous variants in DHDDS. Therefore selected 'both monoallelic and biallelic' MOI.
Early onset or syndromic epilepsy v0.1525 DHDDS Rebecca Foulger Mode of inheritance for gene: DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1524 DHDDS Rebecca Foulger commented on gene: DHDDS: Sabry et al (PMID:27343064) report a patient with DHDDS deficiency and epilepsy amongst his phenotypes. The patient died at 8 months during a status epilepticus. The patient was compound heterozygous for variants in the DHDDS gene. The patient is also homozygous for the c.911 T>C (p.F304S) ALG6 variant that occurs in about one third of the population and does not cause CDG (but is a disease modifier to exacerbate symptoms in patients with glycosylation pathway defects).
Early onset or syndromic epilepsy v0.1524 DHDDS Rebecca Foulger gene: DHDDS was added
gene: DHDDS was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: DHDDS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DHDDS were set to 27343064; 29100083
Phenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, 617836; developmental and epileptic encephalopathy (DEE); ?Congenital disorder of glycosylation, type 1bb; 613861
Review for gene: DHDDS was set to GREEN
Added comment: In 5 unrelated patients with developmental delay and seizures with or without movement abnormalities (DEDSM; 617836), Hamdan et al. (2017, PMID:29100083) identified 2 different de novo heterozygous missense mutations in the DHDDS gene (R37H and R211Q). These five individuals with de novo variants in DHDDS presented with a generalized epilepsy disorder with myoclonic seizures, either as myoclonic absences or as isolated cortical myoclonus, and sometimes with light sensitivity or fever susceptibility. Two of these individuals also presented with other generalized seizure types, including atonic seizures or generalized tonic-clonic seizures. In three individuals, EEG revealed clear generalized spike-wave discharges (and additional photosensitivity in one individual).
Sources: Literature
Early onset or syndromic epilepsy v0.1523 RALA Sarah Leigh Marked gene: RALA as ready
Early onset or syndromic epilepsy v0.1523 RALA Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least seven apparetly gain of function variants identified in eleven unrelated cases, with seizures reported in six of these cases.
Early onset or syndromic epilepsy v0.1523 RALA Sarah Leigh Gene: rala has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1523 RALA Sarah Leigh Added comment: Comment on publications: PMID for doi.org/10.1371/journal.pgen.1007671 not yet available
Early onset or syndromic epilepsy v0.1523 RALA Sarah Leigh Publications for gene: RALA were set to
Undiagnosed metabolic disorders v1.82 RPIA Sarah Leigh commented on gene: RPIA: Review by Konstantinos Varvagiannis for the Genetic Epilepsy syndromes panel. 9 Dec 2018, 1:44 a.m.
Panel version: 0.1488
Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611. PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T or p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG or p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548]. PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis. PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis. 2 of the 3 patients described in the literature presented seizures. As a result this gene can be considered for inclusion in this panel as amber. [This gene is also present in the Undiagnosed metabolic disorders gene panel as red. Please consider upgrade based on these further publications.]. Sources: Literature
Early onset or syndromic epilepsy v0.1522 NTRK2 Rebecca Foulger Marked gene: NTRK2 as ready
Early onset or syndromic epilepsy v0.1522 NTRK2 Rebecca Foulger Gene: ntrk2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1522 NTRK2 Rebecca Foulger Classified gene: NTRK2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1522 NTRK2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Added and reviewed Green by Konstantinos Varvagiannis. Although probable rating in DD-G2P for 'Epilepsy and ID', there are sufficient unrelated cases (>3) of patients with NTRK2 variants and seizures from PMID:29100083 and PMID:15494731 (2 variants) for both EE and obesity/hyperphagia phenotypes.
Early onset or syndromic epilepsy v0.1522 NTRK2 Rebecca Foulger Gene: ntrk2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1521 NTRK2 Rebecca Foulger commented on gene: NTRK2
Undiagnosed metabolic disorders v1.82 RPIA Sarah Leigh Publications for gene: RPIA were set to 27604308
Undiagnosed metabolic disorders v1.81 RPIA Sarah Leigh Classified gene: RPIA as Green List (high evidence)
Undiagnosed metabolic disorders v1.81 RPIA Sarah Leigh Added comment: Comment on list classification: Based on additional variants reported in PMIDs 28801340; 30088433.
Undiagnosed metabolic disorders v1.81 RPIA Sarah Leigh Gene: rpia has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.80 RPIA Sarah Leigh Classified gene: RPIA as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.80 RPIA Sarah Leigh Gene: rpia has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1521 RALA Sarah Leigh Classified gene: RALA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1521 RALA Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments and sufficient cases.
Early onset or syndromic epilepsy v0.1521 RALA Sarah Leigh Gene: rala has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1520 RPIA Sarah Leigh Marked gene: RPIA as ready
Early onset or syndromic epilepsy v0.1520 RPIA Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least five variants identified in three unrelated cases, with seizures as a phenotypic feature in two of these cases.
Early onset or syndromic epilepsy v0.1520 RPIA Sarah Leigh Gene: rpia has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1520 MAST1 Rebecca Foulger commented on gene: MAST1: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.1520 MAST1 Rebecca Foulger Tag watchlist tag was added to gene: MAST1.
Early onset or syndromic epilepsy v0.1520 MAST1 Rebecca Foulger Classified gene: MAST1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1520 MAST1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. 6 individuals in PMID:30449657 with MAST1 variants, and seizures in 2/6 patients. DDD participant DDD4K.02310 has a synonymous variant in RXRG and a missense variant in MAST (Supplementary material of PMID:28135719). 1 individual in PMID:23934111 (Epi4K encephalopathies) had seizures- listed as benign variant from Polyphen in the paper tables. The phenotype appears complex, and MAST1 is not yet linked to epilepsy in OMIM, and is not yet on the DD-G2P list. Therefore rated as Amber awaiting further confirmed cases from the literature or clinic.
Early onset or syndromic epilepsy v0.1520 MAST1 Rebecca Foulger Gene: mast1 has been classified as Amber List (Moderate Evidence).
Limb disorders v1.0 Eleanor Williams promoted panel to version 1.0
Early onset or syndromic epilepsy v0.1519 RPIA Sarah Leigh Phenotypes for gene: RPIA were changed from Ribose 5-phosphate isomerase deficiency, MIM 608611 to ?Ribose 5-phosphate isomerase deficiency 608611
Early onset or syndromic epilepsy v0.1518 RPIA Sarah Leigh Classified gene: RPIA as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1518 RPIA Sarah Leigh Added comment: Comment on list classification: Based on reviewers' comments and number of cases reported.
Early onset or syndromic epilepsy v0.1518 RPIA Sarah Leigh Gene: rpia has been classified as Amber List (Moderate Evidence).
Limb disorders v0.361 FANCB Eleanor Williams commented on gene: FANCB
Early onset or syndromic epilepsy v0.1517 TANGO2 Sarah Leigh Publications for gene: TANGO2 were set to 29369572; 30245509
Early onset or syndromic epilepsy v0.1516 TANGO2 Sarah Leigh Marked gene: TANGO2 as ready
Early onset or syndromic epilepsy v0.1516 TANGO2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three variants reported 7 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1516 TANGO2 Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1516 TANGO2 Sarah Leigh Classified gene: TANGO2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1516 TANGO2 Sarah Leigh Added comment: Comment on list classification: Based on reviewer's comments and sufficient evidence from the literature.
Early onset or syndromic epilepsy v0.1516 TANGO2 Sarah Leigh Gene: tango2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1515 TANGO2 Sarah Leigh Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878 to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Early onset or syndromic epilepsy v0.1514 CAD Rebecca Foulger Marked gene: CAD as ready
Early onset or syndromic epilepsy v0.1514 CAD Rebecca Foulger Gene: cad has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1514 CAD Rebecca Foulger commented on gene: CAD: Confirmed DD-G2P gene for Uridine-responsive epileptic encephalopathy.
Early onset or syndromic epilepsy v0.1514 CAD Rebecca Foulger Classified gene: CAD as Green List (high evidence)
Early onset or syndromic epilepsy v0.1514 CAD Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: 5 patients from 4 families in total (1 patient from PMID:25678555 and 4 more patients from 28007989) all with epileptic seizures (generalized tonic clonic seizures, severe epilepsy, generalised/focal seizures). Note that 2 of the families in PMID:28007989 were Serbian Roma descent with the same homozygous c.98T>G (Met33Arg) transversion, although listed as unrelated. Overall sufficient (>3) unrelated cases of epileptic seizures in patients with CAD variants, for inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.1514 CAD Rebecca Foulger Gene: cad has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1514 TXNRD1 Sarah Leigh Added comment: Comment on phenotypes: Seizures, myoclonic seizures and generalized tonic-clonic seizures which disappeared progressively
Early onset or syndromic epilepsy v0.1514 TXNRD1 Sarah Leigh Phenotypes for gene: TXNRD1 were changed from genetic generalized epilepsy to genetic generalized epilepsy
Early onset or syndromic epilepsy v0.1513 TXNRD1 Sarah Leigh Marked gene: TXNRD1 as ready
Early onset or syndromic epilepsy v0.1513 TXNRD1 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Based on single report of homozygous variants in five siblings three of whom have genetic generalized epilepsy (PMID 28232204), thus suggestive of incomplete penetrance. In vitro functional studies demonstrate the pathogenicity of the variant c.569 C>T, p.Pro190Leu, NM_182743.2, NP_877393.1. Furthermore, mouse models provide some evidence for the potential role of TXNRD1 in epilepsy, with nervous system-specific inactivation of Txnrd1 in mice resulting in ataxia, tremor and cerebellar hypoplasia. Although, cerebellar development was not impaired in neuron-specific Txnrd1 knockout mice. (PMID 18350150).
Early onset or syndromic epilepsy v0.1513 TXNRD1 Sarah Leigh Gene: txnrd1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1513 TXNRD1 Sarah Leigh Penetrance for gene TXNRD1 was set from to None
Early onset or syndromic epilepsy v0.1512 TXNRD1 Sarah Leigh Added comment: Comment on publications: PMID 18350150 Nervous system-specific inactivation of Txnrd1 in mice led to ataxia, tremor and cerebellar hypoplasia. However, cerebellar development was not impaired in neuron-specific Txnrd1 knockout mice.
Early onset or syndromic epilepsy v0.1512 TXNRD1 Sarah Leigh Publications for gene: TXNRD1 were set to 28232204
Early onset or syndromic epilepsy v0.1511 TXNRD1 Sarah Leigh Classified gene: TXNRD1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1511 TXNRD1 Sarah Leigh Gene: txnrd1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.361 LZTFL1 Eleanor Williams Classified gene: LZTFL1 as No list
Limb disorders v0.361 LZTFL1 Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is on the Rare multisystem ciliopathy disorders panel (v1.79) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. Currently red on cilliopathy panel but this will be reviewed.
Limb disorders v0.361 LZTFL1 Eleanor Williams Gene: lztfl1 has been removed from the panel.
Early onset or syndromic epilepsy v0.1510 TXNRD1 Sarah Leigh gene: TXNRD1 was added
gene: TXNRD1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TXNRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNRD1 were set to 28232204
Phenotypes for gene: TXNRD1 were set to genetic generalized epilepsy
Review for gene: TXNRD1 was set to AMBER
Added comment: Sources: Literature
Early onset or syndromic epilepsy v0.1509 SIX3 Sarah Leigh Added comment: Comment on publications: PMID 18791198 discusses incomplete penetrance.
Early onset or syndromic epilepsy v0.1509 SIX3 Sarah Leigh Publications for gene: SIX3 were set to 28670735; 20157829; 19346217
Early onset or syndromic epilepsy v0.1508 NPRL2 Ellen McDonagh Marked gene: NPRL2 as ready
Early onset or syndromic epilepsy v0.1508 NPRL2 Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1508 NPRL2 Ellen McDonagh Classified gene: NPRL2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1508 NPRL2 Ellen McDonagh Added comment: Comment on list classification: At this time, as there are many unaffected family members with the variants identified in affected patients, Arianna Tucci (Genomics England Clinical Team) agrees that it is best to keep this gene amber for now, due to lack of enough evidence for a monogenic role of this gene in epilepsy.
Early onset or syndromic epilepsy v0.1508 NPRL2 Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1507 NPRL2 Ellen McDonagh Classified gene: NPRL2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1507 NPRL2 Ellen McDonagh Added comment: Comment on list classification: Knockout mice do not seem to have a seizure phenotype: http://www.informatics.jax.org/marker/phenotypes/MGI:1914482
Early onset or syndromic epilepsy v0.1507 NPRL2 Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1506 SIX3 Sarah Leigh Marked gene: SIX3 as ready
Early onset or syndromic epilepsy v0.1506 SIX3 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene, however, seizures have only been reported in two cases of SIX3 variant carriers. In PMID: 20157829, patient 4 had a seizure but certain epilepsy characteristic activity in the subsequent electroencephalogram (EEG) was not met. The variants (c.618C>A + c.621G>A; p.Gly206Gly + p.Glu207Glu) were found in this case. The synonymous variant c.621G>A, was not predicted to effect splicing, although it was was predicted to create a consensus sequence motif for an additional SF2/ASF (score 2.71378; threshold 1.956) as well as SRp40 (score 2.98263; threshold 2.67) splice enhancer. Both consensus sequences are recognized by the human proteins SF2/ASF or SRp40, respectively, and are important for the recognition and utilization of regular as well as alternative splice sites (Wang et al. 2005), and these may be considered to be pathogenic.
In PMID 28670735 a deletion of SIX3 gene was reported in a case with seizures, but incomplete penetrance has been suggested. The publication PMID 19346217 mentions seizures as a clinical feature, however, precise details about cases cannot be found as the supplementary material tables 1a & b are no longer available (the authors have been contacted, December 2018).
Early onset or syndromic epilepsy v0.1506 SIX3 Sarah Leigh Gene: six3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1506 NPRL2 Ellen McDonagh Tag watchlist tag was added to gene: NPRL2.
Early onset or syndromic epilepsy v0.1506 NPRL2 Ellen McDonagh Classified gene: NPRL2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1506 NPRL2 Ellen McDonagh Added comment: Comment on list classification: Four families reported (see publications), however the same variants were identified in unaffected family members, with the publications stating this is due to incomplete penetrance.
Early onset or syndromic epilepsy v0.1506 NPRL2 Ellen McDonagh Gene: nprl2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1505 NPRL2 Ellen McDonagh Source Victorian Clinical Genetics Services was removed from NPRL2.
Source Expert Review was added to NPRL2.
Penetrance for gene NPRL2 was set from to None
Early onset or syndromic epilepsy v0.1504 SIX3 Sarah Leigh Publications for gene: SIX3 were set to 28670735; 20157829
Early onset or syndromic epilepsy v0.1503 NPRL2 Ellen McDonagh Mode of inheritance for gene: NPRL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1502 NPRL2 Ellen McDonagh Publications for gene: NPRL2 were set to
Early onset or syndromic epilepsy v0.1501 NPRL2 Ellen McDonagh Phenotypes for gene: NPRL2 were changed from to Epilepsy, familial focal, with variable foci 2 617116
Early onset or syndromic epilepsy v0.1500 NGLY1 Ellen McDonagh Classified gene: NGLY1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1500 NGLY1 Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures.
Early onset or syndromic epilepsy v0.1500 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Marked gene: NGLY1 as ready
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Classified gene: NGLY1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures.
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1498 NGLY1 Ellen McDonagh Added comment: Comment on publications: PMID: 24651605 - 4 out of 8 patients with deficiency of N-glycanase 1 had seizures as a clinical feature.
Early onset or syndromic epilepsy v0.1498 NGLY1 Ellen McDonagh Publications for gene: NGLY1 were set to 22581936; 24651605
Early onset or syndromic epilepsy v0.1496 NGLY1 Ellen McDonagh Added comment: Comment on publications: PMID: 22581936 - describes a male patient with developmental delay, multifocal epilepsy, involuntary movements, abnormal liver function, absent tears. Sequencing revealed a frameshift variant inherited from his mother and a nonsense mutation from his father.
Early onset or syndromic epilepsy v0.1496 NGLY1 Ellen McDonagh Publications for gene: NGLY1 were set to
Early onset or syndromic epilepsy v0.1495 NGLY1 Ellen McDonagh Mode of inheritance for gene: NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1493 NGLY1 Ellen McDonagh Classified gene: NGLY1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1493 NGLY1 Ellen McDonagh Added comment: Comment on list classification: This is a Green gene on the Congenital disorders of glycosylation (Version 1.20) gene panel, with more than 4 families/cases with Congenital disorder of deglycosylation reported with variants in this gene.
Early onset or syndromic epilepsy v0.1493 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1492 NGLY1 Ellen McDonagh Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation 615273
Fetal anomalies v0.9 ZSWIM6 Rebecca Foulger commented on gene: ZSWIM6: DDG2P rating in original PAGE list: Probable for ACROMELIC FRONTONASAL DYSOSTOSIS
Fetal anomalies v0.9 ZNF750 Rebecca Foulger reviewed gene: ZNF750: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZNF711 Rebecca Foulger reviewed gene: ZNF711: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZNF462 Rebecca Foulger reviewed gene: ZNF462: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZNF423 Rebecca Foulger reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZMYND11 Rebecca Foulger reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZMYND10 Rebecca Foulger reviewed gene: ZMYND10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZMPSTE24 Rebecca Foulger reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZIC3 Rebecca Foulger commented on gene: ZIC3: DDG2P rating in original PAGE list: Confirmed for VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS, and Confirmed for HETEROTAXY SYNDROME.
Fetal anomalies v0.9 ZIC2 Rebecca Foulger reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZIC1 Rebecca Foulger commented on gene: ZIC1: DDG2P rating in original PAGE list: Confirmed for CRANIOSYNOSTOSIS 6
Fetal anomalies v0.9 ZFYVE26 Rebecca Foulger reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZFP57 Rebecca Foulger reviewed gene: ZFP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZEB2 Rebecca Foulger reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZDHHC9 Rebecca Foulger reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ZC4H2 Rebecca Foulger commented on gene: ZC4H2: DDG2P rating in original PAGE list: Confirmed for ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY.
Fetal anomalies v0.9 ZBTB20 Rebecca Foulger commented on gene: ZBTB20: DDG2P rating in original PAGE list: Confirmed for PRIMROSE SYNDROME
Fetal anomalies v0.9 ZBTB18 Rebecca Foulger reviewed gene: ZBTB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 YY1 Rebecca Foulger commented on gene: YY1: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 YWHAG Rebecca Foulger commented on gene: YWHAG: DDG2P rating in original PAGE list: Probable for Early-Onset Epilepsy
Fetal anomalies v0.9 YAP1 Rebecca Foulger reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 XYLT2 Rebecca Foulger reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 XYLT1 Rebecca Foulger reviewed gene: XYLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 XRCC4 Rebecca Foulger reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 XPC Rebecca Foulger reviewed gene: XPC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 XPA Rebecca Foulger reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WWOX Rebecca Foulger commented on gene: WWOX: DDG2P rating in original PAGE list: Probable for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 and Probable for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28.
Fetal anomalies v0.9 WT1 Rebecca Foulger commented on gene: WT1: DDG2P rating in original PAGE list: Confirmed for DENYS-DRASH SYNDROME and Confirmed for FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME.
Fetal anomalies v0.9 WRAP53 Rebecca Foulger commented on gene: WRAP53: DDG2P rating in original PAGE list: Confirmed for DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.9 WNT7A Rebecca Foulger commented on gene: WNT7A: DDG2P rating in original PAGE list: Confirmed for FUHRMANN SYNDROME and Confirmed for LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME.
Fetal anomalies v0.9 WNT5A Rebecca Foulger commented on gene: WNT5A: DDG2P rating in original PAGE list: Confirmed for WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT
Fetal anomalies v0.9 WNT4 Rebecca Foulger commented on gene: WNT4: DDG2P rating in original PAGE list: Probable for SERKAL SYNDROME and Probable for MULLERIAN APLASIA AND HYPERANDROGENISM.
Fetal anomalies v0.9 WNT3 Rebecca Foulger reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WNT10B Rebecca Foulger reviewed gene: WNT10B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WNT1 Rebecca Foulger reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WDR73 Rebecca Foulger reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WDR62 Rebecca Foulger reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WDR60 Rebecca Foulger reviewed gene: WDR60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WDR45 Rebecca Foulger reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WDR35 Rebecca Foulger reviewed gene: WDR35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WDR34 Rebecca Foulger commented on gene: WDR34: DDG2P rating in original PAGE list: Confirmed for SHORT-RIB POLYDACTYLY SYNDROME TYPE III and Confirmed for SEVERE ASPHYXIATING THORACIC DYSPLASIA.
Fetal anomalies v0.9 WDR26 Rebecca Foulger reviewed gene: WDR26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WDR19 Rebecca Foulger commented on gene: WDR19: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA 4 and Confirmed for ASPHYXIATING THORACIC DYSTROPHY 5.
Fetal anomalies v0.9 WDR11 Rebecca Foulger commented on gene: WDR11: DDG2P rating in original PAGE list: Confirmed for KALLMANN SYNDROME
Fetal anomalies v0.9 WDPCP Rebecca Foulger reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WASHC5 Rebecca Foulger reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 WAC Rebecca Foulger reviewed gene: WAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 VSX2 Rebecca Foulger commented on gene: VSX2: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 and Confirmed for MICROPHTHALMIA ISOLATED TYPE 2.
Fetal anomalies v0.9 VRK1 Rebecca Foulger reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 VPS53 Rebecca Foulger reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 VPS33B Rebecca Foulger reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 VPS13B Rebecca Foulger reviewed gene: VPS13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 VLDLR Rebecca Foulger reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 VIPAS39 Rebecca Foulger reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 VDR Rebecca Foulger reviewed gene: VDR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UVSSA Rebecca Foulger reviewed gene: UVSSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 USP9X Rebecca Foulger commented on gene: USP9X: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, X-LINKED 99
Fetal anomalies v0.9 USP27X Rebecca Foulger reviewed gene: USP27X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 USP18 Rebecca Foulger reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 USB1 Rebecca Foulger reviewed gene: USB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UROS Rebecca Foulger reviewed gene: UROS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UROC1 Rebecca Foulger commented on gene: UROC1: DDG2P rating in original PAGE list: Confirmed for UROCANASE DEFICIENCY
Fetal anomalies v0.9 UQCRQ Rebecca Foulger commented on gene: UQCRQ: DDG2P rating in original PAGE list: Probable for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED
Fetal anomalies v0.9 UQCRB Rebecca Foulger reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UPF3B Rebecca Foulger reviewed gene: UPF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UNC80 Rebecca Foulger reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UMPS Rebecca Foulger reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UGT1A1 Rebecca Foulger reviewed gene: UGT1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UBTF Rebecca Foulger commented on gene: UBTF: DDG2P rating in original PAGE list: Probable for Childhood-Onset Neurodegeneration
Fetal anomalies v0.9 UBR1 Rebecca Foulger reviewed gene: UBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UBE3B Rebecca Foulger reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UBE3A Rebecca Foulger commented on gene: UBE3A: DDG2P rating in original PAGE list: Confirmed for ANGELMAN SYNDROME
Fetal anomalies v0.9 UBE2T Rebecca Foulger reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UBE2A Rebecca Foulger reviewed gene: UBE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UBA5 Rebecca Foulger reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 UBA1 Rebecca Foulger reviewed gene: UBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TYRP1 Rebecca Foulger reviewed gene: TYRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TYR Rebecca Foulger reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TXNL4A Rebecca Foulger reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TWIST1 Rebecca Foulger reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TUSC3 Rebecca Foulger reviewed gene: TUSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TUFM Rebecca Foulger commented on gene: TUFM: DDG2P rating in original PAGE list: Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
Fetal anomalies v0.9 TUBGCP6 Rebecca Foulger reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TUBGCP4 Rebecca Foulger reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TUBG1 Rebecca Foulger commented on gene: TUBG1: DDG2P rating in original PAGE list: Probable for Posteriorly predominant pachygyria and severe microcephaly
Fetal anomalies v0.9 TUBB4A Rebecca Foulger commented on gene: TUBB4A: DDG2P rating in original PAGE list: Confirmed for HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Fetal anomalies v0.9 TUBB3 Rebecca Foulger commented on gene: TUBB3: DDG2P rating in original PAGE list: Probable for CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES and Probable for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1.
Fetal anomalies v0.9 TUBB2B Rebecca Foulger commented on gene: TUBB2B: DDG2P rating in original PAGE list: Confirmed for POLYMICROGYRIA ASYMMETRIC
Fetal anomalies v0.9 TUBB2A Rebecca Foulger commented on gene: TUBB2A: DDG2P rating in original PAGE list: Confirmed for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
Fetal anomalies v0.9 TUBB Rebecca Foulger commented on gene: TUBB: DDG2P rating in original PAGE list: Confirmed for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 and Confirmed for Circumferential Skin Creases Kunze Type.
Fetal anomalies v0.9 TUBA8 Rebecca Foulger reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TUBA1A Rebecca Foulger commented on gene: TUBA1A: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY and Confirmed for LISSENCEPHALY TYPE 3.
Fetal anomalies v0.9 TTI2 Rebecca Foulger commented on gene: TTI2: DDG2P rating in original PAGE list: Probable for AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.9 TTC8 Rebecca Foulger commented on gene: TTC8: DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA TYPE 51 and Confirmed for BARDET-BIEDL SYNDROME TYPE 8.
Fetal anomalies v0.9 TTC7A Rebecca Foulger reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TTC37 Rebecca Foulger reviewed gene: TTC37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TTC25 Rebecca Foulger reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TTC21B Rebecca Foulger reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TTC19 Rebecca Foulger reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TSPAN7 Rebecca Foulger reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TSHR Rebecca Foulger commented on gene: TSHR: DDG2P rating in original PAGE list: Confirmed for HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 and Confirmed for HYPERTHYROIDISM, FAMILIAL GESTATIONAL.
Fetal anomalies v0.9 TSHB Rebecca Foulger reviewed gene: TSHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TSEN54 Rebecca Foulger reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TSEN34 Rebecca Foulger commented on gene: TSEN34: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.9 TSEN2 Rebecca Foulger commented on gene: TSEN2: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.9 TSEN15 Rebecca Foulger commented on gene: TSEN15: DDG2P rating in original PAGE list: Probable for Pontocerebellar Hypoplasia and Progressive Microcephaly
Fetal anomalies v0.9 TSC2 Rebecca Foulger reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TSC1 Rebecca Foulger reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRPV4 Rebecca Foulger commented on gene: TRPV4: DDG2P rating in original PAGE list: Confirmed for SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE and Confirmed for METATROPIC DYSPLASIA.
Fetal anomalies v0.9 TRPV3 Rebecca Foulger commented on gene: TRPV3: DDG2P rating in original PAGE list: Probable for OLMSTED SYNDROME
Fetal anomalies v0.9 TRPS1 Rebecca Foulger reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRPM1 Rebecca Foulger reviewed gene: TRPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRMT10C Rebecca Foulger commented on gene: TRMT10C: DDG2P rating in original PAGE list: Probable for Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Fetal anomalies v0.9 TRIP4 Rebecca Foulger reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRIP13 Rebecca Foulger reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRIP12 Rebecca Foulger reviewed gene: TRIP12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRIP11 Rebecca Foulger reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRIO Rebecca Foulger commented on gene: TRIO: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 TRIM37 Rebecca Foulger reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRIM32 Rebecca Foulger commented on gene: TRIM32: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 11 and Confirmed for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H.
Fetal anomalies v0.9 TREX1 Rebecca Foulger reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRAPPC9 Rebecca Foulger reviewed gene: TRAPPC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRAPPC2 Rebecca Foulger reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRAPPC12 Rebecca Foulger edited their review of gene: TRAPPC12: Added comment: DDG2P rating in original PAGE list: Probable for Progressive Childhood Encephalopathy and Golgi Dysfunction; Changed rating: AMBER
Fetal anomalies v0.9 TRAPPC11 Rebecca Foulger reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TRAIP Rebecca Foulger reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TPP1 Rebecca Foulger reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TPM3 Rebecca Foulger reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TPM2 Rebecca Foulger commented on gene: TPM2: DDG2P rating in original PAGE list: Probable for ARTHROGRYPOSIS, DISTAL, TYPE 1
Fetal anomalies v0.9 TP63 Rebecca Foulger commented on gene: TP63: DDG2P rating in original PAGE list: Confirmed for ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, Confirmed for SPLIT-HAND/FOOT MALFORMATION TYPE 4, Confirmed for ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, Confirmed for NON-SYNDROMIC OROFACIAL CLEFT TYPE 8, Confirmed for ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, Confirmed for ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME and Confirmed for LIMB-MAMMARY SYNDROME.
Fetal anomalies v0.9 TOE1 Rebecca Foulger reviewed gene: TOE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TNXB Rebecca Foulger reviewed gene: TNXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TNNT1 Rebecca Foulger reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TNNI2 Rebecca Foulger reviewed gene: TNNI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TNFRSF13B Rebecca Foulger reviewed gene: TNFRSF13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TNFRSF11B Rebecca Foulger reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMTC3 Rebecca Foulger reviewed gene: TMTC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMPRSS6 Rebecca Foulger reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM70 Rebecca Foulger reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM67 Rebecca Foulger commented on gene: TMEM67: DDG2P rating in original PAGE list: Confirmed for COACH SYNDROM, Confirmed for MECKEL SYNDROME TYPE 3, Confirmed for JOUBERT SYNDROME TYPE 6 and Confirmed for NEPHRONOPHTHISIS TYPE 11.
Fetal anomalies v0.9 TMEM260 Rebecca Foulger reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM237 Rebecca Foulger reviewed gene: TMEM237: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM231 Rebecca Foulger reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM216 Rebecca Foulger commented on gene: TMEM216: DDG2P rating in original PAGE list: Probable for JOUBERT SYNDROME 2
Fetal anomalies v0.9 TMEM165 Rebecca Foulger reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM138 Rebecca Foulger reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM126B Rebecca Foulger reviewed gene: TMEM126B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMCO1 Rebecca Foulger reviewed gene: TMCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TKT Rebecca Foulger reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TK2 Rebecca Foulger commented on gene: TK2: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
Fetal anomalies v0.9 TINF2 Rebecca Foulger reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 THRA Rebecca Foulger reviewed gene: THRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 THOC6 Rebecca Foulger reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 THOC2 Rebecca Foulger commented on gene: THOC2: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, X-LINKED 12
Fetal anomalies v0.9 TH Rebecca Foulger reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TGM1 Rebecca Foulger reviewed gene: TGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TGIF1 Rebecca Foulger reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TGFBR2 Rebecca Foulger reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TGFBR1 Rebecca Foulger commented on gene: TGFBR1: DDG2P rating in original PAGE list: Confirmed for LOEYS-DIETZ SYNDROME TYPE 2A, Confirmed for LOEYS-DIETZ SYNDROME TYPE 1A, and Confirmed for AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5.
Fetal anomalies v0.9 TGFB3 Rebecca Foulger reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TGFB1 Rebecca Foulger commented on gene: TGFB1: DDG2P rating in original PAGE list: Confirmed for CAMURATI-ENGELMANN DISEASE
Fetal anomalies v0.9 TGDS Rebecca Foulger reviewed gene: TGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TFAP2B Rebecca Foulger commented on gene: TFAP2B: DDG2P rating in original PAGE list: Confirmed for CHAR SYNDROME
Fetal anomalies v0.9 TFAP2A Rebecca Foulger commented on gene: TFAP2A: DDG2P rating in original PAGE list: Confirmed for BRANCHIOOCULOFACIAL SYNDROME
Fetal anomalies v0.9 TERT Rebecca Foulger commented on gene: TERT: DDG2P rating in original PAGE list: Confirmed for Dyskeratosis congenita, autosomal recessive 4
Fetal anomalies v0.9 TELO2 Rebecca Foulger commented on gene: TELO2: DDG2P rating in original PAGE list: Probable for TELO2 Syndromic Intellectual Disability Disorder
Fetal anomalies v0.9 TEK Rebecca Foulger commented on gene: TEK: DDG2P rating in original PAGE list: Confirmed for VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
Fetal anomalies v0.9 TECPR2 Rebecca Foulger reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCTN3 Rebecca Foulger reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCTN2 Rebecca Foulger reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCOF1 Rebecca Foulger reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCN2 Rebecca Foulger reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCIRG1 Rebecca Foulger reviewed gene: TCIRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCF4 Rebecca Foulger reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCF20 Rebecca Foulger reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TCF12 Rebecca Foulger reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBXAS1 Rebecca Foulger commented on gene: TBXAS1: DDG2P rating in original PAGE list: Confirmed for GHOSAL HEMATODIAPHYSEAL SYNDROME
Fetal anomalies v0.9 TBX6 Rebecca Foulger reviewed gene: TBX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX5 Rebecca Foulger reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX4 Rebecca Foulger reviewed gene: TBX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX3 Rebecca Foulger reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX22 Rebecca Foulger reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX20 Rebecca Foulger reviewed gene: TBX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX18 Rebecca Foulger reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX15 Rebecca Foulger reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBX1 Rebecca Foulger reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBR1 Rebecca Foulger reviewed gene: TBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBL1XR1 Rebecca Foulger reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBCK Rebecca Foulger reviewed gene: TBCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBCD Rebecca Foulger reviewed gene: TBCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TBC1D24 Rebecca Foulger commented on gene: TBC1D24: DDG2P rating in original PAGE list: Confirmed for NON SYNDROMAL HEARING LOSS, Confirmed for MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, and Confirmed for DOORS SYNDROME.
Fetal anomalies v0.9 TBC1D23 Rebecca Foulger reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TAZ Rebecca Foulger reviewed gene: TAZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TAT Rebecca Foulger reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TAPT1 Rebecca Foulger reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TANGO2 Rebecca Foulger reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TAF13 Rebecca Foulger commented on gene: TAF13: DDG2P rating in original PAGE list: Probable for Autosomal-Recessive Intellectual Disability and Microcephaly
Fetal anomalies v0.9 TAF1 Rebecca Foulger reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TACR3 Rebecca Foulger commented on gene: TACR3: DDG2P rating in original PAGE list: Probable for HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.9 TACO1 Rebecca Foulger reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TAC3 Rebecca Foulger commented on gene: TAC3: DDG2P rating in original PAGE list: Probable for HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.9 TAB2 Rebecca Foulger commented on gene: TAB2: DDG2P rating in original PAGE list: Confirmed for CONGENITAL HEART DISEASE, NONSYNDROMIC, 2
Fetal anomalies v0.9 SZT2 Rebecca Foulger reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SYP Rebecca Foulger reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SYNGAP1 Rebecca Foulger reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SYN1 Rebecca Foulger reviewed gene: SYN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SURF1 Rebecca Foulger reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SUMF1 Rebecca Foulger reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SUCLG1 Rebecca Foulger reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STXBP1 Rebecca Foulger reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STX1B Rebecca Foulger reviewed gene: STX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STS Rebecca Foulger reviewed gene: STS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STRA6 Rebecca Foulger reviewed gene: STRA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STIL Rebecca Foulger reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STAT5B Rebecca Foulger reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STAT1 Rebecca Foulger commented on gene: STAT1: DDG2P rating in original PAGE list: Confirmed for STAT1 DEFICIENCY COMPLETE, Confirmed for MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE and Confirmed for FAMILIAL CANDIDIASIS TYPE 7.
Fetal anomalies v0.9 STAR Rebecca Foulger reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STAMBP Rebecca Foulger reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 STAG1 Rebecca Foulger reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ST3GAL5 Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ST3GAL3 Rebecca Foulger commented on gene: ST3GAL3: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.9 ST14 Rebecca Foulger commented on gene: ST14: DDG2P rating in original PAGE list: Probable for ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS
Fetal anomalies v0.9 SRY Rebecca Foulger reviewed gene: SRY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SRP54 Rebecca Foulger commented on gene: SRP54: DDG2P rating in original PAGE list: Probable for Syndromic neutropenia with Shwachman-Diamond-like features
Fetal anomalies v0.9 SRD5A3 Rebecca Foulger reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SRD5A2 Rebecca Foulger reviewed gene: SRD5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SRCAP Rebecca Foulger commented on gene: SRCAP: DDG2P rating in original PAGE list: Confirmed for FLOATING-HARBOR SYNDROME
Fetal anomalies v0.9 SPTAN1 Rebecca Foulger commented on gene: SPTAN1: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5
Fetal anomalies v0.9 SPRY4 Rebecca Foulger commented on gene: SPRY4: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 SPRED1 Rebecca Foulger reviewed gene: SPRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SPR Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SPG11 Rebecca Foulger reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SPEG Rebecca Foulger reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SPECC1L Rebecca Foulger commented on gene: SPECC1L: DDG2P rating in original PAGE list: Probable for FACIAL CLEFTING, OBLIQUE, 1
Fetal anomalies v0.9 SPATA5 Rebecca Foulger reviewed gene: SPATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SPARC Rebecca Foulger commented on gene: SPARC: DDG2P rating in original PAGE list: Probable for OSTEOGENESIS IMPERFECTA, TYPE XVII
Fetal anomalies v0.9 SPAG1 Rebecca Foulger reviewed gene: SPAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SP110 Rebecca Foulger reviewed gene: SP110: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SOX9 Rebecca Foulger commented on gene: SOX9: DDG2P rating in original PAGE list: Confirmed for PIERRE ROBIN SEQUENCE and Confirmed for CAMPOMELIC DYSPLASIA.
Fetal anomalies v0.9 SOX5 Rebecca Foulger reviewed gene: SOX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SOX3 Rebecca Foulger commented on gene: SOX3: DDG2P rating in original PAGE list: Confirmed for SEX REVERSAL TYPE 3 and Confirmed for MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY.
Fetal anomalies v0.9 SOX2 Rebecca Foulger reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SOX17 Rebecca Foulger commented on gene: SOX17: DDG2P rating in original PAGE list: Confirmed for VESICOURETERAL REFLUX TYPE 3
Fetal anomalies v0.9 SOX11 Rebecca Foulger commented on gene: SOX11: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
Fetal anomalies v0.9 SOX10 Rebecca Foulger commented on gene: SOX10: DDG2P rating in original PAGE list: Confirmed for PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, Confirmed for YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, Confirmed for WAARDENBURG SYNDROME TYPE 2E, Confirmed for KALLMANN SYNDROME WITH DEAFNESS and Confirmed for WAARDENBURG SYNDROME TYPE 4C.
Fetal anomalies v0.9 SOST Rebecca Foulger reviewed gene: SOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SOS1 Rebecca Foulger commented on gene: SOS1: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME 4
Fetal anomalies v0.9 SON Rebecca Foulger reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SNX14 Rebecca Foulger reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SNRPE Rebecca Foulger commented on gene: SNRPE: DDG2P rating in original PAGE list: Probable for AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX
Fetal anomalies v0.9 SNRPB Rebecca Foulger reviewed gene: SNRPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SNAP29 Rebecca Foulger reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SNAP25 Rebecca Foulger commented on gene: SNAP25: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 SMS Rebecca Foulger reviewed gene: SMS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMPD1 Rebecca Foulger reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMOC2 Rebecca Foulger reviewed gene: SMOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMOC1 Rebecca Foulger reviewed gene: SMOC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMO Rebecca Foulger commented on gene: SMO: DDG2P rating in original PAGE list: Confirmed for Curry-Jones Syndrome
Fetal anomalies v0.9 SMN1 Rebecca Foulger reviewed gene: SMN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMG9 Rebecca Foulger reviewed gene: SMG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMC3 Rebecca Foulger commented on gene: SMC3: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE SYNDROME TYPE 3
Fetal anomalies v0.9 SMC1A Rebecca Foulger commented on gene: SMC1A: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE SYNDROME TYPE 2 and Confirmed for EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.9 SMARCE1 Rebecca Foulger commented on gene: SMARCE1: DDG2P rating in original PAGE list: Probable for COFFIN SIRIS
Fetal anomalies v0.9 SMARCB1 Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMARCAL1 Rebecca Foulger reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMARCA4 Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SMARCA2 Rebecca Foulger commented on gene: SMARCA2: DDG2P rating in original PAGE list: Confirmed for COFFIN SIRIS and Confirmed for NICOLAIDES-BARAITSER SYNDROME.
Fetal anomalies v0.9 SMAD3 Rebecca Foulger reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLX4 Rebecca Foulger reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC9A6 Rebecca Foulger reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC6A9 Rebecca Foulger reviewed gene: SLC6A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC6A8 Rebecca Foulger reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC6A3 Rebecca Foulger reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC6A17 Rebecca Foulger commented on gene: SLC6A17: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Fetal anomalies v0.9 SLC6A1 Rebecca Foulger reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC5A7 Rebecca Foulger commented on gene: SLC5A7: DDG2P rating in original PAGE list: Probable for Congenital Myasthenic Syndrome with Episodic Apnea
Fetal anomalies v0.9 SLC5A5 Rebecca Foulger reviewed gene: SLC5A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC52A3 Rebecca Foulger reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC4A4 Rebecca Foulger reviewed gene: SLC4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC46A1 Rebecca Foulger reviewed gene: SLC46A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC45A1 Rebecca Foulger commented on gene: SLC45A1: DDG2P rating in original PAGE list: Probable for Intellectual disability and epilepsy
Fetal anomalies v0.9 SLC39A8 Rebecca Foulger commented on gene: SLC39A8: DDG2P rating in original PAGE list: Confirmed for Intellectual Disability with Cerebellar Atrophy
Fetal anomalies v0.9 SLC39A13 Rebecca Foulger commented on gene: SLC39A13: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION and Confirmed for EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA.
Fetal anomalies v0.9 SLC37A4 Rebecca Foulger reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC35D1 Rebecca Foulger reviewed gene: SLC35D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC35C1 Rebecca Foulger reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC35A2 Rebecca Foulger reviewed gene: SLC35A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC35A1 Rebecca Foulger reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC33A1 Rebecca Foulger reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC2A2 Rebecca Foulger reviewed gene: SLC2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC2A10 Rebecca Foulger reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC2A1 Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC27A4 Rebecca Foulger reviewed gene: SLC27A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC26A3 Rebecca Foulger reviewed gene: SLC26A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC26A2 Rebecca Foulger commented on gene: SLC26A2: DDG2P rating in original PAGE list: Confirmed for ACHONDROGENESIS TYPE 1B, Confirmed for ATELOSTEOGENESIS TYPE 2, Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, and Confirmed for DIASTROPHIC DYSPLASIA.
Fetal anomalies v0.9 SLC25A4 Rebecca Foulger commented on gene: SLC25A4: DDG2P rating in original PAGE list: Probable for Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Fetal anomalies v0.9 SLC25A38 Rebecca Foulger reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC25A26 Rebecca Foulger reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC25A24 Rebecca Foulger commented on gene: SLC25A24: DDG2P rating in original PAGE list: Confirmed for Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v0.9 SLC25A22 Rebecca Foulger commented on gene: SLC25A22: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
Fetal anomalies v0.9 SLC25A20 Rebecca Foulger reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC25A19 Rebecca Foulger commented on gene: SLC25A19: DDG2P rating in original PAGE list: Probable for AMISH LETHAL MICROCEPHALY
Fetal anomalies v0.9 SLC25A15 Rebecca Foulger reviewed gene: SLC25A15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC24A4 Rebecca Foulger reviewed gene: SLC24A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC22A5 Rebecca Foulger reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC1A2 Rebecca Foulger commented on gene: SLC1A2: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 SLC19A3 Rebecca Foulger reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC17A5 Rebecca Foulger reviewed gene: SLC17A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC16A2 Rebecca Foulger reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC13A5 Rebecca Foulger reviewed gene: SLC13A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC12A6 Rebecca Foulger reviewed gene: SLC12A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SLC12A1 Rebecca Foulger reviewed gene: SLC12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SKIV2L Rebecca Foulger reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SKI Rebecca Foulger commented on gene: SKI: DDG2P rating in original PAGE list: Confirmed for SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.9 SIX5 Rebecca Foulger commented on gene: SIX5: DDG2P rating in original PAGE list: Confirmed for BRANCHIOOTORENAL SYNDROME TYPE 2
Fetal anomalies v0.9 SIX3 Rebecca Foulger reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SIX1 Rebecca Foulger commented on gene: SIX1: DDG2P rating in original PAGE list: Confirmed for BRANCHIOOTIC SYNDROME TYPE 3 and Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 23.
Fetal anomalies v0.9 SIN3A Rebecca Foulger reviewed gene: SIN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SIL1 Rebecca Foulger reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SIK1 Rebecca Foulger commented on gene: SIK1: DDG2P rating in original PAGE list: Confirmed for NEONATAL EPILEPSY SPECTRUM
Fetal anomalies v0.9 SHROOM3 Rebecca Foulger reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SHOX Rebecca Foulger reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SHOC2 Rebecca Foulger commented on gene: SHOC2: DDG2P rating in original PAGE list: Confirmed for NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Fetal anomalies v0.9 SHH Rebecca Foulger commented on gene: SHH: DDG2P rating in original PAGE list: Confirmed for TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, Confirmed for SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR and Confirmed for HOLOPROSENCEPHALY TYPE 3.
Fetal anomalies v0.9 SHANK3 Rebecca Foulger reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SHANK2 Rebecca Foulger reviewed gene: SHANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SHANK1 Rebecca Foulger reviewed gene: SHANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SH3PXD2B Rebecca Foulger reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SGSH Rebecca Foulger reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SGCA Rebecca Foulger reviewed gene: SGCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SF3B4 Rebecca Foulger reviewed gene: SF3B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SETD5 Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SETD2 Rebecca Foulger reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SETD1A Rebecca Foulger reviewed gene: SETD1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SETBP1 Rebecca Foulger commented on gene: SETBP1: DDG2P rating in original PAGE list: Confirmed for SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME and Confirmed for DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY.
Fetal anomalies v0.9 SET Rebecca Foulger reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SELENON Rebecca Foulger reviewed gene: SELENON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SECISBP2 Rebecca Foulger reviewed gene: SECISBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SEC24D Rebecca Foulger reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SEC23B Rebecca Foulger reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SDHAF1 Rebecca Foulger commented on gene: SDHAF1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX II DEFICIENCY
Fetal anomalies v0.9 SDHA Rebecca Foulger commented on gene: SDHA: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME
Fetal anomalies v0.9 SDCCAG8 Rebecca Foulger reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SCYL1 Rebecca Foulger reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SCO2 Rebecca Foulger reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SCO1 Rebecca Foulger reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SCN8A Rebecca Foulger commented on gene: SCN8A: DDG2P rating in original PAGE list: Confirmed for COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA and Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13.
Fetal anomalies v0.9 SCN4A Rebecca Foulger commented on gene: SCN4A: DDG2P rating in original PAGE list: Confirmed for HYPOKALEMIC PERIODIC PARALYSIS, Confirmed for HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 and Confirmed for PARAMYOTONIA CONGENITA OF VON EULENBURG.
Fetal anomalies v0.9 SCN3A Rebecca Foulger commented on gene: SCN3A: DDG2P rating in original PAGE list: Probable for Focal epilepsy
Fetal anomalies v0.9 SCN2A Rebecca Foulger commented on gene: SCN2A: DDG2P rating in original PAGE list: Confirmed for NONSPECIFIC SEVERE ID, Confirmed for BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES and Confirmed for INFANTILE EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.9 SCN1B Rebecca Foulger reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SCN1A Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SCN11A Rebecca Foulger commented on gene: SCN11A: DDG2P rating in original PAGE list: Confirmed for CONGENITAL INABILITY TO EXPERIENCE PAIN
Fetal anomalies v0.9 SCARF2 Rebecca Foulger reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SC5D Rebecca Foulger commented on gene: SC5D: DDG2P rating in original PAGE list: Confirmed for LATHOSTEROLOSIS
Fetal anomalies v0.9 SBDS Rebecca Foulger reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SATB2 Rebecca Foulger reviewed gene: SATB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SASS6 Rebecca Foulger commented on gene: SASS6: DDG2P rating in original PAGE list: Probable.
Fetal anomalies v0.9 SAMHD1 Rebecca Foulger reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SALL4 Rebecca Foulger reviewed gene: SALL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SALL1 Rebecca Foulger reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 SACS Rebecca Foulger reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RYR1 Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 TMEM5 Rebecca Foulger commented on gene: TMEM5: DDG2P rating in original PAGE list: Confirmed for SEVERE COBBLESTONE LISSENCEPHALY
Fetal anomalies v0.9 RUNX2 Rebecca Foulger reviewed gene: RUNX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RTTN Rebecca Foulger commented on gene: RTTN: DDG2P rating in original PAGE list: Confirmed for BILATERAL DIFFUSE POLYMICROGYRIA
Fetal anomalies v0.9 RTN4IP1 Rebecca Foulger reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RTEL1 Rebecca Foulger reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RSPRY1 Rebecca Foulger reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RSPO4 Rebecca Foulger reviewed gene: RSPO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RSPH9 Rebecca Foulger reviewed gene: RSPH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RSPH4A Rebecca Foulger reviewed gene: RSPH4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RSPH3 Rebecca Foulger reviewed gene: RSPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RSPH1 Rebecca Foulger reviewed gene: RSPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RRAS Rebecca Foulger commented on gene: RRAS: DDG2P rating in original PAGE list: Probable for ATYPICAL NOONAN SYNDROME
Fetal anomalies v0.9 RPS6KA3 Rebecca Foulger commented on gene: RPS6KA3: DDG2P rating in original PAGE list: Confirmed for COFFIN-LOWRY SYNDROME
Fetal anomalies v0.9 RPS26 Rebecca Foulger reviewed gene: RPS26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPS24 Rebecca Foulger reviewed gene: RPS24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPS23 Rebecca Foulger commented on gene: RPS23: DDG2P rating in original PAGE list: Probable for Microcephaly, hearing loss, and dysmorphic features
Fetal anomalies v0.9 RPS19 Rebecca Foulger reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPS17 Rebecca Foulger reviewed gene: RPS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPS10 Rebecca Foulger reviewed gene: RPS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPL5 Rebecca Foulger reviewed gene: RPL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPL35A Rebecca Foulger reviewed gene: RPL35A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPL11 Rebecca Foulger commented on gene: RPL11: DDG2P rating in original PAGE list: Confirmed for Diamond-Blackfan anemia with cleft palate and abnormal thumbs. Confirmed for Diamond-Blackfan anemia 7 612562 from Additional Gene list.
Fetal anomalies v0.9 RPGRIP1L Rebecca Foulger reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RPGRIP1 Rebecca Foulger commented on gene: RPGRIP1: DDG2P rating in original PAGE list: Confirmed for LEBER CONGENITAL AMAUROSIS 6 and Confirmed for CONE-ROD DYSTROPHY 13.
Fetal anomalies v0.9 RPE65 Rebecca Foulger reviewed gene: RPE65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RORA Rebecca Foulger reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ROR2 Rebecca Foulger reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ROGDI Rebecca Foulger reviewed gene: ROGDI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ROBO1 Rebecca Foulger reviewed gene: ROBO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RNU4ATAC Rebecca Foulger commented on gene: RNU4ATAC: DDG2P rating in original PAGE list: Confirmed for MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Fetal anomalies v0.9 RNASET2 Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RNASEH2C Rebecca Foulger reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RNASEH2B Rebecca Foulger reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RNASEH2A Rebecca Foulger reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RMRP Rebecca Foulger reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RMND1 Rebecca Foulger commented on gene: RMND1: DDG2P rating in original PAGE list: Probable for ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT
Fetal anomalies v0.9 RLIM Rebecca Foulger commented on gene: RLIM: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 RIT1 Rebecca Foulger commented on gene: RIT1: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME 8
Fetal anomalies v0.9 RIPK4 Rebecca Foulger reviewed gene: RIPK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RIN2 Rebecca Foulger reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RFX6 Rebecca Foulger reviewed gene: RFX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RFT1 Rebecca Foulger reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RETREG1 Rebecca Foulger reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RERE Rebecca Foulger reviewed gene: RERE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 REN Rebecca Foulger reviewed gene: REN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RELN Rebecca Foulger reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RECQL4 Rebecca Foulger reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RBPJ Rebecca Foulger commented on gene: RBPJ: DDG2P rating in original PAGE list: Probable for ADAMS OLIVER SYNDROME
Fetal anomalies v0.9 RBM8A Rebecca Foulger reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RBM10 Rebecca Foulger reviewed gene: RBM10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAX Rebecca Foulger reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RASA1 Rebecca Foulger reviewed gene: RASA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RARS2 Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RARB Rebecca Foulger commented on gene: RARB: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA and Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA.
Fetal anomalies v0.9 RAPSN Rebecca Foulger reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAI1 Rebecca Foulger reviewed gene: RAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAF1 Rebecca Foulger commented on gene: RAF1: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME 5
Fetal anomalies v0.9 RAD51C Rebecca Foulger commented on gene: RAD51C: DDG2P rating in original PAGE list: Probable for FANCONI ANEMIA, COMPLEMENTATION GROUP 0
Fetal anomalies v0.9 RAD51 Rebecca Foulger reviewed gene: RAD51: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAD21 Rebecca Foulger reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAC1 Rebecca Foulger commented on gene: RAC1: DDG2P rating in original PAGE list: Probable for Developmental Disorders with Diverse Phenotypes
Fetal anomalies v0.9 RAB3GAP2 Rebecca Foulger reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAB3GAP1 Rebecca Foulger reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAB39B Rebecca Foulger reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAB23 Rebecca Foulger reviewed gene: RAB23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAB18 Rebecca Foulger reviewed gene: RAB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 RAB11B Rebecca Foulger commented on gene: RAB11B: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 RAB11A Rebecca Foulger commented on gene: RAB11A: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 QRICH1 Rebecca Foulger reviewed gene: QRICH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 QDPR Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 QARS Rebecca Foulger commented on gene: QARS: DDG2P rating in original PAGE list: Probable for MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY
Fetal anomalies v0.9 PYROXD1 Rebecca Foulger reviewed gene: PYROXD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PYGL Rebecca Foulger reviewed gene: PYGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PYCR2 Rebecca Foulger commented on gene: PYCR2: DDG2P rating in original PAGE list: Probable for POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Fetal anomalies v0.9 PYCR1 Rebecca Foulger reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PXDN Rebecca Foulger reviewed gene: PXDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PURA Rebecca Foulger reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PUF60 Rebecca Foulger reviewed gene: PUF60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PTS Rebecca Foulger reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PTPN14 Rebecca Foulger reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PTPN11 Rebecca Foulger commented on gene: PTPN11: DDG2P rating in original PAGE list: Confirmed for LEOPARD SYNDROME TYPE 1 and Confirmed for NOONAN SYNDROME 1.
Fetal anomalies v0.9 PTHLH Rebecca Foulger commented on gene: PTHLH: DDG2P rating in original PAGE list: Confirmed for CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, and Confirmed for BRACHYDACTYLY, TYPE E2.
Fetal anomalies v0.9 PTH1R Rebecca Foulger commented on gene: PTH1R: DDG2P rating in original PAGE list: Confirmed for PRIMARY FAILURE OF TOOTH ERUPTION, Confirmed for JANSEN METAPHYSEAL CHONDRODYSPLASIA, Confirmed for EIKEN SKELETAL DYSPLASIA, and Confirmed for CHONDRODYSPLASIA BLOMSTRAND TYPE.
Fetal anomalies v0.9 PTH Rebecca Foulger reviewed gene: PTH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PTF1A Rebecca Foulger commented on gene: PTF1A: DDG2P rating in original PAGE list: Confirmed for DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS and Confirmed for PANCREATIC AGENESIS.
Fetal anomalies v0.9 PTEN Rebecca Foulger commented on gene: PTEN: DDG2P rating in original PAGE list: Confirmed for BANNAYAN-ZONANA SYNDROME, Confirmed for COWDEN DISEASE, Confirmed for VACTERL ASSOCIATION WITH HYDROCEPHALUS, Confirmed for LHERMITTE-DUCLOS DISEASE, Confirmed for PROTEUS SYNDROME and Confirmed for MACROCEPHALY/AUTISM SYNDROME.
Fetal anomalies v0.9 PTDSS1 Rebecca Foulger commented on gene: PTDSS1: DDG2P rating in original PAGE list: Confirmed for LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Fetal anomalies v0.9 PTCHD1 Rebecca Foulger reviewed gene: PTCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PTCH1 Rebecca Foulger commented on gene: PTCH1: DDG2P rating in original PAGE list: Confirmed for HOLOPROSENCEPHALY-7 and Confirmed for BASAL CELL NEVUS SYNDROME.
Fetal anomalies v0.9 PSPH Rebecca Foulger commented on gene: PSPH: DDG2P rating in original PAGE list: Confirmed for PHOSPHOSERINE PHOSPHATASE DEFICIENCY and Confirmed for NEU-LAXOVA.
Fetal anomalies v0.9 PSMB8 Rebecca Foulger commented on gene: PSMB8: DDG2P rating in original PAGE list: Confirmed for NAKAJO SYNDROME
Fetal anomalies v0.9 PSAT1 Rebecca Foulger reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PSAP Rebecca Foulger reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRX Rebecca Foulger reviewed gene: PRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRUNE1 Rebecca Foulger reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRSS56 Rebecca Foulger reviewed gene: PRSS56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRSS12 Rebecca Foulger reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRPS1 Rebecca Foulger commented on gene: PRPS1: DDG2P rating in original PAGE list: Confirmed for CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, Confirmed for DEAFNESS X-LINKED TYPE 1, Confirmed for PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY and Confirmed for ARTS SYNDROME.
Fetal anomalies v0.9 PROP1 Rebecca Foulger reviewed gene: PROP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PROKR2 Rebecca Foulger commented on gene: PROKR2: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 PROK2 Rebecca Foulger reviewed gene: PROK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRMT7 Rebecca Foulger reviewed gene: PRMT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRKD1 Rebecca Foulger commented on gene: PRKD1: DDG2P rating in original PAGE list: Confirmed for Syndromic congenital heart defects
Fetal anomalies v0.9 PRKAR1A Rebecca Foulger commented on gene: PRKAR1A: DDG2P rating in original PAGE list: Confirmed for ACRODYSOSTOSIS
Fetal anomalies v0.9 PRG4 Rebecca Foulger reviewed gene: PRG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PREPL Rebecca Foulger reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PRDM12 Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PQBP1 Rebecca Foulger reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PPT1 Rebecca Foulger reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PPP3CA Rebecca Foulger commented on gene: PPP3CA: DDG2P rating in original PAGE list: Probable for Severe Neurodevelopmental Disease with Seizures
Fetal anomalies v0.9 PPP2R5D Rebecca Foulger commented on gene: PPP2R5D: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 PPP2R1A Rebecca Foulger commented on gene: PPP2R1A: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 PPP1CB Rebecca Foulger commented on gene: PPP1CB: DDG2P rating in original PAGE list: Confirmed for Rasopathy with developmental delay, short stature and sparse slow-growing hair
Fetal anomalies v0.9 PPM1D Rebecca Foulger reviewed gene: PPM1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PPIB Rebecca Foulger reviewed gene: PPIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PPA2 Rebecca Foulger commented on gene: PPA2: DDG2P rating in original PAGE list: Confirmed for Sudden arrhythmic cardiac death after infectious or alcohol trigger
Fetal anomalies v0.9 POU1F1 Rebecca Foulger reviewed gene: POU1F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PORCN Rebecca Foulger reviewed gene: PORCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POR Rebecca Foulger reviewed gene: POR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POMT2 Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POMT1 Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POMK Rebecca Foulger reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POMGNT2 Rebecca Foulger reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POMGNT1 Rebecca Foulger commented on gene: POMGNT1: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3, Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3, and Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3.
Fetal anomalies v0.9 POLR3B Rebecca Foulger commented on gene: POLR3B: DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM and Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION.
Fetal anomalies v0.9 POLR3A Rebecca Foulger reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POLR1D Rebecca Foulger reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POLR1C Rebecca Foulger reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POLR1A Rebecca Foulger reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POLG Rebecca Foulger commented on gene: POLG: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL DNA DEPLETION SYNDROME 4A
Fetal anomalies v0.9 POGZ Rebecca Foulger reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POC1B Rebecca Foulger reviewed gene: POC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 POC1A Rebecca Foulger reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PNPT1 Rebecca Foulger commented on gene: PNPT1: DDG2P rating in original PAGE list: Confirmed for RESPIRATORY CHAIN DISORDER and Confirmed for HEARING LOSS.
Fetal anomalies v0.9 PNPLA1 Rebecca Foulger commented on gene: PNPLA1: DDG2P rating in original PAGE list: Probable for CONGENITAL ICHTHYOSIS
Fetal anomalies v0.9 PNKP Rebecca Foulger reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PMS2 Rebecca Foulger reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PMP22 Rebecca Foulger reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PMM2 Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PLPBP Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PLP1 Rebecca Foulger commented on gene: PLP1: DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY HYPOMYELINATING TYPE 1 and Confirmed for SPASTIC PARAPLEGIA X-LINKED TYPE 2.
Fetal anomalies v0.9 PLOD2 Rebecca Foulger reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PLOD1 Rebecca Foulger reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PLK4 Rebecca Foulger reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PLCE1 Rebecca Foulger reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PLCB4 Rebecca Foulger commented on gene: PLCB4: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.9 PLCB1 Rebecca Foulger reviewed gene: PLCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PLAA Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PKLR Rebecca Foulger reviewed gene: PKLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PKHD1 Rebecca Foulger reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PKD2 Rebecca Foulger reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PKD1L1 Rebecca Foulger reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PKD1 Rebecca Foulger reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PITX3 Rebecca Foulger commented on gene: PITX3: DDG2P rating in original PAGE list: Confirmed for CATARACT POSTERIOR POLAR TYPE 4, Confirmed for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS and Confirmed for CATARACT AUTOSOMAL DOMINANT.
Fetal anomalies v0.9 PITX2 Rebecca Foulger commented on gene: PITX2: DDG2P rating in original PAGE list: Confirmed for IRIDOGONIODYSGENESIS TYPE 2, Confirmed for RING DERMOID OF CORNEA, Confirmed for AXENFELD-RIEGER SYNDROME TYPE 1, Confirmed for PETERS ANOMALY,
Fetal anomalies v0.9 PITX1 Rebecca Foulger commented on gene: PITX1: DDG2P rating in original PAGE list: Probable for HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS and Probable for CONGENITAL CLUBFOOT.
Fetal anomalies v0.9 PIK3R2 Rebecca Foulger commented on gene: PIK3R2: DDG2P rating in original PAGE list: Confirmed for MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
Fetal anomalies v0.9 PIK3R1 Rebecca Foulger commented on gene: PIK3R1: DDG2P rating in original PAGE list: Confirmed for SHORT SYNDROME and Confirmed for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE.
Fetal anomalies v0.9 PIK3CA Rebecca Foulger commented on gene: PIK3CA: DDG2P rating in original PAGE list: Confirmed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, Confirmed for HEMIMEGALENCEPHALY PIK3CA and Confirmed for MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3.
Fetal anomalies v0.9 PIGY Rebecca Foulger commented on gene: PIGY: DDG2P rating in original PAGE list: Probable for Glycosylphosphatidylinositol deficiency
Fetal anomalies v0.9 PIGV Rebecca Foulger commented on gene: PIGV: DDG2P rating in original PAGE list: Confirmed for HYPERPHOSPHATASIA WITH MENTAL RETARDATION
Fetal anomalies v0.9 PIGT Rebecca Foulger commented on gene: PIGT: DDG2P rating in original PAGE list: Confirmed for MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
Fetal anomalies v0.9 PIGO Rebecca Foulger reviewed gene: PIGO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PIGN Rebecca Foulger commented on gene: PIGN: DDG2P rating in original PAGE list: Probable for MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME
Fetal anomalies v0.9 PIGL Rebecca Foulger reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PIGG Rebecca Foulger reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PIGA Rebecca Foulger reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PIEZO2 Rebecca Foulger reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PHOX2B Rebecca Foulger commented on gene: PHOX2B: DDG2P rating in original PAGE list: Confirmed for CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE and Confirmed for NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE.
Fetal anomalies v0.9 PHIP Rebecca Foulger reviewed gene: PHIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PHGDH Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PHF8 Rebecca Foulger reviewed gene: PHF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PHF6 Rebecca Foulger reviewed gene: PHF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PHF21A Rebecca Foulger reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PGM3 Rebecca Foulger reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PGM1 Rebecca Foulger reviewed gene: PGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PGK1 Rebecca Foulger reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PGAP3 Rebecca Foulger reviewed gene: PGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PGAP2 Rebecca Foulger commented on gene: PGAP2: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 PGAP1 Rebecca Foulger reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX6 Rebecca Foulger reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX5 Rebecca Foulger reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX3 Rebecca Foulger reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX26 Rebecca Foulger reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX2 Rebecca Foulger reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX19 Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX16 Rebecca Foulger reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX14 Rebecca Foulger reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX13 Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX12 Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX11B Rebecca Foulger reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX10 Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEX1 Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PET100 Rebecca Foulger reviewed gene: PET100: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PEPD Rebecca Foulger reviewed gene: PEPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PDSS2 Rebecca Foulger reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PDSS1 Rebecca Foulger commented on gene: PDSS1: DDG2P rating in original PAGE list: Probable for COENZYME Q10 DEFICIENCY, PRIMARY, 2
Fetal anomalies v0.9 PDHX Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PDHA1 Rebecca Foulger commented on gene: PDHA1: DDG2P rating in original PAGE list: Confirmed for X-LINKED LEIGH SYNDROME, Confirmed for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, and Confirmed for INTELLECTUAL DISABILTIY.
Fetal anomalies v0.9 PDGFRB Rebecca Foulger commented on gene: PDGFRB: DDG2P rating in original PAGE list: Confirmed for FAMILIAL INFANTILE MYOFIBROMATOSIS and Confirmed for PREMATURE AGING SYNDROME, PENTTINEN TYPE.
Fetal anomalies v0.9 PDE6H Rebecca Foulger commented on gene: PDE6H: DDG2P rating in original PAGE list: Probable for ACHROMATOPSIA and Probable for RETINAL CONE DYSTROPHY 3 PDE6H.
Fetal anomalies v0.9 PDE6G Rebecca Foulger reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PDE4D Rebecca Foulger commented on gene: PDE4D: DDG2P rating in original PAGE list: Confirmed for ACRODYSOSTOSIS
Fetal anomalies v0.9 PDE10A Rebecca Foulger commented on gene: PDE10A: DDG2P rating in original PAGE list: Probable for Childhood-Onset Chorea with Bilateral Striatal Lesions
Fetal anomalies v0.9 PCYT1A Rebecca Foulger reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCNT Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCGF2 Rebecca Foulger commented on gene: PCGF2: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DUSBILITY
Fetal anomalies v0.9 PCDH19 Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCCB Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCCA Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCBD1 Rebecca Foulger reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C2orf71 Rebecca Foulger commented on gene: C2orf71: DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA 54
Fetal anomalies v0.9 PC Rebecca Foulger reviewed gene: PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX9 Rebecca Foulger reviewed gene: PAX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX8 Rebecca Foulger reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX6 Rebecca Foulger commented on gene: PAX6: DDG2P rating in original PAGE list: Confirmed for KERATITIS HEREDITARY, Confirmed for COLOBOMA OF OPTIC NERVE, Confirmed for PETERS ANOMALY, Confirmed for FOVEAL HYPOPLASIA, Confirmed for BILATERAL OPTIC NERVE HYPOPLASIA, Confirmed for ANIRIDIA and Confirmed for ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY.
Fetal anomalies v0.9 PAX3 Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX2 Rebecca Foulger reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PARN Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAPSS2 Rebecca Foulger reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PALB2 Rebecca Foulger reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAK3 Rebecca Foulger commented on gene: PAK3: DDG2P rating in original PAGE list: Confirmed for AGENESIS OF THE CORPUS CALLOSUM and Confirmed for MENTAL RETARDATION X-LINKED TYPE 30.
Fetal anomalies v0.9 PAH Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAFAH1B1 Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PACS1 Rebecca Foulger commented on gene: PACS1: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 P4HB Rebecca Foulger commented on gene: P4HB: DDG2P rating in original PAGE list: Probable for COLE-CARPENTER SYNDROME
Fetal anomalies v0.9 P3H1 Rebecca Foulger reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OXCT1 Rebecca Foulger reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTX2 Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTULIN Rebecca Foulger reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTUD6B Rebecca Foulger reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTOGL Rebecca Foulger reviewed gene: OTOGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTC Rebecca Foulger reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OSTM1 Rebecca Foulger reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OSGEP Rebecca Foulger commented on gene: OSGEP: DDG2P rating in original PAGE list: Probable for Nephrotic syndrome with primary microcephaly
Fetal anomalies v0.9 ORC6 Rebecca Foulger reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ORC4 Rebecca Foulger reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ORC1 Rebecca Foulger reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OPHN1 Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OFD1 Rebecca Foulger commented on gene: OFD1: DDG2P rating in original PAGE list: Confirmed for ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, Confirmed for SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 and Confirmed for JOUBERT SYNDROME TYPE 10.
Fetal anomalies v0.9 C4orf26 Rebecca Foulger commented on gene: C4orf26: DDG2P rating in original PAGE list: Confirmed for AMYELOGENESIS
Fetal anomalies v0.9 OCRL Rebecca Foulger commented on gene: OCRL: DDG2P rating in original PAGE list: Confirmed for LOWE OCULOCEREBRORENAL SYNDROME and Confirmed for DENT DISEASE TYPE 2.
Fetal anomalies v0.9 OCLN Rebecca Foulger reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OBSL1 Rebecca Foulger reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NYX Rebecca Foulger reviewed gene: NYX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NUS1 Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NUP62 Rebecca Foulger commented on gene: NUP62: DDG2P rating in original PAGE list: Probable for INFANTILE STRIATONIGRAL DEGENERATION
Fetal anomalies v0.9 NUP107 Rebecca Foulger reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NUBPL Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NTRK2 Rebecca Foulger commented on gene: NTRK2: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 NTRK1 Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NT5C3A Rebecca Foulger reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NT5C2 Rebecca Foulger reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NSUN2 Rebecca Foulger commented on gene: NSUN2: DDG2P rating in original PAGE list: Probable for AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
Fetal anomalies v0.9 NSMF Rebecca Foulger commented on gene: NSMF: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 NSDHL Rebecca Foulger commented on gene: NSDHL: DDG2P rating in original PAGE list: Confirmed for CK SYNDROME and Confirmed for CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS.
Fetal anomalies v0.9 NSD1 Rebecca Foulger commented on gene: NSD1: DDG2P rating in original PAGE list: Confirmed for WEAVER SYNDROME, Confirmed for BECKWITH-WIEDEMANN SYNDROME, and Confirmed for SOTOS SYNDROME.
Fetal anomalies v0.9 NRXN2 Rebecca Foulger reviewed gene: NRXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NRAS Rebecca Foulger commented on gene: NRAS: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME TYPE 6
Fetal anomalies v0.9 NR2F2 Rebecca Foulger reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NR2F1 Rebecca Foulger reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NR0B1 Rebecca Foulger reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPR2 Rebecca Foulger reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHS2 Rebecca Foulger reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHS1 Rebecca Foulger reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHP4 Rebecca Foulger reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHP3 Rebecca Foulger reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHP1 Rebecca Foulger reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPC2 Rebecca Foulger reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPC1 Rebecca Foulger reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NOVA2 Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NOTCH2 Rebecca Foulger commented on gene: NOTCH2: DDG2P rating in original PAGE list: Confirmed for HAJDU-CHENEY SYNDROME
Fetal anomalies v0.9 NOTCH1 Rebecca Foulger reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NONO Rebecca Foulger reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NOG Rebecca Foulger commented on gene: NOG: DDG2P rating in original PAGE list: Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 1, Confirmed for TARSAL-CARPAL COALITION SYNDROME, and Confirmed for BRACHYDACTYLY TYPE B2.
Fetal anomalies v0.9 NODAL Rebecca Foulger reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NMNAT1 Rebecca Foulger reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NKX6-2 Rebecca Foulger reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NKX3-2 Rebecca Foulger reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NKX2-5 Rebecca Foulger commented on gene: NKX2-5: DDG2P rating in original PAGE list: Confirmed for ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, Confirmed for TETRALOGY OF FALLOT, and Confirmed for CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5.
Fetal anomalies v0.9 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NIPBL Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NHS Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NHP2 Rebecca Foulger commented on gene: NHP2: DDG2P rating in original PAGE list: Probable for DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.9 NHEJ1 Rebecca Foulger reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NGLY1 Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NFU1 Rebecca Foulger commented on gene: NFU1: DDG2P rating in original PAGE list: Confirmed for MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Fetal anomalies v0.9 NFIX Rebecca Foulger reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NF1 Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEXMIF Rebecca Foulger commented on gene: NEXMIF: DDG2P rating in original PAGE list: Probable for KIAA2022, and Probable for Intellectual disability and epilepsy.
Fetal anomalies v0.9 NEU1 Rebecca Foulger reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEK9 Rebecca Foulger reviewed gene: NEK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEK8 Rebecca Foulger commented on gene: NEK8: DDG2P rating in original PAGE list: Probable for NEPHRONOPHTHISIS 9 and Probable for RENAL-HEPATIC-PANCREATIC DYSPLASIA 2.
Fetal anomalies v0.9 NEK1 Rebecca Foulger commented on gene: NEK1: DDG2P rating in original PAGE list: Confirmed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
Fetal anomalies v0.9 NEDD4L Rebecca Foulger commented on gene: NEDD4L: DDG2P rating in original PAGE list: Probable for Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
Fetal anomalies v0.9 NECTIN4 Rebecca Foulger reviewed gene: NECTIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEB Rebecca Foulger reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFV1 Rebecca Foulger commented on gene: NDUFV1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.9 NDUFS8 Rebecca Foulger commented on gene: NDUFS8: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.9 NDUFS7 Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFS4 Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFS1 Rebecca Foulger commented on gene: NDUFS1: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME and Confirmed for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY.
Fetal anomalies v0.9 NDUFB11 Rebecca Foulger reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFAF2 Rebecca Foulger reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFA10 Rebecca Foulger commented on gene: NDUFA10: DDG2P rating in original PAGE list: Probable for LEIGH SYNDROME DUP
Fetal anomalies v0.9 NDUFA1 Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDP Rebecca Foulger reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDE1 Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NBN Rebecca Foulger reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NBAS Rebecca Foulger reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAXE Rebecca Foulger reviewed gene: NAXE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NANS Rebecca Foulger reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NALCN Rebecca Foulger commented on gene: NALCN: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, Confirmed for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, and Confirmed for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY.
Fetal anomalies v0.9 NAGS Rebecca Foulger reviewed gene: NAGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAGLU Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAGA Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NACC1 Rebecca Foulger commented on gene: NACC1: DDG2P rating in original PAGE list: Confirmed for Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Fetal anomalies v0.9 NAA15 Rebecca Foulger reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAA10 Rebecca Foulger commented on gene: NAA10: DDG2P rating in original PAGE list: Confirmed for NONPECIFIC SEVERE ID, OGDEN SYNDROME, Confirmed for X-linked anophthalmia syndrome, and Confirmed for X-linked anophthalmia syndrome/Lenz.
Fetal anomalies v0.9 MYT1L Rebecca Foulger reviewed gene: MYT1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYT1 Rebecca Foulger commented on gene: MYT1: DDG2P rating in original PAGE list: Probable.
Fetal anomalies v0.9 MYO5B Rebecca Foulger reviewed gene: MYO5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYO5A Rebecca Foulger reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYLK Rebecca Foulger reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYH9 Rebecca Foulger commented on gene: MYH9: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 17, Confirmed for SEBASTIAN SYNDROME, Confirmed for MAY-HEGGLIN ANOMALY, Confirmed for EPSTEIN SYNDROME, Confirmed for FECHTNER SYNDROME, and Confirmed for MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS.
Fetal anomalies v0.9 MYH3 Rebecca Foulger commented on gene: MYH3: DDG2P rating in original PAGE list: Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B and Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A.
Fetal anomalies v0.9 MYCN Rebecca Foulger reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYBPC1 Rebecca Foulger reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MUT Rebecca Foulger reviewed gene: MUT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MUSK Rebecca Foulger reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MT-TP Rebecca Foulger reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTRR Rebecca Foulger reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTR Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTOR Rebecca Foulger commented on gene: MTOR: DDG2P rating in original PAGE list: Confirmed for Smith-Kingsmore syndrome
Fetal anomalies v0.9 MTO1 Rebecca Foulger reviewed gene: MTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTM1 Rebecca Foulger reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTHFR Rebecca Foulger reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSX2 Rebecca Foulger commented on gene: MSX2: DDG2P rating in original PAGE list: Confirmed for ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM and Confirmed for CRANIOSYNOSTOSIS, TYPE 2.
Fetal anomalies v0.9 MSX1 Rebecca Foulger reviewed gene: MSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSL3 Rebecca Foulger reviewed gene: MSL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSH6 Rebecca Foulger reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSH2 Rebecca Foulger reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MRPS34 Rebecca Foulger reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MRPS22 Rebecca Foulger commented on gene: MRPS22: DDG2P rating in original PAGE list: Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
Fetal anomalies v0.9 MRE11 Rebecca Foulger reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPZ Rebecca Foulger reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPV17 Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPLKIP Rebecca Foulger reviewed gene: MPLKIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPI Rebecca Foulger reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPDU1 Rebecca Foulger reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MOGS Rebecca Foulger commented on gene: MOGS: DDG2P rating in original PAGE list: Probable for CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.9 MOCS2 Rebecca Foulger reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MOCS1 Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MNX1 Rebecca Foulger reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMP21 Rebecca Foulger reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMP13 Rebecca Foulger commented on gene: MMP13: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE and Confirmed for METAPHYSEAL ANADYSPLASIA TYPE 1.
Fetal anomalies v0.9 MMADHC Rebecca Foulger reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMACHC Rebecca Foulger reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMAB Rebecca Foulger reviewed gene: MMAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMAA Rebecca Foulger reviewed gene: MMAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MLYCD Rebecca Foulger reviewed gene: MLYCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MLH1 Rebecca Foulger reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MLC1 Rebecca Foulger reviewed gene: MLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MKS1 Rebecca Foulger reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MKKS Rebecca Foulger reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MIR17HG Rebecca Foulger reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MID1 Rebecca Foulger reviewed gene: MID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MICU1 Rebecca Foulger reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MGP Rebecca Foulger reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MGAT2 Rebecca Foulger reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MFSD8 Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MFSD2A Rebecca Foulger commented on gene: MFSD2A: DDG2P rating in original PAGE list: Confirmed for MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.9 MFRP Rebecca Foulger reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MESP2 Rebecca Foulger reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEOX1 Rebecca Foulger reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEGF8 Rebecca Foulger reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEGF10 Rebecca Foulger reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEF2C Rebecca Foulger reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MED17 Rebecca Foulger commented on gene: MED17: DDG2P rating in original PAGE list: Probable for MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Fetal anomalies v0.9 MED13L Rebecca Foulger reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MED12 Rebecca Foulger commented on gene: MED12: DDG2P rating in original PAGE list: Confirmed for OPITZ-KAVEGGIA SYNDROME and Confirmed for LUJAN-FRYNS SYNDROME,
Fetal anomalies v0.9 MECR Rebecca Foulger reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MECP2 Rebecca Foulger commented on gene: MECP2: DDG2P rating in original PAGE list: Confirmed for RETT SYNDROME (RTT)[, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, Confirmed for CHROMOSOME XQ28 DUPLICATION SYNDROME, and Confirmed for ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS.
Fetal anomalies v0.9 MECOM Rebecca Foulger commented on gene: MECOM: DDG2P rating in original PAGE list: Probable for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Fetal anomalies v0.9 MDH2 Rebecca Foulger reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCPH1 Rebecca Foulger reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCOLN1 Rebecca Foulger reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCEE Rebecca Foulger reviewed gene: MCEE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCCC2 Rebecca Foulger reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCCC1 Rebecca Foulger reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MC2R Rebecca Foulger reviewed gene: MC2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MBTPS2 Rebecca Foulger reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MBOAT7 Rebecca Foulger reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MATN3 Rebecca Foulger commented on gene: MATN3: DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Fetal anomalies v0.9 MAT1A Rebecca Foulger reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MASP1 Rebecca Foulger reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAPRE2 Rebecca Foulger commented on gene: MAPRE2: DDG2P rating in original PAGE list: Confirmed for Circumferential Skin Creases Kunze Type
Fetal anomalies v0.9 MAP3K7 Rebecca Foulger commented on gene: MAP3K7: DDG2P rating in original PAGE list: Probable for Cardiospondylocarpofacial syndrome and Probable for FRONTOMETAPHYSEAL DYSPLASIA.
Fetal anomalies v0.9 MAP3K1 Rebecca Foulger reviewed gene: MAP3K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAP2K2 Rebecca Foulger commented on gene: MAP2K2: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.9 MAP2K1 Rebecca Foulger commented on gene: MAP2K1: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.9 MAOA Rebecca Foulger commented on gene: MAOA: DDG2P rating in original PAGE list: Probable for BRUNNER SYNDROME
Fetal anomalies v0.9 MANBA Rebecca Foulger reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAN2B1 Rebecca Foulger reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAN1B1 Rebecca Foulger commented on gene: MAN1B1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.9 MAMLD1 Rebecca Foulger reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAF Rebecca Foulger commented on gene: MAF: DDG2P rating in original PAGE list: Confirmed for CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, Confirmed for CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED and Confirmed for CATARACT CONGENITAL CERULEAN TYPE 4.
Fetal anomalies v0.9 MAB21L2 Rebecca Foulger commented on gene: MAB21L2: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA, SYNDROMIC 14
Fetal anomalies v0.9 LZTFL1 Rebecca Foulger reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LYST Rebecca Foulger reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LTBP4 Rebecca Foulger reviewed gene: LTBP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LTBP3 Rebecca Foulger reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LTBP2 Rebecca Foulger reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRRC6 Rebecca Foulger reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRPPRC Rebecca Foulger reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRP5 Rebecca Foulger commented on gene: LRP5: DDG2P rating in original PAGE list: Confirmed for HIGH BONE MASS TRAIT, Confirmed for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, Confirmed for ENDOSTEAL HYPEROSTOSIS WORTH TYPE, Confirmed for VITREORETINOPATHY EXUDATIVE TYPE 4 and Confirmed for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME.
Fetal anomalies v0.9 LRP4 Rebecca Foulger reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRP2 Rebecca Foulger reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRIT3 Rebecca Foulger reviewed gene: LRIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRIG2 Rebecca Foulger reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRBA Rebecca Foulger reviewed gene: LRBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRAT Rebecca Foulger reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LONP1 Rebecca Foulger commented on gene: LONP1: DDG2P rating in original PAGE list: Probable for CODAS SYNDROME
Fetal anomalies v0.9 LMX1B Rebecca Foulger reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LMOD3 Rebecca Foulger reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LMBRD1 Rebecca Foulger reviewed gene: LMBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LMBR1 Rebecca Foulger reviewed gene: LMBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIPT2 Rebecca Foulger commented on gene: LIPT2: DDG2P rating in original PAGE list: Probable for Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Fetal anomalies v0.9 LIPT1 Rebecca Foulger commented on gene: LIPT1: DDG2P rating in original PAGE list: Probable for Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Fetal anomalies v0.9 LIPN Rebecca Foulger reviewed gene: LIPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LINS1 Rebecca Foulger reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIG4 Rebecca Foulger reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIFR Rebecca Foulger reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIAS Rebecca Foulger commented on gene: LIAS: DDG2P rating in original PAGE list: Probable for Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Fetal anomalies v0.9 LHX4 Rebecca Foulger reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LHX3 Rebecca Foulger reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LGI4 Rebecca Foulger reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LFNG Rebecca Foulger commented on gene: LFNG: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCOSTAL DYSOSTOSIS TYPE 3
Fetal anomalies v0.9 LEMD3 Rebecca Foulger reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LBR Rebecca Foulger reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LARS2 Rebecca Foulger commented on gene: LARS2: DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME
Fetal anomalies v0.9 LARP7 Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LARGE1 Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMP2 Rebecca Foulger reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMC3 Rebecca Foulger reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMC2 Rebecca Foulger reviewed gene: LAMC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMB3 Rebecca Foulger reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMB1 Rebecca Foulger reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMA3 Rebecca Foulger reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMA2 Rebecca Foulger reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMA1 Rebecca Foulger reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 L2HGDH Rebecca Foulger reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 L1CAM Rebecca Foulger reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KYNU Rebecca Foulger reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KRT74 Rebecca Foulger commented on gene: KRT74: DDG2P rating in original PAGE list: Probable for HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
Fetal anomalies v0.9 KRAS Rebecca Foulger commented on gene: KRAS: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME and Confirmed for NOONAN SYNDROME TYPE 3.
Fetal anomalies v0.9 KPTN Rebecca Foulger reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT5B Rebecca Foulger reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT2D Rebecca Foulger reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT2B Rebecca Foulger reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT2A Rebecca Foulger reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KLHL7 Rebecca Foulger commented on gene: KLHL7: DDG2P rating in original PAGE list: Probable for Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Fetal anomalies v0.9 KLHL41 Rebecca Foulger reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KLHL40 Rebecca Foulger reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KLF1 Rebecca Foulger commented on gene: KLF1: DDG2P rating in original PAGE list: Confirmed for ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
Fetal anomalies v0.9 KISS1R Rebecca Foulger reviewed gene: KISS1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIF7 Rebecca Foulger commented on gene: KIF7: DDG2P rating in original PAGE list: Confirmed for ACROCALLOSAL SYNDROME and Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION.
Fetal anomalies v0.9 KIF5C Rebecca Foulger commented on gene: KIF5C: DDG2P rating in original PAGE list: Probable for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
Fetal anomalies v0.9 KIF2A Rebecca Foulger commented on gene: KIF2A: DDG2P rating in original PAGE list: Probable for MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.
Fetal anomalies v0.9 KIF22 Rebecca Foulger commented on gene: KIF22: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Fetal anomalies v0.9 KIF1BP Rebecca Foulger reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIF1A Rebecca Foulger commented on gene: KIF1A: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, and Confirmed for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC.
Fetal anomalies v0.9 KIF11 Rebecca Foulger reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIDINS220 Rebecca Foulger reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIAA1109 Rebecca Foulger commented on gene: KIAA1109: DDG2P rating in original PAGE list: Probable for Brain atrophy, Dandy Walker and Contractures
Fetal anomalies v0.9 KIAA0586 Rebecca Foulger reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KDM6A Rebecca Foulger reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KDM5C Rebecca Foulger reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KDM1A Rebecca Foulger commented on gene: KDM1A: DDG2P rating in original PAGE list: Probable for Developmental delay and distinctive facial features
Fetal anomalies v0.9 KCTD7 Rebecca Foulger commented on gene: KCTD7: DDG2P rating in original PAGE list: Confirmed for NEURONAL CEROID LIPOFUSCINOSIS and Confirmed for PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3.
Fetal anomalies v0.9 KCTD1 Rebecca Foulger commented on gene: KCTD1: DDG2P rating in original PAGE list: Confirmed for SCALP-EAR-NIPPLE SYNDROME
Fetal anomalies v0.9 KCNT1 Rebecca Foulger commented on gene: KCNT1: DDG2P rating in original PAGE list: Confirmed for MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY and Confirmed for SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY.
Fetal anomalies v0.9 KCNQ5 Rebecca Foulger commented on gene: KCNQ5: DDG2P rating in original PAGE list: Probable for Intellectual Disability with or without Epileptic Encephalopathy
Fetal anomalies v0.9 KCNQ3 Rebecca Foulger commented on gene: KCNQ3: DDG2P rating in original PAGE list: Confirmed for KCNQ3 syndrome
Fetal anomalies v0.9 KCNQ2 Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNQ1 Rebecca Foulger reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNJ6 Rebecca Foulger commented on gene: KCNJ6: DDG2P rating in original PAGE list: Probable for KEPPEN-LUBINSKY SYNDROME
Fetal anomalies v0.9 KCNJ2 Rebecca Foulger reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNJ11 Rebecca Foulger commented on gene: KCNJ11: DDG2P rating in original PAGE list: Confirmed for FAMILIAL HYPERINSULINISM, DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL, and Confirmed for DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL.
Fetal anomalies v0.9 KCNJ10 Rebecca Foulger reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNJ1 Rebecca Foulger reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNH1 Rebecca Foulger commented on gene: KCNH1: DDG2P rating in original PAGE list: Probable for TEMPLE BARRAISTER SYNDROME
Fetal anomalies v0.9 KCNC3 Rebecca Foulger commented on gene: KCNC3: DDG2P rating in original PAGE list: Probable for SPINOCEREBELLAR ATAXIA TYPE 13
Fetal anomalies v0.9 KCNC1 Rebecca Foulger commented on gene: KCNC1: DDG2P rating in original PAGE list: Confirmed for EPILEPSY, PROGRESSIVE MYOCLONIC 7
Fetal anomalies v0.9 KCNB1 Rebecca Foulger commented on gene: KCNB1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
Fetal anomalies v0.9 KCNA2 Rebecca Foulger commented on gene: KCNA2: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.9 KBTBD13 Rebecca Foulger commented on gene: KBTBD13: DDG2P rating in original PAGE list: Confirmed for NEMALINE MYOPATHY 6
Fetal anomalies v0.9 KAT6B Rebecca Foulger commented on gene: KAT6B: DDG2P rating in original PAGE list: Confirmed for BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE and Confirmed for GENITOPATELLAR SYNDROME.
Fetal anomalies v0.9 KAT6A Rebecca Foulger reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KANSL1 Rebecca Foulger reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAM3 Rebecca Foulger reviewed gene: JAM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAK3 Rebecca Foulger reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAGN1 Rebecca Foulger reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAG1 Rebecca Foulger reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IVD Rebecca Foulger reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGB4 Rebecca Foulger reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA8 Rebecca Foulger reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA7 Rebecca Foulger reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA6 Rebecca Foulger reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA3 Rebecca Foulger reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITCH Rebecca Foulger reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ISPD Rebecca Foulger reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IRX5 Rebecca Foulger commented on gene: IRX5: DDG2P rating in original PAGE list: Probable for HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Fetal anomalies v0.9 IRF6 Rebecca Foulger commented on gene: IRF6: DDG2P rating in original PAGE list: Confirmed for VAN DER WOUDE SYNDROME and Confirmed for POPLITEAL PTERYGIUM SYNDROME.
Fetal anomalies v0.9 IQSEC2 Rebecca Foulger commented on gene: IQSEC2: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED TYPE 1
Fetal anomalies v0.9 IQCB1 Rebecca Foulger reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INVS Rebecca Foulger reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INSR Rebecca Foulger reviewed gene: INSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INPPL1 Rebecca Foulger reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INPP5K Rebecca Foulger commented on gene: INPP5K: DDG2P rating in original PAGE list: Probable for Muscular dystrophy, congenital, with cataracts and intellectual disability
Fetal anomalies v0.9 INPP5E Rebecca Foulger commented on gene: INPP5E: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS and Confirmed for JOUBERT SYNDROME TYPE 1.
Fetal anomalies v0.9 IMPAD1 Rebecca Foulger reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IL1RAPL1 Rebecca Foulger reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IL17RD Rebecca Foulger commented on gene: IL17RD: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 IKBKG Rebecca Foulger commented on gene: IKBKG: DDG2P rating in original PAGE list: Confirmed for IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA, Confirmed for INCONTINENTIA PIGMENTI, Confirmed for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA, Confirmed for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED and Confirmed for SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1.
Fetal anomalies v0.9 IHH Rebecca Foulger commented on gene: IHH: DDG2P rating in original PAGE list: Confirmed for BRACHYDACTYLY, TYPE A1 and Confirmed for ACROCAPITOFEMORAL DYSPLASIA.
Fetal anomalies v0.9 IGSF1 Rebecca Foulger reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGHMBP2 Rebecca Foulger reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGFBP7 Rebecca Foulger reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGF2 Rebecca Foulger commented on gene: IGF2: DDG2P rating in original PAGE list: Confirmed for CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME and Confirmed for BECKWITH-WIEDEMANN SYNDROME.
Fetal anomalies v0.9 IGF1R Rebecca Foulger reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGF1 Rebecca Foulger reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IFT80 Rebecca Foulger commented on gene: IFT80: DDG2P rating in original PAGE list: Confirmed for ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.9 IFT43 Rebecca Foulger commented on gene: IFT43: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA TYPE 3
Fetal anomalies v0.9 IFT172 Rebecca Foulger reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IFT140 Rebecca Foulger reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IFT122 Rebecca Foulger commented on gene: IFT122: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA
Fetal anomalies v0.9 IFITM5 Rebecca Foulger commented on gene: IFITM5: DDG2P rating in original PAGE list: Confirmed for OSTEOGENESIS IMPERFECTA TYPE V
Fetal anomalies v0.9 IER3IP1 Rebecca Foulger reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IDUA Rebecca Foulger reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IDS Rebecca Foulger reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IARS Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HYLS1 Rebecca Foulger commented on gene: HYLS1: DDG2P rating in original PAGE list: Confirmed for HYDROLETHALUS SYNDROME TYPE 1
Fetal anomalies v0.9 HYDIN Rebecca Foulger reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HYAL1 Rebecca Foulger reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HUWE1 Rebecca Foulger commented on gene: HUWE1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Fetal anomalies v0.9 HSPG2 Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSF4 Rebecca Foulger commented on gene: HSF4: DDG2P rating in original PAGE list: Confirmed for CATARACT MARNER TYPE and Confirmed for CATARACT ZONULAR HSF4-RELATED.
Fetal anomalies v0.9 HSD3B7 Rebecca Foulger reviewed gene: HSD3B7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSD17B4 Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSD17B3 Rebecca Foulger reviewed gene: HSD17B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSD17B10 Rebecca Foulger commented on gene: HSD17B10: DDG2P rating in original PAGE list: Confirmed for 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY and Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10.
Fetal anomalies v0.9 HRAS Rebecca Foulger commented on gene: HRAS: DDG2P rating in original PAGE list: Confirmed for COSTELLO SYNDROME and Confirmed for CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES.
Fetal anomalies v0.9 HR Rebecca Foulger commented on gene: HR: DDG2P rating in original PAGE list: Confirmed for ALOPECIA UNIVERSALIS and Confirmed for ATRICHIA WITH PAPULAR LESIONS.
Fetal anomalies v0.9 HPSE2 Rebecca Foulger reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPS1 Rebecca Foulger reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPRT1 Rebecca Foulger reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPGD Rebecca Foulger reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPD Rebecca Foulger commented on gene: HPD: DDG2P rating in original PAGE list: Probable for HAWKINSINURIA and Probable for TYROSINEMIA TYPE 3.
Fetal anomalies v0.9 HOXD13 Rebecca Foulger commented on gene: HOXD13: DDG2P rating in original PAGE list: Confirmed for VACTERL ASSOCIATION, Confirmed for SYNPOLYDACTYLY 1, Confirmed for SYNDACTYLY TYPE 5, Confirmed for BRACHYDACTYLY TYPE E, Confirmed for BRACHYDACTYLY-SYNDACTYLY SYNDROME, and Confirmed for BRACHYDACTYLY TYPE D.
Fetal anomalies v0.9 HOXC13 Rebecca Foulger reviewed gene: HOXC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HOXB1 Rebecca Foulger commented on gene: HOXB1: DDG2P rating in original PAGE list: Probable for FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Fetal anomalies v0.9 HOXA13 Rebecca Foulger reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HOXA1 Rebecca Foulger reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HNRNPU Rebecca Foulger reviewed gene: HNRNPU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HNRNPH2 Rebecca Foulger commented on gene: HNRNPH2: DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder in Females
Fetal anomalies v0.9 HNF4A Rebecca Foulger commented on gene: HNF4A: DDG2P rating in original PAGE list: Confirmed for HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 and Confirmed for ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY.
Fetal anomalies v0.9 HNF1B Rebecca Foulger reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HMX1 Rebecca Foulger reviewed gene: HMX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HMGCS2 Rebecca Foulger commented on gene: HMGCS2: DDG2P rating in original PAGE list: Confirmed for 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
Fetal anomalies v0.9 HMGCL Rebecca Foulger reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HLCS Rebecca Foulger reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HIVEP2 Rebecca Foulger reviewed gene: HIVEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HIST1H4C Rebecca Foulger commented on gene: HIST1H4C: DDG2P rating in original PAGE list: Probable for HIST1H4C
Fetal anomalies v0.9 HIST1H1E Rebecca Foulger reviewed gene: HIST1H1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HINT1 Rebecca Foulger reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HIBCH Rebecca Foulger reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HGSNAT Rebecca Foulger reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HEXB Rebecca Foulger reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HEXA Rebecca Foulger reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HESX1 Rebecca Foulger reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HES7 Rebecca Foulger reviewed gene: HES7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HECW2 Rebecca Foulger commented on gene: HECW2: DDG2P rating in original PAGE list: Confirmed for HECW2
Fetal anomalies v0.9 HDAC8 Rebecca Foulger commented on gene: HDAC8: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE-LIKE SYNDROME and Confirmed for WILSON-TURNER SYNDROME.
Fetal anomalies v0.9 HDAC4 Rebecca Foulger reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HCN1 Rebecca Foulger commented on gene: HCN1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
Fetal anomalies v0.9 HCFC1 Rebecca Foulger commented on gene: HCFC1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, X-LINKED 3 and Confirmed for COBALAMIN DISORDER.
Fetal anomalies v0.9 HCCS Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HAX1 Rebecca Foulger reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HADHA Rebecca Foulger reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HADH Rebecca Foulger reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HACE1 Rebecca Foulger reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HAAO Rebecca Foulger reviewed gene: HAAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 H3F3A Rebecca Foulger commented on gene: H3F3A: DDG2P rating in original PAGE list: Probable for Craniofacial with neurodevelopment disorders
Fetal anomalies v0.9 H19 Rebecca Foulger commented on gene: H19: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 GZF1 Rebecca Foulger reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GUSB Rebecca Foulger reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GUCY2C Rebecca Foulger commented on gene: GUCY2C: DDG2P rating in original PAGE list: Confirmed for MECONIUM ILEUS and Confirmed for FAMILIAL DIARRHEA DIARRHEA 6.
Fetal anomalies v0.9 GTPBP3 Rebecca Foulger reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GTF2H5 Rebecca Foulger reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GTF2E2 Rebecca Foulger commented on gene: GTF2E2: DDG2P rating in original PAGE list: Probable for DNA Repair-Proficient Trichothiodystrophy
Fetal anomalies v0.9 GSPT2 Rebecca Foulger reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRM6 Rebecca Foulger reviewed gene: GRM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRM1 Rebecca Foulger reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIP1 Rebecca Foulger reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIN2D Rebecca Foulger commented on gene: GRIN2D: DDG2P rating in original PAGE list: Probable for Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Fetal anomalies v0.9 GRIN2B Rebecca Foulger commented on gene: GRIN2B: DDG2P rating in original PAGE list: Confirmed for AUTISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, and Confirmed for EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.9 GRIN2A Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIN1 Rebecca Foulger commented on gene: GRIN1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 GRIK2 Rebecca Foulger reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIA3 Rebecca Foulger reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRHL3 Rebecca Foulger reviewed gene: GRHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRHL2 Rebecca Foulger commented on gene: GRHL2: DDG2P rating in original PAGE list: Probable for ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Fetal anomalies v0.9 GPX4 Rebecca Foulger reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPSM2 Rebecca Foulger reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPKOW Rebecca Foulger reviewed gene: GPKOW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPI Rebecca Foulger commented on gene: GPI: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 GPC6 Rebecca Foulger reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPC3 Rebecca Foulger reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPAA1 Rebecca Foulger reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GORAB Rebecca Foulger reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNS Rebecca Foulger reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNPTG Rebecca Foulger reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNPTAB Rebecca Foulger reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNPAT Rebecca Foulger reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNB5 Rebecca Foulger reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNB1 Rebecca Foulger commented on gene: GNB1: DDG2P rating in original PAGE list: Confirmed for Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Fetal anomalies v0.9 GNAS Rebecca Foulger commented on gene: GNAS: DDG2P rating in original PAGE list: Confirmed for PSEUDOHYPOPARATHYROIDISM TYPE 1B, Confirmed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, Confirmed for ALBRIGHT HEREDITARY OSTEODYSTROPHY and Confirmed for GNAS HYPERFUNCTION.
Fetal anomalies v0.9 GNAQ Rebecca Foulger commented on gene: GNAQ: DDG2P rating in original PAGE list: Probable for Congenital Hemangioma
Fetal anomalies v0.9 GNAO1 Rebecca Foulger reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNAI3 Rebecca Foulger commented on gene: GNAI3: DDG2P rating in original PAGE list: Confirmed for AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.9 GNAI1 Rebecca Foulger reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNA14 Rebecca Foulger commented on gene: GNA14: DDG2P rating in original PAGE list: Probable for Congenital vascular tumours
Fetal anomalies v0.9 GNA11 Rebecca Foulger commented on gene: GNA11: DDG2P rating in original PAGE list: Probable for Congenital Hemangioma
Fetal anomalies v0.9 GMPPB Rebecca Foulger commented on gene: GMPPB: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Fetal anomalies v0.9 GMPPA Rebecca Foulger reviewed gene: GMPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GMNN Rebecca Foulger commented on gene: GMNN: DDG2P rating in original PAGE list: Probable for Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Fetal anomalies v0.9 GM2A Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLUL Rebecca Foulger commented on gene: GLUL: DDG2P rating in original PAGE list: Confirmed for CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Fetal anomalies v0.9 GLUD1 Rebecca Foulger commented on gene: GLUD1: DDG2P rating in original PAGE list: Confirmed for HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Fetal anomalies v0.9 GLMN Rebecca Foulger reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLIS3 Rebecca Foulger reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLIS2 Rebecca Foulger reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLI3 Rebecca Foulger reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLI2 Rebecca Foulger reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLE1 Rebecca Foulger commented on gene: GLE1: DDG2P rating in original PAGE list: Confirmed for ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Fetal anomalies v0.9 GLDN Rebecca Foulger reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLDC Rebecca Foulger reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLB1 Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GK Rebecca Foulger reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GJC2 Rebecca Foulger commented on gene: GJC2: DDG2P rating in original PAGE list: Confirmed for LYMPHEDEMA, HEREDITARY, IC, Confirmed for SPASTIC PARAPLEGIA, 44 and Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 2.
Fetal anomalies v0.9 GJB2 Rebecca Foulger commented on gene: GJB2: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A, Confirmed for PALMOPLANTAR KERATODERMA WITH DEAFNESS, Confirmed for ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME, Confirmed for VOHWINKEL SYNDROME and Confirmed for BART-PUMPHREY SYNDROME.
Fetal anomalies v0.9 GJA8 Rebecca Foulger commented on gene: GJA8: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT TYPE 1 and Confirmed for CATARACT-MICROCORNEA SYNDROME.
Fetal anomalies v0.9 GJA3 Rebecca Foulger commented on gene: GJA3: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Fetal anomalies v0.9 GJA1 Rebecca Foulger commented on gene: GJA1: DDG2P rating in original PAGE list: Confirmed for HALLERMANN-STREIFF SYNDROME, Confirmed for HYPOPLASTIC LEFT HEART SYNDROME, Confirmed for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, and Confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA.
Fetal anomalies v0.9 GHR Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GFM1 Rebecca Foulger reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GFAP Rebecca Foulger commented on gene: GFAP: DDG2P rating in original PAGE list: Confirmed for ALEXANDER DISEASE
Fetal anomalies v0.9 GDI1 Rebecca Foulger reviewed gene: GDI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GDF6 Rebecca Foulger commented on gene: GDF6: DDG2P rating in original PAGE list: Confirmed for KLIPPEL-FEIL SYNDROME TYPE 1 and Confirmed for MICROPHTHALMIA ISOLATED TYPE 4.
Fetal anomalies v0.9 GDF5 Rebecca Foulger commented on gene: GDF5: DDG2P rating in original PAGE list: Confirmed for ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, Confirmed for BRACHYDACTYLY TYPE C, Confirmed for DU PAN SYNDROME, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 2, Confirmed for BRACHYDACTYLY TYPE A1, Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE and Confirmed for BRACHYDACTYLY TYPE A2.
Fetal anomalies v0.9 GCH1 Rebecca Foulger commented on gene: GCH1: DDG2P rating in original PAGE list: Confirmed for GTP CYCLOHYDROLASE 1 DEFICIENCY and Confirmed for DYSTONIA TYPE 5.
Fetal anomalies v0.9 GCDH Rebecca Foulger commented on gene: GCDH: DDG2P rating in original PAGE list: Confirmed for GLUTARICACIDEMIA TYPE 1
Fetal anomalies v0.9 GBE1 Rebecca Foulger reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GBA2 Rebecca Foulger reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATM Rebecca Foulger reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATAD2B Rebecca Foulger reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATA6 Rebecca Foulger commented on gene: GATA6: DDG2P rating in original PAGE list: Confirmed for ATRIOVENTRICULAR SEPTAL DEFECT 5, ATRIAL SEPTAL DEFECT 9, and Confirmed for PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS.
Fetal anomalies v0.9 GATA4 Rebecca Foulger reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATA2 Rebecca Foulger reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GAS8 Rebecca Foulger reviewed gene: GAS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GAMT Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALT Rebecca Foulger reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALNS Rebecca Foulger reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALK1 Rebecca Foulger reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALE Rebecca Foulger reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALC Rebecca Foulger reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GABRG2 Rebecca Foulger reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GABRB3 Rebecca Foulger commented on gene: GABRB3: DDG2P rating in original PAGE list: Confirmed for CHILDHOOD ABSENCE EPILEPSY TYPE 5 and Confirmed for EPILEPTIC ENCEPHALOPATHIES.
Fetal anomalies v0.9 GABRB2 Rebecca Foulger commented on gene: GABRB2: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 GABRA1 Rebecca Foulger commented on gene: GABRA1: DDG2P rating in original PAGE list: Probable for JUVENILE MYOCLONIC EPILEPSY and Probable for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 GAA Rebecca Foulger reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 G6PC3 Rebecca Foulger reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FZD6 Rebecca Foulger reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FZD5 Rebecca Foulger commented on gene: FZD5: DDG2P rating in original PAGE list: Probable for Autosomal Dominant Coloboma
Fetal anomalies v0.9 FYCO1 Rebecca Foulger reviewed gene: FYCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FUZ Rebecca Foulger commented on gene: FUZ: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 FUCA1 Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FTSJ1 Rebecca Foulger reviewed gene: FTSJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FTL Rebecca Foulger reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FTCD Rebecca Foulger reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRRS1L Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRMPD4 Rebecca Foulger reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRMD7 Rebecca Foulger reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FREM2 Rebecca Foulger reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FREM1 Rebecca Foulger reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRAS1 Rebecca Foulger reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXRED1 Rebecca Foulger reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXP3 Rebecca Foulger reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXP2 Rebecca Foulger reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXP1 Rebecca Foulger reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXN1 Rebecca Foulger reviewed gene: FOXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXL2 Rebecca Foulger reviewed gene: FOXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXG1 Rebecca Foulger reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXF1 Rebecca Foulger reviewed gene: FOXF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXE3 Rebecca Foulger reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXE1 Rebecca Foulger commented on gene: FOXE1: DDG2P rating in original PAGE list: Confirmed for BAMFORTH-LAZARUS SYNDROME
Fetal anomalies v0.9 FOXC2 Rebecca Foulger reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXC1 Rebecca Foulger reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOLR1 Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FN1 Rebecca Foulger commented on gene: FN1: DDG2P rating in original PAGE list: Probable for Spondylometaphyseal Dysplasia with Corner Fractures
Fetal anomalies v0.9 FMN2 Rebecca Foulger reviewed gene: FMN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FLVCR2 Rebecca Foulger reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FLVCR1 Rebecca Foulger commented on gene: FLVCR1: DDG2P rating in original PAGE list: Confirmed for ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
Fetal anomalies v0.9 FLT4 Rebecca Foulger commented on gene: FLT4: DDG2P rating in original PAGE list: Confirmed for MILROY DISEASE
Fetal anomalies v0.9 FLRT3 Rebecca Foulger commented on gene: FLRT3: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 FLNB Rebecca Foulger commented on gene: FLNB: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Confirmed for BOOMERANG DYSPLASIA, Confirmed for AUTOSOMAL DOMINANT LARSEN SYNDROME, Confirmed for ATELOSTEOGENESIS TYPE 3 and Confirmed for ATELOSTEOGENESIS TYPE 1.
Fetal anomalies v0.9 FLNA Rebecca Foulger commented on gene: FLNA: DDG2P rating in original PAGE list: Confirmed for OTOPALATODIGITAL SYNDROME TYPE 1, Confirmed for EPILEPTIC ENCEPHALOPATHY, Confirmed for TERMINAL OSSEOUS DYSPLASIA, Confirmed for MELNICK-NEEDLES SYNDROME, Confirmed for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, Confirmed for OTOPALATODIGITAL SYNDROME TYPE 2, Confirmed for FRONTOMETAPHYSEAL DYSPLASIA, Confirmed for FG SYNDROME TYPE 2 and Confirmed for PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1.
Fetal anomalies v0.9 FLAD1 Rebecca Foulger reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FKTN Rebecca Foulger reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FKRP Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FKBP14 Rebecca Foulger reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FIG4 Rebecca Foulger reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FHL1 Rebecca Foulger reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FH Rebecca Foulger reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGFR3 Rebecca Foulger commented on gene: FGFR3: DDG2P rating in original PAGE list: Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for MUENKE SYNDROME, Confirmed for CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, Confirmed for ACHONDROPLASIA, Confirmed for THANATOPHORIC DYSPLASIA TYPE 2, Confirmed for CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, Confirmed for HYPOCHONDROPLASIA, and Confirmed for THANATOPHORIC DYSPLASIA TYPE 1.
Fetal anomalies v0.9 FGFR2 Rebecca Foulger commented on gene: FGFR2: DDG2P rating in original PAGE list: Confirmed for CROUZON SYNDROME, Confirmed for APERT SYNDROME, Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for FAMILIAL SCAPHOCEPHALY SYNDROME, Confirmed for JACKSON-WEISS SYNDROME, Confirmmed for ANTLEY-BIXLER SYNDROME, Confirmed for BEARE-STEVENSON CUTIS GYRATA SYNDROME, and Confirmed for ACROCEPHALOSYNDACTYLY TYPE V.
Fetal anomalies v0.9 FGFR1 Rebecca Foulger commented on gene: FGFR1: DDG2P rating in original PAGE list: Confirmed for OSTEOGLOPHONIC DYSPLASIA, Confirmed for KALLMANN SYNDROME TYPE 2, Confirmed for PFEIFFER SYNDROME, Confirmed for IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, Confirmed for Encephalocraniocutaneous lipomatosis, and Confirmed for Hartsfield syndrome.
Fetal anomalies v0.9 FGF9 Rebecca Foulger reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGF8 Rebecca Foulger commented on gene: FGF8: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 FGF3 Rebecca Foulger reviewed gene: FGF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGF17 Rebecca Foulger commented on gene: FGF17: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 FGF12 Rebecca Foulger commented on gene: FGF12: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 FGF10 Rebecca Foulger reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGD4 Rebecca Foulger reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGD1 Rebecca Foulger reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FEZF1 Rebecca Foulger reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FBXL4 Rebecca Foulger reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FBP1 Rebecca Foulger reviewed gene: FBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FBN2 Rebecca Foulger commented on gene: FBN2: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURAL ARACHNODACTYLY
Fetal anomalies v0.9 FBN1 Rebecca Foulger commented on gene: FBN1: DDG2P rating in original PAGE list: Confirmed for biallelic and monoallelic MARFAN SYNDROME, Confirmed for SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and Confirmed for MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
Fetal anomalies v0.9 FBLN5 Rebecca Foulger commented on gene: FBLN5: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 FAT4 Rebecca Foulger reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAR1 Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCM Rebecca Foulger reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCL Rebecca Foulger reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCI Rebecca Foulger reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCG Rebecca Foulger reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCF Rebecca Foulger reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCE Rebecca Foulger reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCD2 Rebecca Foulger reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCC Rebecca Foulger reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCB Rebecca Foulger reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCA Rebecca Foulger reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM20C Rebecca Foulger reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM20A Rebecca Foulger reviewed gene: FAM20A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM126A Rebecca Foulger reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM111A Rebecca Foulger commented on gene: FAM111A: DDG2P rating in original PAGE list: Confirmed for KENNY-CAFFEY SYNDROME
Fetal anomalies v0.9 FAH Rebecca Foulger reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EZH2 Rebecca Foulger commented on gene: EZH2: DDG2P rating in original PAGE list: Confirmed for WEAVER SYNDROME 2
Fetal anomalies v0.9 EYA1 Rebecca Foulger reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXT2 Rebecca Foulger reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXPH5 Rebecca Foulger reviewed gene: EXPH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXOSC3 Rebecca Foulger commented on gene: EXOSC3: DDG2P rating in original PAGE list: Confirmed for PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.9 EVC2 Rebecca Foulger reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EVC Rebecca Foulger reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETHE1 Rebecca Foulger reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETFDH Rebecca Foulger reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETFB Rebecca Foulger reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETFA Rebecca Foulger reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ESCO2 Rebecca Foulger reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERF Rebecca Foulger commented on gene: ERF: DDG2P rating in original PAGE list: Confirmed for COMPLEX CRANIOSYNOSTOSIS and Confirmed for Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia.
Fetal anomalies v0.9 ERCC8 Rebecca Foulger reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC6L2 Rebecca Foulger reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC6 Rebecca Foulger reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC5 Rebecca Foulger reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC3 Rebecca Foulger reviewed gene: ERCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC2 Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC1 Rebecca Foulger reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EPHX1 Rebecca Foulger commented on gene: EPHX1: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 EPHB4 Rebecca Foulger reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EPG5 Rebecca Foulger reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EP300 Rebecca Foulger reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EOGT Rebecca Foulger reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ENPP1 Rebecca Foulger reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EMD Rebecca Foulger reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EMC1 Rebecca Foulger commented on gene: EMC1: DDG2P rating in original PAGE list: Probable for monoallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy and Probable for biallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Fetal anomalies v0.9 ELOVL4 Rebecca Foulger reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ELN Rebecca Foulger reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ELMO2 Rebecca Foulger reviewed gene: ELMO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ELAC2 Rebecca Foulger reviewed gene: ELAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EIF4A3 Rebecca Foulger commented on gene: EIF4A3: DDG2P rating in original PAGE list: Confirmed for RICHIERI-COSTA-PEREIRA SYNDROME
Fetal anomalies v0.9 EIF2S3 Rebecca Foulger reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EIF2B3 Rebecca Foulger reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EIF2AK3 Rebecca Foulger reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EHMT1 Rebecca Foulger reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EGR2 Rebecca Foulger reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EFTUD2 Rebecca Foulger reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EFNB1 Rebecca Foulger reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EEF1A2 Rebecca Foulger commented on gene: EEF1A2: DDG2P rating in original PAGE list: Probable for INFANTILE EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 EED Rebecca Foulger commented on gene: EED: DDG2P rating in original PAGE list: Probable for Weaver-like overgrowth syndrome
Fetal anomalies v0.9 EDNRB Rebecca Foulger reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EDNRA Rebecca Foulger commented on gene: EDNRA: DDG2P rating in original PAGE list: Confirmed for MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Fetal anomalies v0.9 EDN1 Rebecca Foulger commented on gene: EDN1: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.9 EDAR Rebecca Foulger commented on gene: EDAR: DDG2P rating in original PAGE list: Confirmed for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Fetal anomalies v0.9 EDA Rebecca Foulger commented on gene: EDA: DDG2P rating in original PAGE list: Confirmed for ECTODERMAL DYSPLASIA TYPE 1 and Confirmed for TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1.
Fetal anomalies v0.9 ECEL1 Rebecca Foulger reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EBP Rebecca Foulger reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EBF3 Rebecca Foulger reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DYRK1A Rebecca Foulger reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DYNC2H1 Rebecca Foulger reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DYNC1H1 Rebecca Foulger commented on gene: DYNC1H1: DDG2P rating in original PAGE list: Confirmed for SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD and Confirmed for SEVERE ID WITH NEURONAL MIGRATION DISORDER.
Fetal anomalies v0.9 DYM Rebecca Foulger reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DVL3 Rebecca Foulger commented on gene: DVL3: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.9 DVL1 Rebecca Foulger commented on gene: DVL1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.9 DUSP6 Rebecca Foulger commented on gene: DUSP6: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 DSTYK Rebecca Foulger reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DSPP Rebecca Foulger commented on gene: DSPP: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1, and Confirmed for DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II.
Fetal anomalies v0.9 DSP Rebecca Foulger commented on gene: DSP: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 DSG1 Rebecca Foulger reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DRC1 Rebecca Foulger reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DPM3 Rebecca Foulger reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DPM1 Rebecca Foulger reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DPF2 Rebecca Foulger commented on gene: DPF2: DDG2P rating in original PAGE list: Probable for Coffin Siris like disorder
Fetal anomalies v0.9 DPAGT1 Rebecca Foulger commented on gene: DPAGT1: DDG2P rating in original PAGE list: Confirmed for MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 and Confirmed for DPAGT1-CDG.
Fetal anomalies v0.9 DOLK Rebecca Foulger commented on gene: DOLK: DDG2P rating in original PAGE list: Confirmed for CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.9 DOCK8 Rebecca Foulger reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DOCK7 Rebecca Foulger reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DOCK6 Rebecca Foulger reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNMT3B Rebecca Foulger reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNMT3A Rebecca Foulger reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNM1 Rebecca Foulger commented on gene: DNM1: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 DNAJC19 Rebecca Foulger reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAJC12 Rebecca Foulger reviewed gene: DNAJC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAI1 Rebecca Foulger reviewed gene: DNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAH11 Rebecca Foulger reviewed gene: DNAH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAAF5 Rebecca Foulger commented on gene: DNAAF5: DDG2P rating in original PAGE list: Probable for CILIARY DYSKINESIA, PRIMARY, 18
Fetal anomalies v0.9 DNAAF4 Rebecca Foulger reviewed gene: DNAAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAAF3 Rebecca Foulger reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAAF1 Rebecca Foulger reviewed gene: DNAAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DMPK Rebecca Foulger commented on gene: DMPK: DDG2P rating in original PAGE list: Confirmed for DYSTROPHIA MYOTONICA TYPE 1
Fetal anomalies v0.9 DMP1 Rebecca Foulger reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLL4 Rebecca Foulger reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLL3 Rebecca Foulger reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLG4 Rebecca Foulger reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLG3 Rebecca Foulger reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLD Rebecca Foulger reviewed gene: DLD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLAT Rebecca Foulger reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DKC1 Rebecca Foulger reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DIS3L2 Rebecca Foulger reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHX30 Rebecca Foulger commented on gene: DHX30: DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder
Fetal anomalies v0.9 DHTKD1 Rebecca Foulger reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHODH Rebecca Foulger reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHH Rebecca Foulger reviewed gene: DHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHFR Rebecca Foulger commented on gene: DHFR: DDG2P rating in original PAGE list: Confirmed for MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.9 DHDDS Rebecca Foulger commented on gene: DHDDS: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 DHCR7 Rebecca Foulger reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHCR24 Rebecca Foulger reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DEPDC5 Rebecca Foulger reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DENND5A Rebecca Foulger reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDX6 Rebecca Foulger commented on gene: DDX6: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 DDX59 Rebecca Foulger commented on gene: DDX59: DDG2P rating in original PAGE list: Probable for OROFACIODIGITAL SYNDROME
Fetal anomalies v0.9 DDX3X Rebecca Foulger commented on gene: DDX3X: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DIABILITY
Fetal anomalies v0.9 DDX11 Rebecca Foulger reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDR2 Rebecca Foulger commented on gene: DDR2: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Fetal anomalies v0.9 DDOST Rebecca Foulger reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDHD2 Rebecca Foulger reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDHD1 Rebecca Foulger reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDC Rebecca Foulger reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDB2 Rebecca Foulger reviewed gene: DDB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DCX Rebecca Foulger commented on gene: DCX: DDG2P rating in original PAGE list: Confirmed for SUBCORTICAL BAND HETEROTOPIA X-LINKED and Confirmed for LISSENCEPHALY X-LINKED TYPE 1.
Fetal anomalies v0.9 DCHS1 Rebecca Foulger reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DCDC2 Rebecca Foulger reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DCC Rebecca Foulger reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DBT Rebecca Foulger reviewed gene: DBT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DARS Rebecca Foulger commented on gene: DARS: DDG2P rating in original PAGE list: Confirmed for HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Fetal anomalies v0.9 DAG1 Rebecca Foulger commented on gene: DAG1: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Fetal anomalies v0.9 CYP2U1 Rebecca Foulger reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP21A2 Rebecca Foulger reviewed gene: CYP21A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP1B1 Rebecca Foulger commented on gene: CYP1B1: DDG2P rating in original PAGE list: Confirmed for PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Fetal anomalies v0.9 CYP19A1 Rebecca Foulger commented on gene: CYP19A1: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 CYP17A1 Rebecca Foulger reviewed gene: CYP17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP11B1 Rebecca Foulger reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP11A1 Rebecca Foulger reviewed gene: CYP11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYC1 Rebecca Foulger commented on gene: CYC1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Fetal anomalies v0.9 CYB5R3 Rebecca Foulger reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CWC27 Rebecca Foulger reviewed gene: CWC27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CUX2 Rebecca Foulger commented on gene: CUX2: DDG2P rating in original PAGE list: Probable for Developmental epileptic encephalopathy
Fetal anomalies v0.9 CUL7 Rebecca Foulger reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CUL4B Rebecca Foulger reviewed gene: CUL4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTSK Rebecca Foulger reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTSD Rebecca Foulger reviewed gene: CTSD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTSA Rebecca Foulger reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTNS Rebecca Foulger reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTNND1 Rebecca Foulger reviewed gene: CTNND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTNNB1 Rebecca Foulger reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTDP1 Rebecca Foulger reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTCF Rebecca Foulger reviewed gene: CTCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTC1 Rebecca Foulger reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSTA Rebecca Foulger reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSPP1 Rebecca Foulger reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSNK2A1 Rebecca Foulger commented on gene: CSNK2A1: DDG2P rating in original PAGE list: Confirmed for CSNK2A1 syndrome
Fetal anomalies v0.9 CRYGD Rebecca Foulger commented on gene: CRYGD: DDG2P rating in original PAGE list: Confirmed for CATARACT CONGENITAL CERULEAN TYPE 3 and Confirmed for CATARACT AUTOSOMAL DOMINANT.
Fetal anomalies v0.9 CRYGC Rebecca Foulger reviewed gene: CRYGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRYBB3 Rebecca Foulger commented on gene: CRYBB3: DDG2P rating in original PAGE list: Confirmed for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.9 CRYBB2 Rebecca Foulger commented on gene: CRYBB2: DDG2P rating in original PAGE list: Confirmed for CATARACT, COPPOCK-LIKE and Confirmed for CATARACT, CONGENITAL, CERULEAN TYPE, 2.
Fetal anomalies v0.9 CRYBB1 Rebecca Foulger reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRYBA4 Rebecca Foulger commented on gene: CRYBA4: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR TYPE 2
Fetal anomalies v0.9 CRYBA1 Rebecca Foulger reviewed gene: CRYBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRYAA Rebecca Foulger commented on gene: CRYAA: DDG2P rating in original PAGE list: Confirmed for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 and Confirmed for CATARACT, NUCLEAR.
Fetal anomalies v0.9 CRX Rebecca Foulger reviewed gene: CRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRTAP Rebecca Foulger reviewed gene: CRTAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRLF1 Rebecca Foulger reviewed gene: CRLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRELD1 Rebecca Foulger commented on gene: CRELD1: DDG2P rating in original PAGE list: Probable for HETEROTAXY SYNDROME
Fetal anomalies v0.9 CREBBP Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRB2 Rebecca Foulger reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRB1 Rebecca Foulger reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRADD Rebecca Foulger commented on gene: CRADD: DDG2P rating in original PAGE list: Probable for Megalencephaly with Variant Lissencephaly
Fetal anomalies v0.9 CPT2 Rebecca Foulger reviewed gene: CPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CPS1 Rebecca Foulger reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C5orf42 Rebecca Foulger commented on gene: C5orf42: DDG2P rating in original PAGE list: Confirmed for JOUBERT SYNDROME
Fetal anomalies v0.9 CPAMD8 Rebecca Foulger reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX7B Rebecca Foulger reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX6B1 Rebecca Foulger reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX15 Rebecca Foulger reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX10 Rebecca Foulger commented on gene: COX10: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME and Confirmed for MITOCHONDRIAL COMPLEX IV DEFICIENCY.
Fetal anomalies v0.9 COQ9 Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COQ8A Rebecca Foulger reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COQ4 Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COQ2 Rebecca Foulger reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COMP Rebecca Foulger commented on gene: COMP: DDG2P rating in original PAGE list: Confirmed for ARE THE CAUSE OF PSEUDOACHONDROPLASIA and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1.
Fetal anomalies v0.9 COLEC11 Rebecca Foulger reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COLEC10 Rebecca Foulger reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL9A3 Rebecca Foulger commented on gene: COL9A3: DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3
Fetal anomalies v0.9 COL9A2 Rebecca Foulger commented on gene: COL9A2: DDG2P rating in original PAGE list: Confirmed for STICKLER SYNDROME, TYPE V and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2.
Fetal anomalies v0.9 COL9A1 Rebecca Foulger commented on gene: COL9A1: DDG2P rating in original PAGE list: Confirmed for STICKLER SYNDROME TYPE 4 and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6.
Fetal anomalies v0.9 COL6A3 Rebecca Foulger reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL6A2 Rebecca Foulger reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL6A1 Rebecca Foulger commented on gene: COL6A1: DDG2P rating in original PAGE list: Confirmed for COL6A1 associated myopathy
Fetal anomalies v0.9 COL5A2 Rebecca Foulger reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL5A1 Rebecca Foulger reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL4A4 Rebecca Foulger reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL4A3BP Rebecca Foulger commented on gene: COL4A3BP: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 COL4A3 Rebecca Foulger reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL2A1 Rebecca Foulger commented on gene: COL2A1: DDG2P rating in original PAGE list: Confirmed for KNIEST DYSPLASIA, Confirmed for ACHONDROGENESIS TYPE 2, Confirmed for PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, Confirmed for STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, Confirmed for SPONDYLOPERIPHERAL DYSPLASIA, Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, Confirmed for RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT and Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.
Fetal anomalies v0.9 COL25A1 Rebecca Foulger reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL1A2 Rebecca Foulger reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL1A1 Rebecca Foulger commented on gene: COL1A1: DDG2P rating in original PAGE list: Confirmed for EHLERS-DANLOS SYNDROME TYPE VIIA, Confirmed for OSTEOGENESIS IMPERFECTA TYPE I, Confirmed for OSTEOGENESIS IMPERFECTA TYPE III, Confirmed for EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED, Confirmed for CAFFEY DISEASE, Confirmed for OSTEOGENESIS IMPERFECTA TYPE IIA and Confirmed for COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA.
Fetal anomalies v0.9 COL18A1 Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL13A1 Rebecca Foulger reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL11A2 Rebecca Foulger commented on gene: COL11A2: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 13, Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, Confirmed for STICKLER SYNDROME TYPE 3 and Confirmed for WEISSENBACHER-ZWEYMUELLER SYNDROME.
Fetal anomalies v0.9 COL11A1 Rebecca Foulger commented on gene: COL11A1: DDG2P rating in original PAGE list: Confirmed for FIBROCHONDROGENESIS and Confirmed for STICKLER SYNDROME, TYPE II.
Fetal anomalies v0.9 COL10A1 Rebecca Foulger commented on gene: COL10A1: DDG2P rating in original PAGE list: Confirmed for SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
Fetal anomalies v0.9 COG8 Rebecca Foulger reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG7 Rebecca Foulger reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG5 Rebecca Foulger reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG4 Rebecca Foulger reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG1 Rebecca Foulger reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COASY Rebecca Foulger reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNTNAP2 Rebecca Foulger reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNTNAP1 Rebecca Foulger reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNOT3 Rebecca Foulger reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNKSR2 Rebecca Foulger reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLTC Rebecca Foulger reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLPP Rebecca Foulger commented on gene: CLPP: DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME
Fetal anomalies v0.9 CLPB Rebecca Foulger reviewed gene: CLPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLP1 Rebecca Foulger commented on gene: CLP1: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA, TYPE 10
Fetal anomalies v0.9 CLN8 Rebecca Foulger reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLN5 Rebecca Foulger reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLN3 Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLMP Rebecca Foulger reviewed gene: CLMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLDN19 Rebecca Foulger commented on gene: CLDN19: DDG2P rating in original PAGE list: Confirmed for HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
Fetal anomalies v0.9 CLCNKB Rebecca Foulger reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLCN7 Rebecca Foulger reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CKAP2L Rebecca Foulger reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CIT Rebecca Foulger commented on gene: CIT: DDG2P rating in original PAGE list: Probable for PRIMARY MICROCEPHALY
Fetal anomalies v0.9 CIB2 Rebecca Foulger commented on gene: CIB2: DDG2P rating in original PAGE list: Confirmed for USHER SYNDROME TYPE 1J and Confirmed for NONSYNDROMIC DEAFNESS DFNB48.
Fetal anomalies v0.9 CHUK Rebecca Foulger reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHSY1 Rebecca Foulger reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHST3 Rebecca Foulger reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHST14 Rebecca Foulger reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRNG Rebecca Foulger reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRND Rebecca Foulger reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRNB2 Rebecca Foulger commented on gene: CHRNB2: DDG2P rating in original PAGE list: Probable for CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT and Probable NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT.
Fetal anomalies v0.9 CHRNA4 Rebecca Foulger commented on gene: CHRNA4: DDG2P rating in original PAGE list: Confirmed for NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1
Fetal anomalies v0.9 CHRNA1 Rebecca Foulger reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRDL1 Rebecca Foulger reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHMP1A Rebecca Foulger reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHKB Rebecca Foulger reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD8 Rebecca Foulger reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD7 Rebecca Foulger reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD4 Rebecca Foulger reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD3 Rebecca Foulger commented on gene: CHD3: DDG2P rating in original PAGE list: Probable for Apraxia of speech
Fetal anomalies v0.9 CHD2 Rebecca Foulger reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHAT Rebecca Foulger reviewed gene: CHAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHAMP1 Rebecca Foulger reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CFTR Rebecca Foulger reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CFL2 Rebecca Foulger commented on gene: CFL2: DDG2P rating in original PAGE list: Probable for NEMALINE MYOPATHY 7
Fetal anomalies v0.9 CFC1 Rebecca Foulger reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C21orf2 Rebecca Foulger commented on gene: C21orf2: DDG2P rating in original PAGE list: Confirmed for Axial Spondylometaphyseal Dysplasia
Fetal anomalies v0.9 C21orf59 Rebecca Foulger commented on gene: C21orf59: DDG2P rating in original PAGE list: Probable for PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.9 CEP83 Rebecca Foulger reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP63 Rebecca Foulger reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP57 Rebecca Foulger reviewed gene: CEP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP41 Rebecca Foulger reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP290 Rebecca Foulger reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP164 Rebecca Foulger reviewed gene: CEP164: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP152 Rebecca Foulger reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP135 Rebecca Foulger reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP104 Rebecca Foulger reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CENPJ Rebecca Foulger reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDT1 Rebecca Foulger reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDON Rebecca Foulger commented on gene: CDON: DDG2P rating in original PAGE list: Confirmed for HOLOPROSENCEPHALY 11
Fetal anomalies v0.9 CDKN1C Rebecca Foulger commented on gene: CDKN1C: DDG2P rating in original PAGE list: Confirmed for BECKWITH-WIEDEMANN SYNDROME and Confirmed for IMAGe Syndrome.
Fetal anomalies v0.9 CDKL5 Rebecca Foulger reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDK5RAP2 Rebecca Foulger reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDK13 Rebecca Foulger commented on gene: CDK13: DDG2P rating in original PAGE list: Confirmed for Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v0.9 CDH3 Rebecca Foulger reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDC6 Rebecca Foulger reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDC45 Rebecca Foulger reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDAN1 Rebecca Foulger reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CD96 Rebecca Foulger reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CD151 Rebecca Foulger reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM58A Rebecca Foulger commented on gene: FAM58A: DDG2P rating in original PAGE list: Confirmed for STAR SYNDROME
Fetal anomalies v0.9 CCNO Rebecca Foulger reviewed gene: CCNO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCND2 Rebecca Foulger commented on gene: CCND2: DDG2P rating in original PAGE list: Confirmed for MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Fetal anomalies v0.9 CCDC88C Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC8 Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC78 Rebecca Foulger reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC65 Rebecca Foulger reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC40 Rebecca Foulger reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC39 Rebecca Foulger reviewed gene: CCDC39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC22 Rebecca Foulger commented on gene: CCDC22: DDG2P rating in original PAGE list: Probable for SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Fetal anomalies v0.9 CCDC151 Rebecca Foulger reviewed gene: CCDC151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC115 Rebecca Foulger reviewed gene: CCDC115: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC114 Rebecca Foulger reviewed gene: CCDC114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC103 Rebecca Foulger reviewed gene: CCDC103: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCBE1 Rebecca Foulger reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CC2D2A Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CC2D1A Rebecca Foulger reviewed gene: CC2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CBS Rebecca Foulger reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CBL Rebecca Foulger commented on gene: CBL: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Fetal anomalies v0.9 CAVIN1 Rebecca Foulger reviewed gene: CAVIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CASK Rebecca Foulger commented on gene: CASK: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4 and Confirmed for MRX WITH/WITHOUT NYSTAGMUS.
Fetal anomalies v0.9 CARS2 Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAMTA1 Rebecca Foulger reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAMK2B Rebecca Foulger reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAMK2A Rebecca Foulger reviewed gene: CAMK2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAD Rebecca Foulger commented on gene: CAD: DDG2P rating in original PAGE list: Confirmed for Uridine-responsive epileptic encephalopathy
Fetal anomalies v0.9 CACNA1D Rebecca Foulger commented on gene: CACNA1D: DDG2P rating in original PAGE list: Probable for SINOATRIAL NODE DYSFUNCTION AND DEAFNESS and Probable for PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES.
Fetal anomalies v0.9 CACNA1C Rebecca Foulger commented on gene: CACNA1C: DDG2P rating in original PAGE list: Confirmed for TIMOTHY SYNDROME
Fetal anomalies v0.9 CACNA1A Rebecca Foulger commented on gene: CACNA1A: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 CA8 Rebecca Foulger reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CA5A Rebecca Foulger reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CA2 Rebecca Foulger reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C8orf37 Rebecca Foulger reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C2CD3 Rebecca Foulger reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C1QBP Rebecca Foulger commented on gene: C1QBP: DDG2P rating in original PAGE list: Probable for Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Fetal anomalies v0.9 C12orf65 Rebecca Foulger reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C12orf57 Rebecca Foulger commented on gene: C12orf57: DDG2P rating in original PAGE list: Probable for TEMTAMY SYNDROME; COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
Fetal anomalies v0.9 BUB1B Rebecca Foulger reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BTD Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BSND Rebecca Foulger reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRWD3 Rebecca Foulger reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRPF1 Rebecca Foulger reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRIP1 Rebecca Foulger reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRAT1 Rebecca Foulger reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRAF Rebecca Foulger commented on gene: BRAF: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME TYPE 7, Confirmed for LEOPARD SYNDROME TYPE 3, and Confirmed for CARDIOFACIOCUTANEOUS SYNDROME.
Fetal anomalies v0.9 BPTF Rebecca Foulger reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BOLA3 Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMPR1B Rebecca Foulger reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMPER Rebecca Foulger reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMP4 Rebecca Foulger reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMP1 Rebecca Foulger reviewed gene: BMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BLOC1S6 Rebecca Foulger reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BLM Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BIN1 Rebecca Foulger reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BICD2 Rebecca Foulger commented on gene: BICD2: DDG2P rating in original PAGE list: Confirmed for PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Fetal anomalies v0.9 BHLHA9 Rebecca Foulger commented on gene: BHLHA9: DDG2P rating in original PAGE list: Confirmed for MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE and Confirmed for SPLIT HAND AND FOOT MALFORMATION.
Fetal anomalies v0.9 BFSP2 Rebecca Foulger commented on gene: BFSP2: DDG2P rating in original PAGE list: Confirmed for CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
Fetal anomalies v0.9 BCS1L Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCOR Rebecca Foulger reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCL11A Rebecca Foulger reviewed gene: BCL11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCKDHB Rebecca Foulger reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCKDHA Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCAP31 Rebecca Foulger reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS9 Rebecca Foulger reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS7 Rebecca Foulger reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS5 Rebecca Foulger reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS4 Rebecca Foulger reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS2 Rebecca Foulger reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS12 Rebecca Foulger reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS10 Rebecca Foulger reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS1 Rebecca Foulger reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BANF1 Rebecca Foulger commented on gene: BANF1: DDG2P rating in original PAGE list: Probable for NESTOR-GUILLERMO PROGERIA SYNDROME
Fetal anomalies v0.9 B9D1 Rebecca Foulger reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B4GALT7 Rebecca Foulger reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GLCT Rebecca Foulger reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GAT3 Rebecca Foulger reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GALT6 Rebecca Foulger reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GALNT2 Rebecca Foulger reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AUTS2 Rebecca Foulger reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AUH Rebecca Foulger reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATRX Rebecca Foulger reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATR Rebecca Foulger reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATP8B1 Rebecca Foulger reviewed gene: ATP8B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATP7A Rebecca Foulger commented on gene: ATP7A: DDG2P rating in original PAGE list: Confirmed for OCCIPITAL HORN SYNDROME, Confirmed for SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 and Confirmed for MENKES DISEASE.
Fetal anomalies v0.9 ATP6V1B2 Rebecca Foulger commented on gene: ATP6V1B2: DDG2P rating in original PAGE list: Probable for ZIMMERMANN-LABAND SYNDROME
Fetal anomalies v0.9 ATP6V1B1 Rebecca Foulger reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATP6V0A2 Rebecca Foulger reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATM Rebecca Foulger reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATIC Rebecca Foulger reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASXL3 Rebecca Foulger reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASXL2 Rebecca Foulger reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASXL1 Rebecca Foulger reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASS1 Rebecca Foulger reviewed gene: ASS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASPM Rebecca Foulger reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASPH Rebecca Foulger reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASPA Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASNS Rebecca Foulger commented on gene: ASNS: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 ASL Rebecca Foulger reviewed gene: ASL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASAH1 Rebecca Foulger commented on gene: ASAH1: DDG2P rating in original PAGE list: Confirmed for FARBER LIPOGRANULOMATOSIS and Confirmed for SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY.
Fetal anomalies v0.9 ARX Rebecca Foulger commented on gene: ARX: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED ARX-RELATED, Confirmed for AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, Confirmed for PARTINGTON SYNDROME, Confirmed for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 and Confirmed for LISSENCEPHALY X-LINKED TYPE 2.
Fetal anomalies v0.9 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARSB Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARSA Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARMC9 Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARMC4 Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARL6 Rebecca Foulger commented on gene: ARL6: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 3 and Confirmed for RETINITIS PIGMENTOSA TYPE 55.
Fetal anomalies v0.9 ARL13B Rebecca Foulger reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARID2 Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARID1B Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARID1A Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARHGAP31 Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARG1 Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARFGEF2 Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARCN1 Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 APTX Rebecca Foulger reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 APOPT1 Rebecca Foulger reviewed gene: APOPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4S1 Rebecca Foulger reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4M1 Rebecca Foulger reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4E1 Rebecca Foulger reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4B1 Rebecca Foulger reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP3B2 Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP3B1 Rebecca Foulger reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP1S2 Rebecca Foulger reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANTXR2 Rebecca Foulger reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANTXR1 Rebecca Foulger reviewed gene: ANTXR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANOS1 Rebecca Foulger reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANKRD26 Rebecca Foulger commented on gene: ANKRD26: DDG2P rating in original PAGE list: Probable for THROMBOCYTOPENIA 2
Fetal anomalies v0.9 ANKRD11 Rebecca Foulger reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANKH Rebecca Foulger commented on gene: ANKH: DDG2P rating in original PAGE list: Confirmed for CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE and Confirmed for CHONDROCALCINOSIS 2.
Fetal anomalies v0.9 AMT Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AMPD2 Rebecca Foulger reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALX4 Rebecca Foulger reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALX3 Rebecca Foulger reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALX1 Rebecca Foulger reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALS2 Rebecca Foulger reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALPL Rebecca Foulger commented on gene: ALPL: DDG2P rating in original PAGE list: Confirmed for HYPOPHOSPHATASIA
Fetal anomalies v0.9 ALMS1 Rebecca Foulger reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG9 Rebecca Foulger reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG8 Rebecca Foulger reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG6 Rebecca Foulger reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG3 Rebecca Foulger reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG2 Rebecca Foulger reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG13 Rebecca Foulger commented on gene: ALG13: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHIES, EPILEPTIC ENCEPHALOPATHY and Probable for CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS.
Fetal anomalies v0.9 ALG12 Rebecca Foulger reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG11 Rebecca Foulger reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG1 Rebecca Foulger reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDOA Rebecca Foulger commented on gene: ALDOA: DDG2P rating in original PAGE list: Confirmed for GLYCOGEN STORAGE DISEASE XII
Fetal anomalies v0.9 ALDH7A1 Rebecca Foulger reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH5A1 Rebecca Foulger reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH4A1 Rebecca Foulger reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH3A2 Rebecca Foulger reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH1A3 Rebecca Foulger reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH18A1 Rebecca Foulger commented on gene: ALDH18A1: DDG2P rating in original PAGE list: Confirmed for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Confirmed for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, and Confirmed for CUTIS LAXA, AUTOSOMAL DOMINANT 3.
Fetal anomalies v0.9 AKT3 Rebecca Foulger commented on gene: AKT3: DDG2P rating in original PAGE list: Probable for HEMIMEGALENCEPHALY AKT3
Fetal anomalies v0.9 AKT1 Rebecca Foulger commented on gene: AKT1: DDG2P rating in original PAGE list: Confirmed for PROTEUS SYNDROME
Fetal anomalies v0.9 AKR1D1 Rebecca Foulger reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AK2 Rebecca Foulger reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AIPL1 Rebecca Foulger reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AIMP1 Rebecca Foulger reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AIFM1 Rebecca Foulger commented on gene: AIFM1: DDG2P rating in original PAGE list: Probable for COWCHOCK SYNDROME and Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6.
Fetal anomalies v0.9 AHI1 Rebecca Foulger reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AHDC1 Rebecca Foulger reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGRN Rebecca Foulger reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGPS Rebecca Foulger commented on gene: AGPS: DDG2P rating in original PAGE list: Confirmed for RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
Fetal anomalies v0.9 AGPAT2 Rebecca Foulger reviewed gene: AGPAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGL Rebecca Foulger reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGK Rebecca Foulger reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGA Rebecca Foulger reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AFF4 Rebecca Foulger commented on gene: AFF4: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.9 AFF3 Rebecca Foulger commented on gene: AFF3: DDG2P rating in original PAGE list: Probable for Skeletal dysplasia with severe neurological disease
Fetal anomalies v0.9 AFF2 Rebecca Foulger reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADSL Rebecca Foulger commented on gene: ADSL: DDG2P rating in original PAGE list: Confirmed for ADENYLOSUCCINASE DEFICIENCY
Fetal anomalies v0.9 ADNP Rebecca Foulger reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADGRG6 Rebecca Foulger reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADGRG1 Rebecca Foulger reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAR Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAMTSL2 Rebecca Foulger reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAMTS17 Rebecca Foulger reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAMTS10 Rebecca Foulger reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADA Rebecca Foulger reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACY1 Rebecca Foulger reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACVRL1 Rebecca Foulger reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACVR1 Rebecca Foulger commented on gene: ACVR1: DDG2P rating in original PAGE list: Probable for FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fetal anomalies v0.9 ACTG2 Rebecca Foulger commented on gene: ACTG2: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 ACTG1 Rebecca Foulger commented on gene: ACTG1: DDG2P rating in original PAGE list: Confirmed for BARAITSER-WINTER SYNDROME
Fetal anomalies v0.9 ACTC1 Rebecca Foulger reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACTA1 Rebecca Foulger commented on gene: ACTA1: DDG2P rating in original PAGE list: Probable for NEMALINE MYOPATHY 3
Fetal anomalies v0.9 ACSL4 Rebecca Foulger reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACP5 Rebecca Foulger reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACOX1 Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACO2 Rebecca Foulger reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACE Rebecca Foulger reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACAT1 Rebecca Foulger reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACAN Rebecca Foulger commented on gene: ACAN: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY and Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE.
Fetal anomalies v0.9 ACADVL Rebecca Foulger reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACADM Rebecca Foulger reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACAD9 Rebecca Foulger reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABL1 Rebecca Foulger commented on gene: ABL1: DDG2P rating in original PAGE list: Probable for Congenital heart defects and skeletal malformations
Fetal anomalies v0.9 ABHD5 Rebecca Foulger reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCD4 Rebecca Foulger reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCC9 Rebecca Foulger commented on gene: ABCC9: DDG2P rating in original PAGE list: Confirmed for CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.9 ABCC8 Rebecca Foulger commented on gene: ABCC8: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 ABCC6 Rebecca Foulger reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCB7 Rebecca Foulger commented on gene: ABCB7: DDG2P rating in original PAGE list: Confirmed for ANEMIA, SIDEROBLASTIC, WITH ATAXIA
Fetal anomalies v0.9 ABCB11 Rebecca Foulger reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCA12 Rebecca Foulger reviewed gene: ABCA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AASS Rebecca Foulger reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AARS Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AAAS Rebecca Foulger reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.8 SUFU Rebecca Foulger Added comment: Comment on phenotypes: Removed 'Medulloblastoma' phenotype: Although this was listed in the 'Additional genes list', this phenotype beongs on the Gene2Phenotype cancer list and not the DD list.
Fetal anomalies v0.8 SUFU Rebecca Foulger Phenotypes for gene: SUFU were changed from Medulloblastoma, desmoplastic 155255; Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400 to Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400
Early onset or syndromic epilepsy v0.1488 NTRK2 Konstantinos Varvagiannis gene: NTRK2 was added
gene: NTRK2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NTRK2 were set to 29100083; 15494731
Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58 (MIM 617830); Obesity, hyperphagia, and developmental delay (MIM 613886)
Penetrance for gene: NTRK2 were set to unknown
Review for gene: NTRK2 was set to GREEN
Added comment: Heterozygous pathogenic variants in NTRK2 cause Epileptic encephalopathy, early infantile, 58 (EIEE58 - MIM 617830) or Obesity, hyperphagia, and developmental delay (MIM 613886).

Seizures can be noted in individuals falling into either diagnosis [eg. observed in the individuals with obesity and hyperphagia as in PMIDs: 15494731 and 29100083 (individual with Thr720Ile)].

Concerning EIEE58 Tyr434Cys appears to be a recurrent variant that has been observed in 4 unrelated individuals (summary in table 2 from PMID: 29100083).

NTRK2 is a probable DD gene in G2P associated with epilepsy and ID.

As a result, this gene can be considered for inclusion in this panel as green.
Sources: Literature
Intellectual disability v2.579 NTRK2 Konstantinos Varvagiannis gene: NTRK2 was added
gene: NTRK2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NTRK2 were set to 29100083; 28135719; 15494731; 27884935
Phenotypes for gene: NTRK2 were set to Epileptic encephalopathy, early infantile, 58 (MIM 617830); Obesity, hyperphagia, and developmental delay (MIM 613886)
Penetrance for gene: NTRK2 were set to unknown
Review for gene: NTRK2 was set to GREEN
gene: NTRK2 was marked as current diagnostic
Added comment: Heterozygous pathogenic variants in NTRK2 cause Epileptic encephalopathy, early infantile, 58 (EIEE58 - MIM 617830) or Obesity, hyperphagia, and developmental delay (MIM 613886).

DD/ID are among the observed features.

Seizures can be noted in individuals falling into either diagnosis [eg. observed in the individuals with obesity and hyperphagia as in PMIDs: 15494731 and 29100083 (individual with Thr720Ile who presented also with moderate to severe ID)].

Concerning EIEE58 Tyr434Cys appears to be a recurrent variant that has been observed in 4 unrelated individuals (summary in table 2 from PMID: 29100083).

A de novo missense variant (Gly344Cys) was observed in DDD study participant DDD4K.02136 (PMID: 28135719).

NTRK2 is a probable DD gene in G2P associated with epilepsy and ID.

The gene is included in gene panels for ID offered by different diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in this panel as green (rather than amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Early onset or syndromic epilepsy v0.1488 ALDH7A1 Ellen McDonagh commented on gene: ALDH7A1
Early onset or syndromic epilepsy v0.1488 ALDH7A1 Ellen McDonagh Tag treatable tag was added to gene: ALDH7A1.
Pituitary hormone deficiency v0.24 PAX6 Ivone Leong commented on gene: PAX6
Pituitary hormone deficiency v0.24 PAX6 Ivone Leong Publications for gene: PAX6 were set to
Pituitary hormone deficiency v0.23 GLI3 Ivone Leong Classified gene: GLI3 as Green List (high evidence)
Pituitary hormone deficiency v0.23 GLI3 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GLI3 is confirmed to be associated with Pallister Hall syndrome in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with Pallister Hall syndrome with growth hormone deficiency who have variants in the GLI3 gene.
Pituitary hormone deficiency v0.23 GLI3 Ivone Leong Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.22 GLI3 Ivone Leong Publications for gene: GLI3 were set to
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Classified gene: FGFR1 as Green List (high evidence)
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. FGFR1 is confirmed to be associated with the listed phenotypes in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities (Version 1.25), Hypogonadotropic hypogonadism (Version 1.15) and Holoprosencephaly (Version 1.6) panels. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the FGFR1 gene.
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.20 FGFR1 Ivone Leong Publications for gene: FGFR1 were set to
Pituitary hormone deficiency v0.19 FGF8 Ivone Leong Classified gene: FGF8 as Green List (high evidence)
Pituitary hormone deficiency v0.19 FGF8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. FGF8 is confirmed to be associated with Hypogonadotropic hypogonadism 6 with or without anosmia on OMIM only. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients with Hypogonadotropic hypogonadism who have variants in FGF8.
Pituitary hormone deficiency v0.19 FGF8 Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.18 FGF8 Ivone Leong Publications for gene: FGF8 were set to
Intellectual disability v2.579 TMEM94 Konstantinos Varvagiannis gene: TMEM94 was added
gene: TMEM94 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM94 were set to Global developmental delay; Intellectual disability; Abnormal heart morphology; Abnormality of head or neck
Penetrance for gene: TMEM94 were set to Complete
Review for gene: TMEM94 was set to AMBER
Added comment: Stephen et al. (https://doi.org/10.1016/j.ajhg.2018.11.001) report on 10 individuals from 6 unrelated families with bi-allelic truncating TMEM94 variants. The common phenotype consisted of global DD/ID, similar facial features as well as the presence of congenital heart defects (in all but one).

Speech as well as motor delay and learning difficulties were universal features. ID is mentioned in the abstract, explicitly specified for one individual and implied for some of the rest.

Overall 6 different LoF variants are reported. Reduced expression was demonstrated while gene expression microarray and RNA sequencing expression studies demonstrated dysregulation of several essential genes. Using a CRISPR/Cas9 mouse model loss of Tmem94 was shown to be embryonically lethal with craniofacial, cardiac anomalies as well as abnormal neuronal migration pattern observed in homozygous mutant mice embryos.

TMEM94 is not associated with any phenotype in G2P nor in OMIM.

As a result this gene can be considered for inclusion in this panel probably as amber (or green).
Sources: Literature
Pituitary hormone deficiency v0.17 BMP4 Ivone Leong reviewed gene: BMP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.17 BMP2 Ivone Leong Publications for gene: BMP2 were set to
Pituitary hormone deficiency v0.16 BMP4 Ivone Leong Publications for gene: BMP4 were set to
Pituitary hormone deficiency v0.15 SOX3 Ivone Leong Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked (312000) to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Pituitary hormone deficiency v0.14 SOX3 Ivone Leong Classified gene: SOX3 as Green List (high evidence)
Pituitary hormone deficiency v0.14 SOX3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. SOX3 is confirmed to be associated with Mental retardation, X-linked, with isolated growth hormone deficiency and X-linked panhypopituitarism in OMIM and Gene2Phenotype. It is also a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with growth hormone deficiency who have variants in SOX3.
Pituitary hormone deficiency v0.14 SOX3 Ivone Leong Gene: sox3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 SOX3 Ivone Leong Publications for gene: SOX3 were set to
Pituitary hormone deficiency v0.12 SOX2 Ivone Leong Classified gene: SOX2 as Green List (high evidence)
Pituitary hormone deficiency v0.12 SOX2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. The phenotypes for SOX2 are confirmed in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with the described phenotypes who have variants in the SOX2 gene. A mouse model (PMID: 16932809) with heterozygous Sox2 knocked out developed combined pituitary hormone deficiency.
Pituitary hormone deficiency v0.12 SOX2 Ivone Leong Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.11 SOX2 Ivone Leong Publications for gene: SOX2 were set to
Pancreatitis v1.0 Ellen McDonagh promoted panel to version 1.0
Pituitary hormone deficiency v0.10 GHRHR Ivone Leong commented on gene: GHRHR
Pituitary hormone deficiency v0.10 GHRHR Ivone Leong Mode of inheritance for gene: GHRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.9 GH1 Ivone Leong commented on gene: GH1
Pancreatitis v0.48 PRSS1 Ellen McDonagh Added comment: Comment on mode of pathogenicity: Seems to be a gain-of-function mechanism.
Pancreatitis v0.48 PRSS1 Ellen McDonagh Mode of pathogenicity for gene: PRSS1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Pituitary hormone deficiency v0.9 BTK Ivone Leong Added comment: Comment on publications: BTK is confirmed to be associated with isolated growth hormone deficiency in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients diagnosed with growth hormone deficiency who have variants in BTK.
Pituitary hormone deficiency v0.9 BTK Ivone Leong Publications for gene: BTK were set to
Pancreatitis v0.47 CPA1 Louise Daugherty Phenotypes for gene: CPA1 were changed from chronic pancreatitis; hereditary chronic pancreatitis to Chronic pancreatitis; Hereditary chronic pancreatitis
Pancreatitis v0.46 CFTR Ellen McDonagh Phenotypes for gene: CFTR were changed from {Pancreatitis, hereditary} 167800 to {Pancreatitis, hereditary} 167800; Cystic fibrosis 219700
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Added comment: Comment on list classification: Demoted from green to amber based on literature evidence. KCNQ1 is not associated with pituitary hormone deficiency in OMIM or Gene2Phenotype. PMID: 29097701 found that 3 unrelated families (2 Finnish and 1 Argentinian) with pituitary hormone deficiency and maternally inherited gingival fibromatosis have missense variants in the KCNQ1 gene.
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.7 KCNQ1 Ivone Leong Tag watchlist tag was added to gene: KCNQ1.
Inherited white matter disorders v1.25 Ellen McDonagh Panel types changed to Rare Disease 100K
Adult onset leukodystrophy v0.0 Ellen McDonagh Added Panel White matter disorders – adult onset
Set panel types to: GMS Rare Disease
Intellectual disability v2.579 PUS3 Konstantinos Varvagiannis reviewed gene: PUS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27055666, 30308082; Phenotypes: ?Mental retardation, autosomal recessive 55 (MIM 617051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.579 PUS3 Konstantinos Varvagiannis Deleted their review
Pituitary hormone deficiency v0.7 BTK Ivone Leong gene: BTK was added
gene: BTK was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)
Pituitary hormone deficiency v0.7 TBX19 Ivone Leong gene: TBX19 was added
gene: TBX19 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency (201400)
Pituitary hormone deficiency v0.7 SLC20A1 Ivone Leong gene: SLC20A1 was added
gene: SLC20A1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: SLC20A1 was set to Unknown
Phenotypes for gene: SLC20A1 were set to No OMIM number
Pituitary hormone deficiency v0.7 SLC15A4 Ivone Leong gene: SLC15A4 was added
gene: SLC15A4 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: SLC15A4 was set to Unknown
Phenotypes for gene: SLC15A4 were set to No OMIM number
Pituitary hormone deficiency v0.7 KCNQ1 Ivone Leong gene: KCNQ1 was added
gene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Long QT syndrome 1 (192500); Pituitary hormone deficiency
Pituitary hormone deficiency v0.7 PITX2 Ivone Leong gene: PITX2 was added
gene: PITX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX2 were set to Axenfeld-Rieger syndrome, type 1 (180500); Anterior segment dysgenesis 4 (137600)
Pituitary hormone deficiency v0.7 GNRHR Ivone Leong gene: GNRHR was added
gene: GNRHR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)
Pituitary hormone deficiency v0.7 GHSR Ivone Leong gene: GHSR was added
gene: GHSR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925)
Pituitary hormone deficiency v0.7 GHRHR Ivone Leong gene: GHRHR was added
gene: GHRHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHRHR was set to Unknown
Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157)
Pituitary hormone deficiency v0.7 GHRH Ivone Leong gene: GHRH was added
gene: GHRH was added to Pituitary hormone deficiency. Sources: Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHRH was set to Unknown
Phenotypes for gene: GHRH were set to ?Isolated growth hormone deficiency due to defect in GHRF; No OMIM number
Pituitary hormone deficiency v0.7 GHR Ivone Leong gene: GHR was added
gene: GHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism (262500); Increased responsiveness to growth hormone (604271); Growth hormone insensitivity, partial (604271)
Pituitary hormone deficiency v0.7 GH1 Ivone Leong gene: GH1 was added
gene: GH1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II (173100); Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781)
Pituitary hormone deficiency v0.7 FOXA2 Ivone Leong gene: FOXA2 was added
gene: FOXA2 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: FOXA2 was set to Unknown
Phenotypes for gene: FOXA2 were set to No OMIM number
Pituitary hormone deficiency v0.7 BMP2 Ivone Leong gene: BMP2 was added
gene: BMP2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
Pituitary hormone deficiency v0.7 ZIC2 Ivone Leong gene: ZIC2 was added
gene: ZIC2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5 (609637)
Pituitary hormone deficiency v0.7 SIX3 Ivone Leong gene: SIX3 was added
gene: SIX3 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170)
Pituitary hormone deficiency v0.7 PSTPIP1 Ivone Leong gene: PSTPIP1 was added
gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly
Pituitary hormone deficiency v0.7 PTCH1 Ivone Leong gene: PTCH1 was added
gene: PTCH1 was added to Pituitary hormone deficiency. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828)
Pituitary hormone deficiency v0.7 NODAL Ivone Leong gene: NODAL was added
gene: NODAL was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to Holoprosencephaly; Heterotaxy, visceral, 5 (270100)
Pituitary hormone deficiency v0.7 FOXH1 Ivone Leong gene: FOXH1 was added
gene: FOXH1 was added to Pituitary hormone deficiency. Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FOXH1 was set to Unknown
Phenotypes for gene: FOXH1 were set to Holoprosencephaly; No OMIM number
Intellectual disability v2.579 PUS3 Konstantinos Varvagiannis gene: PUS3 was added
gene: PUS3 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 27055666; 30308082
Phenotypes for gene: PUS3 were set to Global developmental delay; Intellectual disability; Microcephaly
Penetrance for gene: PUS3 were set to Complete
Review for gene: PUS3 was set to AMBER
gene: PUS3 was marked as current diagnostic
Added comment: PUS3 (Pseudouridylate synthase 3) is proposed as a gene related to ID in a recent publication on PUS7.

Biallelic mutations in this gene are associated in OMIM with ?Mental retardation, autosomal recessive 55 (MIM 617051).

PMID: 27055666 reports on 3 sisters from a consanguineous Saudi Arabian family with failure to thrive, DD/ID, microcephaly and some common (coarse) facial features. These individuals were homozygous for a stopgain mutation in the last exon of the gene. Pseudouridylation appeared to be defective (as has also been the case with other genes related to ID, eg. PUS7).

PMID: 30308082 describes 1 individual born to consanguineous Palestinian parents, homozygous for a further LoF variant. Despite the localisation of this variant (again in the last exon of the gene) qPCR analyses were suggestive of degradation of the abnormal transcript possibly by NMD. The phenotype consisted of DD/ID and microcephaly.

In a further publication (http://dx.doi.org/10.7124/bc.0008D6) Gulkovskyi et al. report on 2 siblings with ID, born to non-consanguineous Ukranian parents. Pathogenicity of the variant is disputed. [NM_031307.4:c.212A>G or p.(Tyr71Cys) is found in an apparent homozygous state in the sibs but was only found in their father. De novo occurence in the maternal allele is proposed although the possibility of microdeletion missed by aCGH or other plausible mechanisms are not considered. This variant has maximum pathogenicity scores in silico (not discussed) and has an allele frequency of 0.00006717 in gnomAD. The authors did not perform studies of pseudouridylation but examined for the presence of hypoproteinemia, observed in some disorders affecting this process).

PUS3 is not associated with any phenotype in G2P but is associated with disease in OMIM.

The gene is included in gene panels for ID offered by various diagnostic laboratories (including Radboudumc). PUS1 is included in the current panel as green and PUS7 has been suggested for inclusion.

As a result, these gene can be considered for inclusion as amber (2 families) or green (given the supportive functional studies and/or the proposed role for the gene).
Sources: Literature, Radboud University Medical Center, Nijmegen
Inherited white matter disorders v1.24 Ellen McDonagh Panel name changed from Leukodystrophy - adult onset to Inherited white matter disorders
List of related panels changed from Inherited white matter disorders to Leukodystrophy - adult onset
Intellectual disability v2.579 PBX1 Konstantinos Varvagiannis reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28270404, 28566479, 29036646; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.579 PBX1 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.579 PBX1 Konstantinos Varvagiannis reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28270404, 28566479, 29036646; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.579 PPP1R21 Zornitza Stark reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: None; Publications: 30520571, 29808498, 2894097; Phenotypes: severe intellectual disability, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v0.1488 TANGO2 Konstantinos Varvagiannis gene: TANGO2 was added
gene: TANGO2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 29369572; 30245509
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878
Penetrance for gene: TANGO2 were set to Complete
Review for gene: TANGO2 was set to GREEN
gene: TANGO2 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in TANGO2 cause Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM 616878

PMIDs: 29369572 and 30245509 are both reviews on the disorder. Epilepsy is a feature in 70-80% of the patients (29 individuals reviewed in the second article).

According to PMID: 29369572 "Seizures are observed outside the periods of crises in more than 75% of individuals". PMID 30245509 notes that seizures occurred in a small minority of patients only during periods of crises secondary to hypoglycemia or associated with arrhythmia.

TANGO2 is included in gene panels for epilepsy offered by (few) diagnostic laboratories. The gene is already present in the ID and mitochondrial disorders panels as green.

As a result, this gene can also be considered for inclusion in this panel as green.
Sources: Literature
Intellectual disability v2.579 METTL23 Konstantinos Varvagiannis gene: METTL23 was added
gene: METTL23 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL23 were set to 24501276; 24626631
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44 (MIM 615942)
Penetrance for gene: METTL23 were set to Complete
Review for gene: METTL23 was set to GREEN
gene: METTL23 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in METTL23 cause Mental retardation, autosomal recessive 44 (MIM 615942).

Reiff et al. (PMID: 24501276) report on a consanguineous pedigree of Yemeni origin with 7 individuals presenting intellectual disability. Clinical details are provided for 3 subjects from one branch of the family. Findings included moderate (2/3) or severe (1/3) ID, seizures (2/3) and some common facial features. Seizures were not observed in individuals from other branch of the family. The affected individuals were homozygous for a 4-bp deletion.

Bernkopf et al. (PMID: 24626631) report on a consanguineous family from Pakistan with 2 affected sibs as well as a non-consanguineous family from Austria with 4 affected sibs. The parents in the latter family originated from a small - geographically isolated - village. Individuals from the Pakistani family were homozygous for a nonsense variant, while the sibs from the Austrian family for a frameshift variant. Mild ID was noted in all.

In total 3 different LoF variants have been reported. Extensive functional studies have been performed in both articles.

METTL23 (methyltransferase like 23) is expressed at low-to-moderate levels in the developping human brain. Bernkopf et al. suggest that METTL23 is indeed a methyltransferase.

The gene has 7 transcripts of which one is non-coding. 3 transcripts encode isoform 1 and 3 other encode isoform 2.

The variant reported by Reiff et al. affects the coding region of 3 (of the 6 coding) transcripts (corresponding to isoform 1) and the 5'-UTR of the other 3 transcripts. It is however shown that this first coding exon (specific to isoform 1) is expressed in the developing human brain, though at lower levels than downstream exons common to both isoforms. In addition, only isoform 1 appears to be conserved in most other species.

The variants described by Bernkopf et al. affect all 6 coding trancripts and as a result both isoforms. [However, the individuals reported by Bernkopf et al. were less severely affected compared to those reported by Reiff et al.]

Nonsense-mediated decay appeared unlikely since mRNA levels for both isoforms in lymphoblasts from affected individuals were similar to controls (upon qRT-PCR) [The specific nonsense variant tested would be expected to be subject to NMD given its localization].

METTL23 is not associated with any phenotype in G2P.

This gene is included in gene panels for intellectual disability offered by various diagnostic laboratories.

As a result, METTL23 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Limb disorders v0.359 CCND2 Eleanor Williams Added comment: Comment on mode of pathogenicity: PMID: 24705253 functional analysis suggests gain of function
Limb disorders v0.359 CCND2 Eleanor Williams Mode of pathogenicity for gene: CCND2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Limb disorders v0.358 TBX4 Eleanor Williams Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome to Ischiocoxopodopatellar syndrome 147891
Limb disorders v0.357 RBM8A Eleanor Williams Phenotypes for gene: RBM8A were changed from Thrombocytopenia-absent radius syndrome, 274000; Thrombocytopenia-absent radius syndrome 274000 to Thrombocytopenia-absent radius syndrome, 274000
Limb disorders v0.356 RAB23 Eleanor Williams Phenotypes for gene: RAB23 were changed from Carpenter syndrome 201000; Polydactyly to Carpenter syndrome 201000; Polydactyly; ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Limb disorders v0.355 PTHLH Eleanor Williams Phenotypes for gene: PTHLH were changed from Brachydactyly, type E2 to Brachydactyly, type E2 613382
Limb disorders v0.354 LMX1B Eleanor Williams Phenotypes for gene: LMX1B were changed from Nail-patella syndrome to Nail-patella syndrome 161200
Limb disorders v0.353 HDAC4 Eleanor Williams commented on gene: HDAC4
Limb disorders v0.353 BHLHA9 Eleanor Williams Publications for gene: BHLHA9 were set to
Early onset or syndromic epilepsy v0.1488 MAST1 Konstantinos Varvagiannis gene: MAST1 was added
gene: MAST1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST1 were set to 30449657; 23934111
Phenotypes for gene: MAST1 were set to Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures
Penetrance for gene: MAST1 were set to unknown
Review for gene: MAST1 was set to GREEN
Added comment: PMID: 30449657 reports on 6 unrelated individuals with de novo mutations in MAST1. All these 6 individuals were investigated for a strikingly similar phenotype of enlarged corpus callosum (CC), cerebellar hypoplasia, cortical malformation with associated DD/ID. Seizures were a feature in 2/6 (one further had EEG anomalies without clinical seizures).

Three of them harbored an in-frame deletion of 1 amino-acid (3 different indels reported - all in a specific domain) while 3 others had a missense variant (NM_014975.2:c.1549G>A or p.Gly517Ser).

Mast1 has embryonic expression in murine models with postnatal decrease. Similarly qPCR of human fetal brain cDNA demonstrated expression at 13 and 22 gestational weeks. A murine model for L278del recapitulated the brain (incl. CC) and cerebellar phenotype while Mast1 knockout mice do not present similar morphological defects. While Western blot in murine brain lysates demonstrated absence of Mast1 in knockout and reduction in the L278del, Mast1 transcript levels for L278del were similar to wildtype. Other Mast proteins (Mast1 & Mast2) were significantly reduced upon western blot while this was not reflected in their mRNA levels, suggesting a dominant-negative effect, at least for the L278del.

4 additional individuals with somewhat different phenotype consisting DD/ID and microcephaly/autism are described in the supplement. All 4 had de novo missense variants but did not display the CC-cerebral and cerebellar anomalies. Four different (additional to Gly517Ser) missense SNVs were observed.

Several additional individuals exist in the denovo-db (among others DDD participant DDD4K.02310 published in 28135719, 25666757 - McMichael et al. commented in the article, 27479843, etc.). [http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=Mast1]

Epilepsy was a feature in 4/10 individuals (with an additional one with EEG anomalies without clinical seizures). One further individual from PMID:23934111 (in denovo-db) had seizures.

As the authors comment (and as evident from the 6+4 reported patients) the related neurodevelopmental phenotype may be more complex.

MAST1 is not related to any phenotype in G2P, nor in OMIM.

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.579 MAST1 Konstantinos Varvagiannis gene: MAST1 was added
gene: MAST1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST1 were set to 30449657; 28135719; 25666757; 27479843
Phenotypes for gene: MAST1 were set to Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures; Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures
Penetrance for gene: MAST1 were set to unknown
Review for gene: MAST1 was set to GREEN
gene: MAST1 was marked as current diagnostic
Added comment: PMID: 30449657 reports on 6 unrelated individuals with de novo mutations in MAST1. All these 6 individuals were investigated for a strikingly similar phenotype of enlarged corpus callosum (CC), cerebellar hypoplasia, cortical malformation with associated DD/ID. Seizures were a feature in 2/6 (one further had EEG anomalies without clinical seizures).

Three of them harbored an in-frame deletion of 1 amino-acid (3 different indels reported - all in a specific domain) while 3 others had a missense variant (NM_014975.2:c.1549G>A or p.Gly517Ser).

Mast1 has embryonic expression in murine models with postnatal decrease. Similarly qPCR of human fetal brain cDNA demonstrated expression at 13 and 22 gestational weeks. A murine model for L278del recapitulated the brain (incl. CC) and cerebellar phenotype while Mast1 knockout mice do not present similar morphological defects. While Western blot in murine brain lysates demonstrated absence of Mast1 in knockout and reduction in the L278del, Mast1 transcript levels for L278del were similar to wildtype. Other Mast proteins (Mast1 & Mast2) were significantly reduced upon western blot while this was not reflected in their mRNA levels, suggesting a dominant-negative effect, at least for the L278del.

4 additional individuals with somewhat different phenotype consisting DD/ID and microcephaly/autism are described in the supplement. All 4 had de novo missense variants but did not display the CC-cerebral and cerebellar anomalies. Four different (additional to Gly517Ser) missense SNVs were observed.

Several additional individuals exist in the denovo-db (among others DDD participant DDD4K.02310 published in 28135719, 25666757 - McMichael et al. commented in the article, 27479843, etc.). [http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=Mast1]

Epilepsy was a feature in 4/10 individuals (with an additional one with EEG anomalies without clinical seizures). One further individual from PMID:23934111 (in denovo-db) had seizures.

As the authors comment (and as evident from the 6+4 reported patients) the related neurodevelopmental phenotype may be more complex.

MAST1 is not related to any phenotype in G2P, nor in OMIM.

The gene is included in gene panels for ID offered by different diagnostic laboratories.

As a result, this gene can be considered for inclusion in this panel as green.
Sources: Literature
Limb disorders v0.352 BHLHA9 Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI back to biallelic only, as the duplication of this gene in SPLIT HAND AND FOOT MALFORMATION seems to be more of a susceptibility factor.
Limb disorders v0.352 BHLHA9 Eleanor Williams Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1488 RPIA Konstantinos Varvagiannis gene: RPIA was added
gene: RPIA was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611
Penetrance for gene: RPIA were set to unknown
Review for gene: RPIA was set to AMBER
Added comment: Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611.

PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T / NP_653164.2:p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG / NP_653164.2:p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548].

PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis.

PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis.

2 of the 3 patients described in the literature presented seizures.

As a result this gene can be considered for inclusion in this panel as amber.
Sources: Literature
Intellectual disability v2.579 RPIA Konstantinos Varvagiannis gene: RPIA was added
gene: RPIA was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM 608611.
Penetrance for gene: RPIA were set to unknown
Review for gene: RPIA was set to GREEN
gene: RPIA was marked as current diagnostic
Added comment: Biallelic pathogenic variants in RPIA cause Ribose 5-phosphate isomerase deficiency, MIM 608611.

PMID: 14988808 is the first report on the disorder with molecular (incl. genetic) confirmation of the diagnosis. A patient initially investigated for early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy at the age of 7, was suspected to have a disorder of the pentose phosphate pathway on the basis of highly elevated polyols on brain MRS and body fluid analysis. Reduced ribose 5-phosphate isomerase activity was shown in fibroblasts. Genetic testing demonstrated the presence of a missense (NM_144563.2:c.404C>T / NP_653164.2:p.Ala135Val - previously referred to as A61V) as well as a frameshift variant (NM_144563.2:c.762delG / NP_653164.2:p.Asn255Ilefs). Additional extensive supportive functional studies were published a few years later (PMID: 20499043). [This patient was initially described in PMID: 10589548].

PMID: 28801340 is a report on a second patient. This individual presented with delayed early development (independent walking and speech achieved at 2 and 5 years respectively), seizures and regression at the age of 7 with MRI white matter abnormalities. Review of magnetic resonance spectroscopy (MRS) was suggestive of elevated polyols (arabitol and ribitol). In line with this, genetic testing revealed a homozygous missense variant in RPIA (NM_144563.2:c.592T>C or p.Phe198Leu). Urine analysis confirmed elevated excretion of polyols, thus confirming the diagnosis.

PMID: 30088433 reports on a boy with neonatal onset leukoencephalopathy and developmental delay having undergone early metabolic testing and aCGH (the latter at the age of 16 months). Persistance of his delay motivated exome sequencing at the age of approx. 4.5 years which demonstrated 2 RPIA variants (NM_144563.2:c.253G>A or p.Ala85Thr and NM_144563.2:c.347-1G>A). Measurement of ribitol and arabitol in urine demonstrated significant elevations (>20x) consistent with this diagnosis.

RPIA is included in gene panels for intellectual disability offered by various diagnostic laboratories.

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.579 PUS7 Konstantinos Varvagiannis reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, Microcephaly, Short stature, Behavioral abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.579 PUS7 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.579 PUS7 Konstantinos Varvagiannis gene: PUS7 was added
gene: PUS7 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS7 were set to Intellectual disability; Microcephaly; Short stature; Behavioral abnormality
Penetrance for gene: PUS7 were set to Complete
Review for gene: PUS7 was set to GREEN
gene: PUS7 was marked as current diagnostic
Added comment: de Brouwer et al. (https://doi.org/10.1016/j.ajhg.2018.10.026) report on 6 individuals from 3 unrelated families homozygous for truncating variants in PUS7.

The common phenotype consisted of ID with speech delay, microcephaly, short stature as well as aggressive behavior.

One frameshift, one nonsense and one intragenic deletion affecting the penultimate exon of PUS7 were private respectively to each family. qPCR demonstrated reduction of mRNA levels for the two first variants, with absence of the normally sized protein upon Western blot for the first one.

The deletion, not identified due to its small size by aCGH, was found in the exome analysis and confirmed by MAQ. RT-PCR demonstrated the absence of the respective exon in mRNA. The deletion resulted in introduction of a stop codon in the last exon and mRNA expression levels were shown to be normal. Western blot demonstrated absence of a normally sized protein. (As a result, truncating mutations in the last exon may also be deleterious).

Functional studies demonstrated defective tRNA and mRNA pseudouridylation. Drosophila knockouts recapitulated the behavioral phenotype.

Biallelic mutations in PUS1 and PUS3 have been reported in individuals with intellectual disability (as well as some other features noted in PUS7-related disorder).

PUS7 is included in the gene panel for ID offered by Radboud UMC (among the principal authors of the study).

Therefore this gene can be considered for inclusion in this panel as green (rather than amber).
Sources: Literature
Early onset dystonia v1.68 DLAT Chris Buxton reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 20022530, 16049940; Phenotypes: episodic dystonia, pyruvate dehydrogenase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia v1.68 BCAP31 Chris Buxton reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: None; Publications: 24011989; Phenotypes: Intellectual disability, dystonia, sensorineural deafness; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v0.6 OTX2 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.6 OTX2 Ivone Leong commented on gene: OTX2: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2.
Pituitary hormone deficiency v0.6 GLI2 Ivone Leong commented on gene: GLI2
Pituitary hormone deficiency v0.6 GLI2 Ivone Leong Publications for gene: GLI2 were set to
Pituitary hormone deficiency v0.5 WDR11 Ivone Leong gene: WDR11 was added
gene: WDR11 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
Pituitary hormone deficiency v0.5 RBM28 Ivone Leong gene: RBM28 was added
gene: RBM28 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM28 were set to ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Pituitary hormone deficiency v0.5 POLR3A Ivone Leong gene: POLR3A was added
gene: POLR3A was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Pituitary hormone deficiency v0.5 HNRNPU Ivone Leong gene: HNRNPU was added
gene: HNRNPU was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54 (617391)
Pituitary hormone deficiency v0.5 HHIP Ivone Leong gene: HHIP was added
gene: HHIP was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: HHIP was set to Unknown
Phenotypes for gene: HHIP were set to No OMIM number
Pituitary hormone deficiency v0.5 GPR161 Ivone Leong gene: GPR161 was added
gene: GPR161 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: GPR161 was set to Unknown
Phenotypes for gene: GPR161 were set to No OMIM number
Pituitary hormone deficiency v0.5 CDON Ivone Leong gene: CDON was added
gene: CDON was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)
Pituitary hormone deficiency v0.5 TGIF1 Ivone Leong gene: TGIF1 was added
gene: TGIF1 was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4 (142946)
Pituitary hormone deficiency v0.5 PROKR2 Ivone Leong gene: PROKR2 was added
gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Pituitary hormone deficiency v0.5 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE syndrome (214800); Hypogonadotropic hypogonadism 5 with or without anosmia (612370)
Pituitary hormone deficiency v0.5 ZSWIM6 Ivone Leong gene: ZSWIM6 was added
gene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
Pituitary hormone deficiency v0.5 TCF7L1 Ivone Leong gene: TCF7L1 was added
gene: TCF7L1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TCF7L1 was set to Unknown
Phenotypes for gene: TCF7L1 were set to No OMIM number
Pituitary hormone deficiency v0.5 SHH Ivone Leong gene: SHH was added
gene: SHH was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Pituitary hormone deficiency v0.5 PNPLA6 Ivone Leong gene: PNPLA6 was added
gene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive (612020)
Pituitary hormone deficiency v0.5 IGSF1 Ivone Leong gene: IGSF1 was added
gene: IGSF1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888)
Pituitary hormone deficiency v0.5 BMP4 Ivone Leong gene: BMP4 was added
gene: BMP4 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)
Pituitary hormone deficiency v0.5 ARNT2 Ivone Leong gene: ARNT2 was added
gene: ARNT2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926)
Pituitary hormone deficiency v0.5 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia (106210)
Pituitary hormone deficiency v0.5 GLI3 Ivone Leong gene: GLI3 was added
gene: GLI3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Pituitary hormone deficiency v0.5 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150)
Pituitary hormone deficiency v0.5 FGF8 Ivone Leong gene: FGF8 was added
gene: FGF8 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Pituitary hormone deficiency v0.5 SOX3 Ivone Leong gene: SOX3 was added
gene: SOX3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000)
Pituitary hormone deficiency v0.5 SOX2 Ivone Leong gene: SOX2 was added
gene: SOX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)
Pituitary hormone deficiency v0.5 GLI2 Ivone Leong gene: GLI2 was added
gene: GLI2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Hereditary spastic paraplegia v1.110 ATXN7_CAG Louise Daugherty Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7 164500
Hereditary spastic paraplegia v1.109 ATXN3_CAG Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Early onset dystonia v1.68 ATXN3_CAG Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Hereditary neuropathy v1.48 ATXN3_CAG Louise Daugherty Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Intellectual disability v2.579 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Hereditary ataxia v1.148 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Thoracic dystrophies v1.5 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Skeletal dysplasia v1.135 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Parkinson Disease and Complex Parkinsonism v1.64 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia1 164400 to Spinocerebellar ataxia 1 164400
Hereditary spastic paraplegia v1.108 CACNA1A_CAG Louise Daugherty Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086
Brain channelopathy v1.46 CACNA1A_CAG Louise Daugherty Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086
Early onset dystonia v1.67 ATXN2_CAG Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Hereditary neuropathy v1.47 ATXN2_CAG Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45 ATXN2_CAG Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Hereditary spastic paraplegia v1.107 ATXN2_CAG Louise Daugherty Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Thoracic dystrophies v1.4 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Skeletal dysplasia v1.134 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Hereditary ataxia v1.147 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Early onset dystonia v1.66 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Intellectual disability v2.578 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Hereditary neuropathy v1.46 ATXN10_ATTCT Louise Daugherty Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10 603516
Hereditary neuropathy v1.45 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.44 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Hereditary spastic paraplegia v1.106 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Parkinson Disease and Complex Parkinsonism v1.63 ATXN1_CAG Louise Daugherty Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia1 164400
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as No list
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.577 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been removed from the panel.
Intellectual disability v2.576 PPP1R21 Konstantinos Varvagiannis gene: PPP1R21 was added
gene: PPP1R21 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 29808498; 28940097
Phenotypes for gene: PPP1R21 were set to Generalized hypotonia; Feeding difficulties; Profound global developmental delay; Abnormality of the face; Abnormality of vision; Abnormal heart morphology; Abnormality of the respiratory system; Hepatosplenomegaly
Penetrance for gene: PPP1R21 were set to Complete
Review for gene: PPP1R21 was set to GREEN
Added comment: Biallelic pathogenic variants in PPP1R21 have been reported so far in 9 individuals from 7 unrelated families. All (7 different) variants reported to date are truncating.

PMID: 29808498 is the first detailed clinical description on the related phenotype. 3 individuals from 3 families are reported. One of these individuals was previously included in a larger patient cohort (in PMID: 28940097).

In a subsequent further publication, Rehman et al. (https://doi.org/10.1002/humu.23694) describe 6 additional patients from 4 unrelated consanguineous families. Again, these individuals were homozygous for truncating mutations. The authors summarize the findings in their patients as well as the previously reported ones.

Common features included feeding difficulties, hypotonia with severe global DD and mildly coarsened facial features (all were observed in 9/9), visual anomalies (8/9), respiratory problems (7/9), cardiac anomalies (4/9) and hepato-/splenomegaly (3/7). Brain MRI anomalies were observed in the majority. DD was severe in all and ID (which is not explicitly mentioned) was evident from the clinical description of several individuals (eg. in PMID: 29808498).

In total 7 loss-of-function variants have been reported. The authors in the first article, underscore the possibility of less severe phenotypes associated to biallelic missense variants (although none has been reported so far).

Functional studies have shown great reduction (but not complete absence) of PPP1R21 mRNA levels in patient fibroblasts compared to controls. A role of PPP1R21 in the endosomal-lysosomal function is demonstrated in line with the presence of myelin figures in patient fibroblasts as well as some phenotypic similarities to neurometabolic/lysosomal storage disorders.

Most variants reported in the most recent publication except one (NM_001135629.2:c.1607dupT) seem to affect all 3 PPP1R21 isoforms (which also seems to be the case for previously published variants). c.1607dupT appears to be the single truncating variant affecting 2 (of 3) isoforms. This variant was however shown to have severely reduced expression in fibroblasts upon qPCR, absent protein staining, and increase in myelin figures.

The protein is expressed in embryonic mouse cortex.

Overall, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Hereditary spastic paraplegia v1.105 TBP_CAG Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.43 TBP_CAG Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Brain channelopathy v1.45 TBP_CAG Arianna Tucci Phenotypes for STR: TBP_CAG were changed from to Spinocerebellar ataxia 17 607136
Hereditary spastic paraplegia v1.104 PPP2R2B_CAG Arianna Tucci Phenotypes for STR: PPP2R2B_CAG were changed from to Spinocerebellar ataxia 12 604326
Parkinson Disease and Complex Parkinsonism v1.62 PPP2R2B_CAG Arianna Tucci Phenotypes for STR: PPP2R2B_CAG were changed from to Spinocerebellar ataxia 12 604326
Amyotrophic lateral sclerosis/motor neuron disease v1.26 NOP56_GGCCTG Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.42 NOP56_GGCCTG Arianna Tucci Phenotypes for STR: NOP56_GGCCTG were changed from to Spinocerebellar ataxia 36 614153
Early onset dystonia v1.65 JPH3_CTG Arianna Tucci Phenotypes for STR: JPH3_CTG were changed from to Huntington disease-like 2 606438
Hereditary ataxia v1.146 HTT_CAG Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.41 HTT_CAG Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Hereditary spastic paraplegia v1.103 HTT_CAG Arianna Tucci Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Hereditary ataxia v1.145 HTT_CAG Arianna Tucci Marked STR: HTT_CAG as ready
Hereditary ataxia v1.145 HTT_CAG Arianna Tucci Str: htt_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.44 CSTB_CCCCGCCCCGCG Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Early onset or syndromic epilepsy v0.1488 CSTB_CCCCGCCCCGCG Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Hereditary ataxia v1.145 CSTB_CCCCGCCCCGCG Arianna Tucci Phenotypes for STR: CSTB_CCCCGCCCCGCG were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Congenital muscular dystrophy v1.19 DMPK_CTG Arianna Tucci Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900
Mitochondrial disorders v1.75 DMPK_CTG Arianna Tucci Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900
Mitochondrial disorders v1.74 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Hereditary spastic paraplegia v1.102 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Hereditary neuropathy v1.44 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Pituitary hormone deficiency v0.4 OTX2 Ivone Leong Publications for gene: OTX2 were set to
Pituitary hormone deficiency v0.3 OTX2 Ivone Leong Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.3 OTX2 Ivone Leong Added comment: Comment when marking as ready: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2.
Pituitary hormone deficiency v0.3 OTX2 Ivone Leong Gene: otx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.3 PROP1 Ivone Leong commented on gene: PROP1
Pituitary hormone deficiency v0.3 POU1F1 Ivone Leong commented on gene: POU1F1
Pituitary hormone deficiency v0.3 LHX4 Ivone Leong commented on gene: LHX4
Pituitary hormone deficiency v0.3 LHX4 Ivone Leong Publications for gene: LHX4 were set to
Pituitary hormone deficiency v0.2 LHX3 Ivone Leong commented on gene: LHX3
Hereditary spastic paraplegia v1.101 CACNA1A_CAG Arianna Tucci Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086
Pituitary hormone deficiency v0.2 HESX1 Ivone Leong commented on gene: HESX1
Pituitary hormone deficiency v0.2 HESX1 Ivone Leong Publications for gene: HESX1 were set to
Brain channelopathy v1.43 CACNA1A_CAG Arianna Tucci Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086
Hereditary spastic paraplegia v1.100 ATXN7_CAG Arianna Tucci Phenotypes for STR: ATXN7_CAG were changed from to Spinocerebellar ataxia 7 164500
Pituitary hormone deficiency v0.1 PROP1 Ivone Leong gene: PROP1 was added
gene: PROP1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 (262600)
Pituitary hormone deficiency v0.1 LHX3 Ivone Leong gene: LHX3 was added
gene: LHX3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Pituitary hormone deficiency v0.1 HESX1 Ivone Leong gene: HESX1 was added
gene: HESX1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Pituitary hormone deficiency v0.1 POU1F1 Ivone Leong gene: POU1F1 was added
gene: POU1F1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1 (613038)
Pituitary hormone deficiency v0.1 OTX2 Ivone Leong gene: OTX2 was added
gene: OTX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Pituitary hormone deficiency v0.1 LHX4 Ivone Leong gene: LHX4 was added
gene: LHX4 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Hereditary spastic paraplegia v1.99 ATXN3_CAG Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
Hereditary neuropathy v1.43 ATXN3_CAG Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Hereditary neuropathy v1.42 ATXN3_CAG Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
Early onset dystonia v1.64 ATXN3_CAG Arianna Tucci Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.40 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Hereditary spastic paraplegia v1.98 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Hereditary neuropathy v1.41 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Hereditary neuropathy v1.41 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Early onset dystonia v1.63 ATXN2_CAG Arianna Tucci Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.39 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Hereditary spastic paraplegia v1.97 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Hereditary neuropathy v1.40 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Hereditary neuropathy v1.40 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Hereditary neuropathy v1.39 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Parkinson Disease and Complex Parkinsonism v1.61 ATXN1_CAG Arianna Tucci Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.38 ATXN10_ATTCT Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Hereditary spastic paraplegia v1.96 ATXN10_ATTCT Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Hereditary neuropathy v1.38 ATXN10_ATTCT Arianna Tucci Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Early onset or syndromic epilepsy v0.1487 ATN1_CAG Arianna Tucci Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 125370
Parkinson Disease and Complex Parkinsonism v1.60 ATN1_CAG Arianna Tucci Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 125370
Congenital myopathy v1.66 AR_CAG Arianna Tucci Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Distal myopathies v1.10 AR_CAG Arianna Tucci Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Pancreatitis v0.45 CFTR Ellen McDonagh Classified gene: CFTR as Green List (high evidence)
Pancreatitis v0.45 CFTR Ellen McDonagh Added comment: Comment on list classification: This gene has been promoted from Amber to Green, for the biallelic mode of inheritance, due to comments from Dr Ellen Thomas that exocrine pancreas dysfunction is an indication for diagnostic Cystic Fibrosis testing, and therefore this panel should cover the CFTR gene.
Pancreatitis v0.45 CFTR Ellen McDonagh Gene: cftr has been classified as Green List (High Evidence).
Pancreatitis v0.44 CFTR Ellen McDonagh Added comment: Comment on mode of inheritance: Changed to the biallelic form.
Pancreatitis v0.44 CFTR Ellen McDonagh Mode of inheritance for gene: CFTR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.133 ABL1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants in PMID:28288113).
Skeletal dysplasia v1.133 ABL1 Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal dysplasia v1.132 ABL1 Rebecca Foulger Classified gene: ABL1 as Amber List (moderate evidence)
Skeletal dysplasia v1.132 ABL1 Rebecca Foulger Gene: abl1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.131 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to Skeletal dysplasia. Sources: Literature
missense tags were added to gene: ABL1.
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602
Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added comment: Added to Skeletal dysplasia panel with Amber rating as suggested by Helen Brittain. Wang et al, 2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. They report 2 variants in 4 families (6 individuals). Helen Brittain, clinical fellow, notes that: "the broader skeletal manifestations (scoliosis / pectus) are classically thought of as part of the Marfan / FTAAD spectrum rather than a skeletal dysplasia. Therefore do not think that skeletal dysplasia (or limb panel) would be the primary route for diagnosis here and would opt for amber on the basis that we need to see the phenotype across other cases first."
Sources: Literature
Ehlers Danlos syndrome with a likely monogenic cause v1.38 ABL1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants).
Ehlers Danlos syndrome with a likely monogenic cause v1.38 ABL1 Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ehlers Danlos syndrome with a likely monogenic cause v1.37 ABL1 Rebecca Foulger Classified gene: ABL1 as Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.37 ABL1 Rebecca Foulger Added comment: Comment on list classification: Rated as Green as advised by Helen Brittain.
Ehlers Danlos syndrome with a likely monogenic cause v1.37 ABL1 Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v1.36 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to Ehlers Danlos syndromes. Sources: Literature
missense tags were added to gene: ABL1.
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602
Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ABL1 was set to GREEN
Added comment: Added ABL1 to EDS panel as requested by Helen Brittain, clinical fellow. Wang et al, 2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. 2 variants reported in 4 families, including c.734A>G (p.Tyr245Cys) found to occur in 3 famililes. Included on this EDS panel on advice from Helen Brittain: the kyphosis / scoliosis / velvety skin could overlap with the EDS syndromes panel as a mimic of kyphoscoliotic EDS.
Sources: Literature
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger commented on gene: ABL1: Added missense tag based on PMID:28288113.
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Tag missense tag was added to gene: ABL1.
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Classified gene: ABL1 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Red based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113.
Familial non syndromic congenital heart disease v1.36 ABL1 Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence).
Familial non syndromic congenital heart disease v1.35 ABL1 Rebecca Foulger Phenotypes for gene: ABL1 were changed from Autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations syndrome, 617602
Thoracic aortic aneurysm or dissection v1.81 ABL1 Rebecca Foulger Phenotypes for gene: ABL1 were changed from Congenital finger flexion contractures (HP:0005879); Congenital septal defect (HP:0004760); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Scoliosis (HP:0002650); Failure to thrive in infancy (HP:0001531); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767) to Congenital heart defects and skeletal malformations syndrome, 617602; Congenital finger flexion contractures (HP:0005879); Congenital septal defect (HP:0004760); Generalized joint laxity (HP:0002761); Ascending aortic dilation (HP:0004970); Scoliosis (HP:0002650); Failure to thrive in infancy (HP:0001531); Hypospadias (HP:0000047); Pectus excavatum (HP:0000767)
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger commented on gene: ABL1: Added 'missense' tag.
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Tag missense tag was added to gene: ABL1.
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Classified gene: ABL1 as Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. Gene was added by Chris Buxton based on evidence in PMID:28288113. Although CB rated the gene Red, mild aortic root dilation/mild coarctation of the aorta is seen in patients from 3 families. Therefore phenotype is relevant to panel and sufficient unrelated cases to support diagnostic rating, as agreed by Helen Brittain, clinical fellow.
Thoracic aortic aneurysm or dissection v1.80 ABL1 Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection v1.79 ABL1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants).
Thoracic aortic aneurysm or dissection v1.79 ABL1 Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Thoracic aortic aneurysm or dissection v1.78 ABL1 Rebecca Foulger commented on gene: ABL1
Pancreatitis v0.43 CFTR Ellen Thomas reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Marked gene: NDUFS6 as ready
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least two homozygous variants identified in two unrelated cases with abnormal, slowly drifting eye movements, rolling nystagmus, thought to indicate possible seizures, as well as overt seizures occurred on day 1 of life (PMID: 15372108). Other variants reported, but no association with epilepsy, seizures or convulsions could be found.
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1485 NDUFS6 Sarah Leigh Publications for gene: NDUFS6 were set to
Early onset or syndromic epilepsy v0.1484 NDUFS6 Sarah Leigh Mode of inheritance for gene: NDUFS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Marked gene: NDUFS4 as ready
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three biallelic variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Classified gene: NDUFS4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1482 NDUFS4 Sarah Leigh Mode of inheritance for gene: NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1481 NDUFS4 Sarah Leigh Publications for gene: NDUFS4 were set to 28371352; 27671926; 27079373; 19107570; 9463323
Distal myopathies v1.9 AR_CAG Arianna Tucci edited their review of STR: AR_CAG: Changed phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Congenital myopathy v1.65 AR_CAG Arianna Tucci edited their review of STR: AR_CAG: Changed phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Early onset dystonia v1.62 JPH3_CTG Arianna Tucci Repeated Sequence for JPH3_CTG was changed from CAG to CTG.
Early onset or syndromic epilepsy v0.1480 NDUFS4 Sarah Leigh Phenotypes for gene: NDUFS4 were changed from to Leigh syndrome 256000; Mitochondrial complex I deficiency 252010
Parkinson Disease and Complex Parkinsonism v1.59 ATN1_CAG Arianna Tucci Classified STR: ATN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.59 ATN1_CAG Arianna Tucci Str: atn1_cag has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1479 NDUFS4 Sarah Leigh Publications for gene: NDUFS4 were set to
Early onset or syndromic epilepsy v0.1478 NDUFA11 Sarah Leigh Classified gene: NDUFA11 as Red List (low evidence)
Early onset or syndromic epilepsy v0.1478 NDUFA11 Sarah Leigh Added comment: Comment on list classification: Based on single case and the observation that not all the carriers manifested with convulsive disorder
Early onset or syndromic epilepsy v0.1478 NDUFA11 Sarah Leigh Gene: ndufa11 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Marked gene: NDUFA11 as ready
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least one homozygous variant identified in a large consanguineous Bedoin family, convulsive disorder appeared at 4 months in one patient (PMID 18306244).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1477 NDUFA11 Sarah Leigh Publications for gene: NDUFA11 were set to
Early onset or syndromic epilepsy v0.1476 NDUFA11 Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v0.1476 NDUFA11 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1476 NDUFA11 Sarah Leigh Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Marked gene: LIPT2 as ready
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported in one case
in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Gene: lipt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1475 LIPT2 Sarah Leigh Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668
Early onset or syndromic epilepsy v0.1474 LIPT2 Sarah Leigh Mode of inheritance for gene: LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1473 LIPT2 Sarah Leigh Publications for gene: LIPT2 were set to
Early onset or syndromic epilepsy v0.1472 LIPT2 Sarah Leigh Tag watchlist tag was added to gene: LIPT2.
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Marked gene: KIAA1109 as ready
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene (although not for seizures in Gen2Phen). At least 2 variants reported in Lithuanian siblings with Alkuraya-Kucinskas syndrome in which seizures were a phenotypic feature (PMID 29290337). Rare drosophila idividuals that are homozygous for a "tweek" variant (ortholog KIAA1109) survive to adulthood and are unable to walk or stand upright for long periods, plus they exhibit seizures, suggestive of severe neurological defects and similar to the reported phenotype of the Lithuanian siblings mentioned (PMID 19640479).
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Gene: kiaa1109 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Tag watchlist tag was added to gene: KIAA1109.
Early onset or syndromic epilepsy v0.1472 KIAA1109 Sarah Leigh Mode of inheritance for gene: KIAA1109 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1471 KIAA1109 Sarah Leigh Phenotypes for gene: KIAA1109 were changed from to Alkuraya-Kucinskas syndrome 617822
Early onset or syndromic epilepsy v0.1470 KIAA1109 Sarah Leigh Publications for gene: KIAA1109 were set to
Early onset or syndromic epilepsy v0.1469 KAT5 Sarah Leigh Classified gene: KAT5 as Red List (low evidence)
Early onset or syndromic epilepsy v0.1469 KAT5 Sarah Leigh Added comment: Comment on list classification: Based on expert reviewers' comments.
Early onset or syndromic epilepsy v0.1469 KAT5 Sarah Leigh Gene: kat5 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1468 H3F3B Sarah Leigh Classified gene: H3F3B as Red List (low evidence)
Early onset or syndromic epilepsy v0.1468 H3F3B Sarah Leigh Added comment: Comment on list classification: Based on expert reviewers' comments
Early onset or syndromic epilepsy v0.1468 H3F3B Sarah Leigh Gene: h3f3b has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1467 H3F3A Sarah Leigh Classified gene: H3F3A as Red List (low evidence)
Early onset or syndromic epilepsy v0.1467 H3F3A Sarah Leigh Added comment: Comment on list classification: Based on expert reviewers' comments
Early onset or syndromic epilepsy v0.1467 H3F3A Sarah Leigh Gene: h3f3a has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1466 H3F3A Sarah Leigh Classified gene: H3F3A as Red List (low evidence)
Early onset or syndromic epilepsy v0.1466 H3F3A Sarah Leigh Gene: h3f3a has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1465 H3F3B Sarah Leigh Classified gene: H3F3B as Red List (low evidence)
Early onset or syndromic epilepsy v0.1465 H3F3B Sarah Leigh Gene: h3f3b has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Marked gene: GRIN2D as ready
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in five unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence).
Pneumothorax - familial v1.9 SMAD2 Louise Daugherty reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TSC2 Louise Daugherty reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TSC1 Louise Daugherty reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFB3 Louise Daugherty reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFB2 Louise Daugherty reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 SMAD3 Louise Daugherty reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 SLC25A24 Louise Daugherty reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 SERPINA1 Louise Daugherty reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 PRKG1 Louise Daugherty reviewed gene: PRKG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 MYLK Louise Daugherty reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 MYH11 Louise Daugherty reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 MFAP5 Louise Daugherty reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 LOX Louise Daugherty reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 HRAS Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 HLA-DRB1 Louise Daugherty reviewed gene: HLA-DRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 FOXE3 Louise Daugherty reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 FLCN Louise Daugherty reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 FBN1 Louise Daugherty reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 ELN Louise Daugherty reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 COL5A1 Louise Daugherty reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 CHST14 Louise Daugherty reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 BTNL2 Louise Daugherty reviewed gene: BTNL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 ADAMTS2 Louise Daugherty reviewed gene: ADAMTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 ACTA2 Louise Daugherty reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Mode of inheritance for gene: GRIN2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1463 GRIN2D Sarah Leigh Added comment: Comment on phenotypes: Epileptic encephalopathy, early infantile, 46 617162
Early onset or syndromic epilepsy v0.1463 GRIN2D Sarah Leigh Phenotypes for gene: GRIN2D were changed from to Epileptic encephalopathy, early infantile, 46 617162
Early onset or syndromic epilepsy v0.1462 GRIN2D Sarah Leigh Publications for gene: GRIN2D were set to
Early onset or syndromic epilepsy v0.1461 GRIN2D Sarah Leigh Classified gene: GRIN2D as Green List (high evidence)
Early onset or syndromic epilepsy v0.1461 GRIN2D Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence).
Pneumothorax - familial v1.8 SMAD2 Louise Daugherty gene: SMAD2 was added
gene: SMAD2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: SMAD2 was set to
Pneumothorax - familial v1.8 TSC2 Louise Daugherty Source NHS GMS was added to TSC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TSC1 Louise Daugherty Source NHS GMS was added to TSC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFBR2 Louise Daugherty Source NHS GMS was added to TGFBR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFBR1 Louise Daugherty Source NHS GMS was added to TGFBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFB3 Louise Daugherty Source NHS GMS was added to TGFB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFB2 Louise Daugherty Source NHS GMS was added to TGFB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 SMAD3 Louise Daugherty Source NHS GMS was added to SMAD3.
Pneumothorax - familial v1.8 SLC25A24 Louise Daugherty gene: SLC25A24 was added
gene: SLC25A24 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: SLC25A24 was set to
Pneumothorax - familial v1.8 SERPINA1 Louise Daugherty Source NHS GMS was added to SERPINA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 PRKG1 Louise Daugherty gene: PRKG1 was added
gene: PRKG1 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: PRKG1 was set to
Pneumothorax - familial v1.8 MYLK Louise Daugherty gene: MYLK was added
gene: MYLK was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: MYLK was set to
Pneumothorax - familial v1.8 MYH11 Louise Daugherty gene: MYH11 was added
gene: MYH11 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: MYH11 was set to
Pneumothorax - familial v1.8 MFAP5 Louise Daugherty gene: MFAP5 was added
gene: MFAP5 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: MFAP5 was set to
Pneumothorax - familial v1.8 LOX Louise Daugherty gene: LOX was added
gene: LOX was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: LOX was set to
Pneumothorax - familial v1.8 HRAS Louise Daugherty gene: HRAS was added
gene: HRAS was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: HRAS was set to
Pneumothorax - familial v1.8 HLA-DRB1 Louise Daugherty gene: HLA-DRB1 was added
gene: HLA-DRB1 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: HLA-DRB1 was set to
Pneumothorax - familial v1.8 FOXE3 Louise Daugherty gene: FOXE3 was added
gene: FOXE3 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: FOXE3 was set to
Pneumothorax - familial v1.8 FLCN Louise Daugherty Source NHS GMS was added to FLCN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 FBN1 Louise Daugherty Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 ELN Louise Daugherty Source NHS GMS was added to ELN.
Pneumothorax - familial v1.8 COL5A1 Louise Daugherty gene: COL5A1 was added
gene: COL5A1 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: COL5A1 was set to
Pneumothorax - familial v1.8 COL3A1 Louise Daugherty Source NHS GMS was added to COL3A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 CHST14 Louise Daugherty gene: CHST14 was added
gene: CHST14 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: CHST14 was set to
Pneumothorax - familial v1.8 BTNL2 Louise Daugherty gene: BTNL2 was added
gene: BTNL2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: BTNL2 was set to
Pneumothorax - familial v1.8 ADAMTS2 Louise Daugherty gene: ADAMTS2 was added
gene: ADAMTS2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: ADAMTS2 was set to
Pneumothorax - familial v1.8 ACTA2 Louise Daugherty gene: ACTA2 was added
gene: ACTA2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: ACTA2 was set to
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Marked gene: GNAQ as ready
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least one variant (rs397514698) was identified in at least 12/15 cases of Sturge-Weber syndrome, somatic, mosaic, 185300 (PMID 25374402). The percentage of the gain of function variant in brain tissues of these 12 patients ranged from 3.6 to 8.9%.
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Gene: gnaq has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Classified gene: GNAQ as Green List (high evidence)
Early onset or syndromic epilepsy v0.1460 GNAQ Sarah Leigh Gene: gnaq has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1459 AIMP1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from monoallelic to biallelic to match OMIM, Gene2Phenotype, and other relevant panels.
Early onset or syndromic epilepsy v0.1459 AIMP1 Rebecca Foulger Mode of inheritance for gene: AIMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1458 GNAQ Sarah Leigh Publications for gene: GNAQ were set to
Early onset or syndromic epilepsy v0.1457 GRIN2D Konstantinos Varvagiannis reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616483, 30280376; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pancreatitis v0.43 MORC4 Ellen McDonagh edited their review of gene: MORC4: Changed rating: RED
Pancreatitis v0.43 SPINK1 Ellen McDonagh commented on gene: SPINK1
Pancreatitis v0.43 PRSS1 Ellen McDonagh commented on gene: PRSS1
Pulmonary arterial hypertension v1.39 TBX4 Louise Daugherty edited their review of gene: TBX4: Added comment: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: TBX4; Suggested initial gene rating: Green; Evidence for inclusion: Small patella syndrome & PAH in children (PMID: 23592887 ); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Pulmonary arterial hypertension v1.39 SOX17 Louise Daugherty commented on gene: SOX17: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SOX17; Suggested initial gene rating: Green; Evidence for inclusion: PMID:29650961. Graf et al (2018); PMID:30044643 & 30029678, de novo & segregation cases, emerging gene at recent PAH conferences, see PanelApp.; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Pulmonary arterial hypertension v1.39 SMAD9 Louise Daugherty commented on gene: SMAD9: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SMAD9; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Pulmonary arterial hypertension v1.39 SARS2 Louise Daugherty reviewed gene: SARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pulmonary arterial hypertension v1.39 KCNK3 Louise Daugherty commented on gene: KCNK3: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: KCNK3; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Pulmonary arterial hypertension v1.39 GDF2 Louise Daugherty commented on gene: GDF2: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: GDF2; Suggested initial gene rating: Green; Evidence for inclusion: HHT gene; some cases described w/ PAH; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Pulmonary arterial hypertension v1.39 ENG Louise Daugherty commented on gene: ENG: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ENG; Suggested initial gene rating: Green; Evidence for inclusion: HHT gene; some cases described w/ PAH; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Multiple promoter/UTR mutations, needs to be covered.
Pulmonary arterial hypertension v1.39 EIF2AK4 Louise Daugherty commented on gene: EIF2AK4: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: EIF2AK4; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Pulmonary venoocclusive disease 2; causes PAH.; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Pulmonary arterial hypertension v1.39 CAV1 Louise Daugherty edited their review of gene: CAV1: Added comment: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CAV1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: Severe infantile syndrome, PAH unlikely to be presenting feature; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Pulmonary arterial hypertension v1.39 BMPR2 Louise Daugherty commented on gene: BMPR2: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: BMPR2; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Causative of majority of cases
Pulmonary arterial hypertension v1.39 ATP13A3 Louise Daugherty edited their review of gene: ATP13A3: Added comment: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ATP13A3; Suggested initial gene rating: Amber; Evidence for inclusion: PMID: 29650961 Graf et al (2018), further evidence from BRIDGE study (see PanelApp); Evidence for exclusion: BRIDGE evidence not yet published; data in Graf et al. not yet convincing.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: AMBER
Pulmonary arterial hypertension v1.39 AQP1 Louise Daugherty commented on gene: AQP1: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: AQP1; Suggested initial gene rating: Amber; Evidence for inclusion: PMID: 29650961. Graf et al (2018); Evidence for exclusion: Only three families, no convincing functional evidence.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Pulmonary arterial hypertension v1.39 ACVRL1 Louise Daugherty commented on gene: ACVRL1: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ACVRL1; Suggested initial gene rating: Green; Evidence for inclusion: HHT gene; some cases described w/ PAH; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Intellectual disability v2.576 GRIN2D Konstantinos Varvagiannis gene: GRIN2D was added
gene: GRIN2D was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIN2D were set to 27616483; 30280376
Phenotypes for gene: GRIN2D were set to Epileptic encephalopathy, early infantile, 46 (MIM 617162)
Penetrance for gene: GRIN2D were set to unknown
Review for gene: GRIN2D was set to GREEN
gene: GRIN2D was marked as current diagnostic
Added comment: Heterozygous pathogenic variants in GRIN2D cause Epileptic encephalopathy, early infantile, 46 (MIM 617162).

As commented in the previous review, PMID: 27616483 is the first report on 2 unrelated individuals with severe epileptic encephalopathy (onset of seizures at the age of 2 and 4 months). Severe DD with ID was noted in both.

Each of these individuals were heterozygous for the same missense variant (NM_000836.2:c.1999G>A p.Val667Ile) as a de novo event. Functional studies demonstrated a gain-of-function effect.

GRIN2D encodes for an NMDA receptor subunit, and the gain-of-function effect shown for this variant suggests that NMDAR antagonists might be useful as adjuvant therapy (some improvement noted in both individuals).

[The mode of pathogenicity selected here may be modified as more evidence on further variants becomes available. GRIN2D appears to be intolerant also to LoF mutations with a pLI of 1. Both LoF and GoF mutations have been described for genes encoding other NMDAR subunits].

PMID: 30280376 reports on 3 additional unrelated patients with developmental and epileptic encephalopathy and pathogenic or likely pathogenic missense variants in GRIN2D.

Three additional missense variants are reported (Met681Ile, Ser694Arg, Asp449Asn). Parental studies were possible only for the patient with Met681Ile (de novo) as well as for the individual with Ser694Arg (only one parent available though).

Significant developmental delay was evident in all prior to the onset of seizures (1m/2y/3y respectively) and subsequent developmental stagnation/regression with ID.

The phenotype of these 3 individuals as well as of the 2 previously described is summarized in table 1 of the latter article.

GRIN2D is a probable DD gene in G2P and is included in gene panels for ID offered by diagnostic laboratories.

Several other genes for NMDA receptor subunits (eg. GRIN2A, GRIN2B, GRIN1) and relevant/similar phenotypes are included in this panel as green.

As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Pancreatitis v0.43 MORC4 Ellen McDonagh commented on gene: MORC4
Pancreatitis v0.43 MORC4 Ellen McDonagh gene: MORC4 was added
gene: MORC4 was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: MORC4 was set to Unknown
Publications for gene: MORC4 were set to 29884332; 29173301; 28754779; 26820620; 26784911; 26002935; 25253127; 23143602; 28754779; 24002981
Pancreatitis v0.42 CLDN2 Ellen McDonagh edited their review of gene: CLDN2: Changed rating: RED
Pancreatitis v0.42 CXCL8 Ellen McDonagh edited their review of gene: CXCL8: Added comment: In a publicaton search, could not find evidence for variants in this gene to be causative of pancreatitis.; Changed rating: RED
Pancreatitis v0.42 PRSS2 Ellen McDonagh Deleted their comment
Pancreatitis v0.42 CTSB Ellen McDonagh Added comment: Comment on publications: Polymorphisms in this gene have been associated with pancreatitis or tropical calcific pancreatitis, and the cathepsin B gene is involved in the pathology of pancreatitis (see publications). There does not seem to be enough evidence at this time for rare loss of function variants in this gene to be causative of hereditary pancreatitis.
Pancreatitis v0.42 CTSB Ellen McDonagh Publications for gene: CTSB were set to 30455353; 30134826; 29229780; 29079517; 27226576; 22580415; 19900452; 16492714; 10995788
Pulmonary arterial hypertension v1.38 TBX4 Louise Daugherty Source NHS GMS was added to TBX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 SOX17 Louise Daugherty Source NHS GMS was added to SOX17.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 SMAD9 Louise Daugherty Source NHS GMS was added to SMAD9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 SARS2 Louise Daugherty gene: SARS2 was added
gene: SARS2 was added to Pulmonary arterial hypertension. Sources: NHS GMS
Mode of inheritance for gene: SARS2 was set to
Pulmonary arterial hypertension v1.38 KCNK3 Louise Daugherty Source NHS GMS was added to KCNK3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 GDF2 Louise Daugherty Source NHS GMS was added to GDF2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 ENG Louise Daugherty Source NHS GMS was added to ENG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 EIF2AK4 Louise Daugherty Source NHS GMS was added to EIF2AK4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 CAV1 Louise Daugherty Source NHS GMS was added to CAV1.
Pulmonary arterial hypertension v1.38 BMPR2 Louise Daugherty Source NHS GMS was added to BMPR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 ATP13A3 Louise Daugherty Source NHS GMS was added to ATP13A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension v1.38 AQP1 Louise Daugherty Source NHS GMS was added to AQP1.
Pulmonary arterial hypertension v1.38 ACVRL1 Louise Daugherty Source NHS GMS was added to ACVRL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v0.42 CTSB Ellen McDonagh edited their review of gene: CTSB: Changed rating: RED
Pancreatitis v0.42 CTSB Ellen McDonagh Added comment: Comment on publications: Polymorphisms in this gene have been associated with pancreatitis or tropical calcific pancreatitis, and the cathepsin B gene is involved in the pathology of pancreatitis (see publications). There does not seem to be enough evidence at this time for rare loss of function variants in this gene to be causative of hereditary pancreatitis.
Pancreatitis v0.42 CTSB Ellen McDonagh Publications for gene: CTSB were set to 30455353
Pancreatitis v0.41 CTSB Ellen McDonagh Added comment: Comment on publications: PMID: 30455353 - CTSC-deletion in mild and severe pancreatitis in vivo models was found to reduce the severity of pancreatitis compared to control mice.
Pancreatitis v0.41 CTSB Ellen McDonagh Publications for gene: CTSB were set to
Pancreatitis v0.40 CLDN2 Ellen McDonagh Publications for gene: CLDN2 were set to 29884332; 29173301; 28754779; 26820620; 26784911; 26002935; 25253127; 23143602; 28754779
Pancreatitis v0.39 CLDN2 Ellen McDonagh Publications for gene: CLDN2 were set to 29884332; 29173301; 28754779; 26820620; 26784911; 26002935; 25253127; 23143602
Limb disorders v0.351 ABL1 Eleanor Williams Classified gene: ABL1 as Amber List (moderate evidence)
Limb disorders v0.351 ABL1 Eleanor Williams Added comment: Comment on list classification: Downgraded to Amber on advice from Genomics England clinical team.
Limb disorders v0.351 ABL1 Eleanor Williams Gene: abl1 has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.38 CLDN2 Ellen McDonagh Added comment: Comment on publications: Common polymorphisms at the CLDN2-MORC4 loci have been associated with chronic pancreatitis in numerous studies (see publications listed).
Pancreatitis v0.38 CLDN2 Ellen McDonagh Publications for gene: CLDN2 were set to
Early onset or syndromic epilepsy v0.1457 GNAQ Sarah Leigh Added comment: Comment on mode of pathogenicity: Somatic gain of function
Early onset or syndromic epilepsy v0.1457 GNAQ Sarah Leigh Mode of pathogenicity for gene: GNAQ was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Pancreatitis v0.37 CEL Ellen McDonagh edited their review of gene: CEL: Changed rating: RED
Early onset or syndromic epilepsy v0.1456 GNAQ Sarah Leigh Mode of inheritance for gene: GNAQ was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.37 CEL Ellen McDonagh Publications for gene: CEL were set to 29233499
Pancreatitis v0.36 CEL Ellen McDonagh Added comment: Comment on publications: PMID: 29233499 - suggests CEL is an interesting candidate gene links to pancreatic disease; a recombined allele between CEL and its pseudogene CELP has been discovered which encodes a chimeric protein with impaired secretion increasing the risk for chronic pancreatitis five-fold.
Pancreatitis v0.36 CEL Ellen McDonagh Publications for gene: CEL were set to
Hereditary haemorrhagic telangiectasia v1.34 BMPR2 Louise Daugherty Source NHS GMS was added to BMPR2.
Hereditary haemorrhagic telangiectasia v1.34 GDF2 Louise Daugherty Source NHS GMS was added to GDF2.
Hereditary haemorrhagic telangiectasia v1.34 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v1.34 ENG Louise Daugherty Source NHS GMS was added to ENG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v1.34 ACVRL1 Louise Daugherty Source NHS GMS was added to ACVRL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v0.1455 NDUFS2 Eleanor Williams Marked gene: NDUFS2 as ready
Early onset or syndromic epilepsy v0.1455 NDUFS2 Eleanor Williams Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1455 NDUFS2 Eleanor Williams Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1454 NDUFS2 Eleanor Williams Publications for gene: NDUFS2 were set to
Early onset or syndromic epilepsy v0.1453 NDUFS2 Eleanor Williams Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v0.35 CCL2 Ellen McDonagh edited their review of gene: CCL2: Changed rating: RED
Early onset or syndromic epilepsy v0.1452 NDUFS2 Eleanor Williams Classified gene: NDUFS2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1452 NDUFS2 Eleanor Williams Added comment: Comment on list classification: Keep as Amber. Although there are sufficient cases to associate this gene with Mitochondrial complex I deficiency there is only 1 report of a patient with seizures.
Early onset or syndromic epilepsy v0.1452 NDUFS2 Eleanor Williams Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1451 NDUFS2 Eleanor Williams commented on gene: NDUFS2
Pancreatitis v0.35 CCL2 Ellen McDonagh Added comment: Comment on publications: PMID: 23449669 - CCL2 knockout exacerbates chronic pancreatitis.
Pancreatitis v0.35 CCL2 Ellen McDonagh Publications for gene: CCL2 were set to
Pancreatitis v0.34 PRSS2 Ellen McDonagh commented on gene: PRSS2: Could not find evidence for an association with inherited pancreatitis.
Early onset or syndromic epilepsy v0.1451 GNAQ Sarah Leigh Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic, 185300
Pancreatitis v0.34 PRSS2 Ellen McDonagh edited their review of gene: PRSS2: Changed rating: RED
Pancreatitis v0.34 CTRC Ellen McDonagh Classified gene: CTRC as Amber List (moderate evidence)
Pancreatitis v0.34 CTRC Ellen McDonagh Added comment: Comment on list classification: Demoting this gene from Green to Amber as it seems to be a susceptibility gene, rather than an isolated cause of inherited pancreatitis.
Pancreatitis v0.34 CTRC Ellen McDonagh Gene: ctrc has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1450 GFM1 Sarah Leigh Classified gene: GFM1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1450 GFM1 Sarah Leigh Gene: gfm1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Marked gene: GFM1 as ready
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in at least three unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Gene: gfm1 has been classified as Amber List (Moderate Evidence).
Pancreatitis v0.31 PRSS2 Ellen McDonagh Added comment: Comment on publications: PMID: 16699518 - the G191R variant in this gene is deemed protective against chronic pancreatitis.
Pancreatitis v0.31 PRSS2 Ellen McDonagh Publications for gene: PRSS2 were set to 25253127; 23143602; 27846138; 26784911; 26002935; 26110235; 29884332; 19052022; 15776435; 16699518; 14695529
Pancreatitis v0.30 PRSS2 Ellen McDonagh Phenotypes for gene: PRSS2 were changed from to {Pancreatitis, chronic, protection against} 167800
Early onset or syndromic epilepsy v0.1449 GFM1 Sarah Leigh Mode of inheritance for gene: GFM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1448 GFM1 Sarah Leigh Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 609060
Pancreatitis v0.29 PRSS2 Ellen McDonagh Added comment: Comment on publications: PMID: 14695529 - a mutation in PRSS1 causes increased transactivation of PRSS2.
Pancreatitis v0.29 PRSS2 Ellen McDonagh Publications for gene: PRSS2 were set to 25253127; 23143602; 27846138; 26784911; 26002935; 26110235; 29884332; 19052022; 15776435; 16699518; 18362849; 14695529
Pancreatitis v0.29 PRSS2 Ellen McDonagh Added comment: Comment on publications: PMID: 14695529 - a mutation in PRSS1 causes increased transactivation of PRSS2.
Pancreatitis v0.29 PRSS2 Ellen McDonagh Publications for gene: PRSS2 were set to 25253127; 23143602; 27846138; 26784911; 26002935; 26110235; 29884332; 19052022; 15776435; 16699518
Pancreatitis v0.28 PRSS2 Ellen McDonagh Added comment: Comment on publications: Multiple association studies for PRSS1-PRSS2 locus and chronic pancreatitis, tropical calfific pancreatitis, acute pancreatitis, alcoholic and non-alcoholic pancreatitis, sporadic pancreatitis.
Pancreatitis v0.28 PRSS2 Ellen McDonagh Publications for gene: PRSS2 were set to
Hereditary haemorrhagic telangiectasia v1.33 BMPR2 Louise Daugherty Classified gene: BMPR2 as Red List (low evidence)
Hereditary haemorrhagic telangiectasia v1.33 BMPR2 Louise Daugherty Gene: bmpr2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1447 GFM1 Sarah Leigh Publications for gene: GFM1 were set to
Pancreatitis v0.27 CXCL8 Ellen McDonagh commented on gene: CXCL8
Pancreatitis v0.27 CTSB Ellen McDonagh commented on gene: CTSB
Early onset or syndromic epilepsy v0.1446 DPM2 Sarah Leigh Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu 615042
Early onset or syndromic epilepsy v0.1445 DPM2 Sarah Leigh Publications for gene: DPM2 were set to
Pancreatitis v0.27 CASR Ellen McDonagh commented on gene: CASR: Variants in this gene seem to be a possible risk factor, unclear currently whether variants in this gene in isolation are causative of pancreatitis.
Early onset or syndromic epilepsy v0.1444 DPM2 Sarah Leigh Mode of inheritance for gene: DPM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v0.27 CASR Ellen McDonagh Added comment: Comment on publications: PMID: 26166472 - Overrepresentation of Rare CASR Coding Variants in a Sample of Young French Patients With Idiopathic Chronic Pancreatitis. PMID: 18680227 - case-control study in 57 patients and 21 controls found the R990G polymorphism was significantly associated with chronic pancreatitis (OR, 2.01; 95% CI, 1.12-3.59; P = 0.015).
Pancreatitis v0.27 CASR Ellen McDonagh Publications for gene: CASR were set to 29173301; 17853337
Early onset or syndromic epilepsy v0.1443 COX15 Sarah Leigh Mode of inheritance for gene: COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1442 COX15 Sarah Leigh Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 615119; Leigh syndrome 256000
Early onset or syndromic epilepsy v0.1441 COX15 Sarah Leigh Publications for gene: COX15 were set to
Pancreatitis v0.26 CASR Ellen McDonagh Added comment: Comment on publications: PMID: 29173301 - 5 children with variants in this gene with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP) were identified in next-generation sequencing of 10 genes, but unclear from the abstract whether these were considered diagnostic.
PMID: 17853337 - CASR gene was examined in patients with pancreatitis in primary hyperparathyroidism and no assoication with variants in this gene was found.
Pancreatitis v0.26 CASR Ellen McDonagh Publications for gene: CASR were set to
Early onset or syndromic epilepsy v0.1440 COG6 Sarah Leigh Mode of inheritance for gene: COG6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1439 COG6 Sarah Leigh Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type Iil 614576
Early onset or syndromic epilepsy v0.1439 COG6 Sarah Leigh Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil 614576
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Marked gene: CNPY3 as ready
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least three variants identified in two unrelated cases.
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Gene: cnpy3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Tag watchlist tag was added to gene: CNPY3.
Early onset or syndromic epilepsy v0.1438 CNPY3 Sarah Leigh Publications for gene: CNPY3 were set to
Early onset or syndromic epilepsy v0.1437 CNPY3 Sarah Leigh Mode of inheritance for gene: CNPY3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1436 CNPY3 Sarah Leigh Phenotypes for gene: CNPY3 were changed from to Epileptic encephalopathy, early infantile, 60 617929
Pancreatitis v0.25 CTRB1 Ellen McDonagh edited their review of gene: CTRB1: Changed rating: RED
Hereditary haemorrhagic telangiectasia v1.32 BMPR2 Louise Daugherty reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 GDF2 Louise Daugherty reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 ENG Louise Daugherty reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia v1.32 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v0.25 CTRB1 Ellen McDonagh Added comment: Comment on publications: PMID: 30076839 - an induced pancreatitis in vivo model revealed that CTRB1-deficient mice given cerulein had significant increases in intrapancreatic trypsin activity and developed more severe pancreatitis compared with control mice. The authors suggest that CTRB1 protects against secretagogue-induced pancreatitis by reducing trypsin activity.
Pancreatitis v0.25 CTRB1 Ellen McDonagh Publications for gene: CTRB1 were set to 28754779; 28951524
Hereditary haemorrhagic telangiectasia v1.31 BMPR2 Louise Daugherty gene: BMPR2 was added
gene: BMPR2 was added to Hereditary haemorrhagic telangiectasia. Sources:
Mode of inheritance for gene: BMPR2 was set to
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Marked gene: NDUFV1 as ready
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least six variants reported in at least three unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Gene: ndufv1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Classified gene: NDUFV1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Added comment: Comment on list classification: Sufficient variants in unrelated cases displaying seizures.
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Gene: ndufv1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1434 NDUFV1 Sarah Leigh Mode of inheritance for gene: NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1433 NDUFV1 Sarah Leigh Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency 252010
Pancreatitis v0.24 CTRB1 Ellen McDonagh Publications for gene: CTRB1 were set to
Pancreatitis v0.23 CTRB1 Ellen McDonagh commented on gene: CTRB1: PMID: 28754779 - identified CTRB1-CTRB2 as a new risk locus for alcoholic chronic pancreatitis and non-alcoholic chronic pancreatitis. A 16.6 kb inversion in the CTRB1-CTRB2 locus was in linkage disequilibrium with the CP-associated SNPs and was best tagged by rs8048956, reported to changes the expression ratio of the CTRB1 and CTRB2 isoforms and thereby affects protective trypsinogen degradation and ultimately pancreatitis risk. PMID: 28951524 found no association in the Chinese population. Not enough evidence at this time for this to be a cause of monogenic pancreatitis.
Pancreatitis v0.23 CTRB2 Ellen McDonagh Phenotypes for gene: CTRB2 were changed from to risk factor for alcoholic and non-alcoholic chronic pancreatitis
Pancreatitis v0.22 CTRB2 Ellen McDonagh Publications for gene: CTRB2 were set to
Pancreatitis v0.21 CTRB2 Ellen McDonagh reviewed gene: CTRB2: Rating: RED; Mode of pathogenicity: None; Publications: 28754779, 28951524; Phenotypes: risk factor for alcoholic/non-alcoholic chronic pancreatitis; Mode of inheritance: None
Early onset or syndromic epilepsy v0.1432 NDUFV1 Sarah Leigh Publications for gene: NDUFV1 were set to
Pancreatitis v0.21 CTRB1 Ellen McDonagh commented on gene: CTRB1
Pancreatitis v0.21 CLDN2 Ellen McDonagh commented on gene: CLDN2
Pancreatitis v0.21 CEL Ellen McDonagh commented on gene: CEL
Pancreatitis v0.21 CCL2 Ellen McDonagh commented on gene: CCL2
Pancreatitis v0.21 CASR Ellen McDonagh reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v0.1431 NDUFV1 Eleanor Williams reviewed gene: NDUFV1: Rating: ; Mode of pathogenicity: None; Publications: 25615419; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v0.1431 COG8 Sarah Leigh Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh 611182
Early onset or syndromic epilepsy v0.1430 COG8 Sarah Leigh Publications for gene: COG8 were set to
Early onset or syndromic epilepsy v0.1429 COG8 Sarah Leigh Mode of inheritance for gene: COG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1428 NDUFS1 Eleanor Williams Marked gene: NDUFS1 as ready
Early onset or syndromic epilepsy v0.1428 NDUFS1 Eleanor Williams Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1428 MAP2K2 Sarah Leigh Mode of inheritance for gene: MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1427 NDUFS1 Eleanor Williams Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, 252010; LEIGH SYNDROME; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Early onset or syndromic epilepsy v0.1426 NDUFS1 Eleanor Williams Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1425 NDUFS1 Eleanor Williams Publications for gene: NDUFS1 were set to
Early onset or syndromic epilepsy v0.1424 NDUFS1 Eleanor Williams Classified gene: NDUFS1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1424 NDUFS1 Eleanor Williams Added comment: Comment on list classification: Keeping this gene amber on this panel, because although there are enough cases to associate the gene with the disease possible epilepsy/seizures have only been observed in 2 cases.
Early onset or syndromic epilepsy v0.1424 NDUFS1 Eleanor Williams Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1423 NDUFS1 Eleanor Williams commented on gene: NDUFS1
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Marked gene: SCO2 as ready
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported as compound heterozygotes in three unrelated cases of Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 in which seizures were a phenotypic feature. It appears from the literature that seizures are not commonly reported in this phenotype (PMIDs 14994243, 12020273).
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Gene: sco2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Classified gene: SCO2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1423 SCO2 Sarah Leigh Gene: sco2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1422 NDUFAF5 Eleanor Williams Marked gene: NDUFAF5 as ready
Early onset or syndromic epilepsy v0.1422 NDUFAF5 Eleanor Williams Gene: ndufaf5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1422 SCO2 Sarah Leigh Publications for gene: SCO2 were set to 10545952; 10749987
Early onset or syndromic epilepsy v0.1421 NDUFAF5 Eleanor Williams Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex 1 deficiency 252010
Early onset or syndromic epilepsy v0.1420 NDUFAF5 Eleanor Williams Publications for gene: NDUFAF5 were set to
Early onset or syndromic epilepsy v0.1419 NDUFAF5 Eleanor Williams Mode of inheritance for gene: NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1418 NDUFAF5 Eleanor Williams Classified gene: NDUFAF5 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1418 NDUFAF5 Eleanor Williams Added comment: Comment on list classification: Variants in this gene reported in more than 3 families with affected individuals. Seizures seen in 5 families.
Early onset or syndromic epilepsy v0.1418 NDUFAF5 Eleanor Williams Gene: ndufaf5 has been classified as Green List (High Evidence).
DDG2P v0.18 SAMD9 Rebecca Foulger commented on gene: SAMD9
DDG2P v0.18 LRRC56 Rebecca Foulger commented on gene: LRRC56
DDG2P v0.18 CACNA1E Rebecca Foulger commented on gene: CACNA1E
DDG2P v0.18 SAMD9 Rebecca Foulger gene: SAMD9 was added
gene: SAMD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SAMD9 was set to
Publications for gene: SAMD9 were set to 28346228; 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
DDG2P v0.18 LRRC56 Rebecca Foulger gene: LRRC56 was added
gene: LRRC56 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRRC56 was set to
Phenotypes for gene: LRRC56 were set to Mucociliary Clearance and Laterality Defects
DDG2P v0.18 CACNA1E Rebecca Foulger gene: CACNA1E was added
gene: CACNA1E was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 30343943
Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Classified STR: FMR1_CGG as No list
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Hereditary ataxia v1.144 FMR1_CGG Louise Daugherty Str: fmr1_cgg has been removed from the panel.
Primary ovarian insufficiency v1.14 FMR1_CGG Louise Daugherty Classified STR: FMR1_CGG as No list
Primary ovarian insufficiency v1.14 FMR1_CGG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Primary ovarian insufficiency v1.14 FMR1_CGG Louise Daugherty Str: fmr1_cgg has been removed from the panel.
Fetal anomalies v0.7 ATP1A3 Rebecca Foulger Deleted their comment
Fetal anomalies v0.7 ANO5 Rebecca Foulger Deleted their comment
Fetal anomalies v0.7 RET Rebecca Foulger Deleted their comment
Intellectual disability v2.575 C9orf72_GGGGCC Louise Daugherty Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Fetal anomalies v0.7 TIMM8A Rebecca Foulger reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 THAP1 Rebecca Foulger reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 TGFB2 Rebecca Foulger reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SYNE1 Rebecca Foulger reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Rating in original PAGE file: 'both DD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
Fetal anomalies v0.7 SNORD118 Rebecca Foulger reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Rating in original PAGE file: 'both DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome
Fetal anomalies v0.7 SLC4A11 Rebecca Foulger reviewed gene: SLC4A11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Rating in original PAGE file: 'both DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD and RENAL TUBULAR ACIDOSIS, DISTAL, AR.
Fetal anomalies v0.7 RRM2B Rebecca Foulger reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 RET Rebecca Foulger commented on gene: RET: Rating in original PAGE file: 'both DD and IF' for RENAL AGENESIS and MULTIPLE ENDOCRINE NEOPLASIA IIB.
Fetal anomalies v0.7 POLD1 Rebecca Foulger commented on gene: POLD1: Rating in original PAGE file: 'both DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Fetal anomalies v0.7 PLA2G6 Rebecca Foulger reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 PDCD10 Rebecca Foulger reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 NR5A1 Rebecca Foulger commented on gene: NR5A1: Rating in original PAGE file: 'both DD and IF' for 46XY SEX REVERSAL 3 and SPERMATOGENIC FAILURE 8.
Fetal anomalies v0.7 MYO7A Rebecca Foulger reviewed gene: MYO7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 MYH8 Rebecca Foulger commented on gene: MYH8: Rating in original PAGE file: 'both DD and IF' for CARNEY COMPLEX VARIANT and DISTAL ARTHROGRYPOSIS TYPE.
Fetal anomalies v0.7 MYH6 Rebecca Foulger commented on gene: MYH6: Rating in original PAGE file: 'both DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3, CARDIOMYOPATHY DILATED TYPE 1EE and CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
Fetal anomalies v0.7 LMNA Rebecca Foulger commented on gene: LMNA: Rating in original PAGE file: 'both DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, HUTCHINSON-GILFORD PROGERIA SYNDROME, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B, LETHAL TIGHT SKIN CONTRACTURE SYNDROME and HEART-HAND SYNDROME SLOVENIAN TYPE.
Fetal anomalies v0.7 LDB3 Rebecca Foulger commented on gene: LDB3: Rating in original PAGE file: 'both DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3 and CARDIOMYOPATHY DILATED TYPE 1C and MYOPATHY MYOFIBRILLAR TYPE 4.
Fetal anomalies v0.7 KRIT1 Rebecca Foulger reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 KIT Rebecca Foulger reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 KCNE1 Rebecca Foulger commented on gene: KCNE1: Rating in original PAGE file: 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2
Fetal anomalies v0.7 KARS Rebecca Foulger commented on gene: KARS: Rating in original PAGE file: 'both DD and IF' for both CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B and DEAFNESS, AUTOSOMAL RECESSIVE 89.
Fetal anomalies v0.7 HSPD1 Rebecca Foulger reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 GBA Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 FAM161A Rebecca Foulger reviewed gene: FAM161A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 DARS2 Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 COL4A2 Rebecca Foulger commented on gene: COL4A2: Rating in original PAGE file: 'both DD and IF' for PORENCEPHALY 2
Fetal anomalies v0.7 COL4A1 Rebecca Foulger commented on gene: COL4A1: Rating in original PAGE file: 'both DD and IF' for PORENCEPHALY 1
Fetal anomalies v0.7 CLN6 Rebecca Foulger commented on gene: CLN6: Rating in original PAGE file: 'both DD and IF' for both CEROID LIPOFUSCINOSIS, NEURONAL, 6 and CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
Fetal anomalies v0.7 CISD2 Rebecca Foulger reviewed gene: CISD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 CDH1 Rebecca Foulger commented on gene: CDH1: Rating in original PAGE file: 'both DD and IF' for Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.7 BRCA2 Rebecca Foulger reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 BRCA1 Rebecca Foulger reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.7 ATP13A2 Rebecca Foulger reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 AR Rebecca Foulger commented on gene: AR: Rating in original PAGE file: 'both DD and IF' for both SPINAL AND BULBAR MUSCULAR ATROPHY and ANDROGEN INSENSITIVITY SYNDROME.
Fetal anomalies v0.7 ANO5 Rebecca Foulger commented on gene: ANO5: Rating in original PAGE file: 'both DD and IF' for both MIYOSHI MUSCULAR DYSTROPHY TYPE 3 and GNATHODIAPHYSEAL DYSPLASIA.
Fetal anomalies v0.7 AMER1 Rebecca Foulger reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ALDOB Rebecca Foulger reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ALAD Rebecca Foulger commented on gene: ALAD: Rating in original PAGE file: 'both DD and IF' for ACUTE HEPATIC PORPHYRIA
Fetal anomalies v0.7 AIRE Rebecca Foulger reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 AGXT Rebecca Foulger reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ACTA2 Rebecca Foulger commented on gene: ACTA2: Rating in original PAGE file: 'both DD and IF' for MOYAMOYA DISEASE 5 and AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Fetal anomalies v0.7 ACADS Rebecca Foulger commented on gene: ACADS: Rating in original PAGE file: 'both DD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.7 ABCD1 Rebecca Foulger reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.6 RET Rebecca Foulger commented on gene: RET: Rating in original PAGE file: 'Both DD and IF' for RENAL AGENESIS and MULTIPLE ENDOCRINE NEOPLASIA IIB.
Fetal anomalies v0.6 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'Both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.6 ANO5 Rebecca Foulger commented on gene: ANO5: Rating in original PAGE file: 'Both DD and IF' for both MIYOSHI MUSCULAR DYSTROPHY TYPE 3 and GNATHODIAPHYSEAL DYSPLASIA.
Fetal anomalies v0.5 SMAD4 Rebecca Foulger commented on gene: SMAD4: Multiple ratings in original PAGE file: rated as confirmed for MYHRE SYNDROME. Rated as both DD and IF for: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME and JUVENILE POLYPOSIS SYNDROME.
Fetal anomalies v0.5 FMR1 Rebecca Foulger commented on gene: FMR1: Multiple ratings in original PAGE file: rated as confirmed for FRAGILE X SYNDROME. Rated as both DD and IF for: PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 and FRAGILE X TREMOR/ATAXIA SYNDROME.
Intellectual disability v2.574 MCM3AP Konstantinos Varvagiannis gene: MCM3AP was added
gene: MCM3AP was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124)
Penetrance for gene: MCM3AP were set to Complete
Review for gene: MCM3AP was set to AMBER
gene: MCM3AP was marked as current diagnostic
Added comment: Biallelic mutations in MCM3AP cause Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM 618124).

All relevant publications [PMIDs: 24123876, 28633435 (first detailed description of a series of patients with functional studies), 28969388, 29982295) are summarized in OMIM.

Overall more than 18 patients from 10 families and at least 8 pathogenic variants have been reported.

Apart from abnormal motor development which may be associated with the sensorimotor neuropathy, intellectual disability was a feature in several individuals (although not a universal one).

Some patients were initially evaluated for their ID while investigations for the neuropathy may be conducted late (as evident in PMID: 28633435).

MCM3AP is included in gene panels for intellectual disability offered by diagnostic laboratories.

As a result, this gene can be considered for inclusion in the ID panel as amber or green (depending on its relevance to the specific panel).
Sources: Literature
Amyotrophic lateral sclerosis/motor neuron disease v1.25 NOP56_GGCCTG Arianna Tucci Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.36 NOP56_GGCCTG Arianna Tucci Repeated Sequence for NOP56_GGCCTG was changed from CAG to GGCCTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.24 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.35 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Parkinson Disease and Complex Parkinsonism v1.58 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Intellectual disability v2.574 SET Konstantinos Varvagiannis reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 25356899, 28135719; Phenotypes: Mental retardation, autosomal dominant 58 (MIM 618106); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early onset or syndromic epilepsy v0.1417 NDUFAF5 Eleanor Williams commented on gene: NDUFAF5
Early onset or syndromic epilepsy v0.1417 NDUFAF3 Eleanor Williams Marked gene: NDUFAF3 as ready
Early onset or syndromic epilepsy v0.1417 NDUFAF3 Eleanor Williams Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1417 NDUFAF3 Eleanor Williams Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1416 NDUFAF3 Eleanor Williams Publications for gene: NDUFAF3 were set to
Early onset or syndromic epilepsy v0.1415 NDUFAF3 Eleanor Williams Mode of inheritance for gene: NDUFAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1414 NDUFAF3 Eleanor Williams Classified gene: NDUFAF3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1414 NDUFAF3 Eleanor Williams Added comment: Comment on list classification: There are 3 cases supporting the association of NDUFAF3 with Mitochondrial complex I deficiency, but only two cases with seizures to date so keeping this gene Amber until further cases verify the association with seizures.
Early onset or syndromic epilepsy v0.1414 NDUFAF3 Eleanor Williams Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1413 NDUFAF3 Eleanor Williams commented on gene: NDUFAF3
Brain channelopathy v1.42 TBP_CAG Louise Daugherty Tag STR tag was added to STR: TBP_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 TBP_CAG Louise Daugherty Tag STR tag was added to STR: TBP_CAG.
Hereditary spastic paraplegia v1.95 TBP_CAG Louise Daugherty Tag STR tag was added to STR: TBP_CAG.
Early onset or syndromic epilepsy v0.1413 ATN1_CAG Louise Daugherty Tag STR tag was added to STR: ATN1_CAG.
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as No list
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.574 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been removed from the panel.
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Louise Daugherty Tag STR tag was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia v1.95 PPP2R2B_CAG Louise Daugherty Tag STR tag was added to STR: PPP2R2B_CAG.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 NOP56_GGCCTG Louise Daugherty Tag STR tag was added to STR: NOP56_GGCCTG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Louise Daugherty Tag STR tag was added to STR: NOP56_GGCCTG.
Early onset dystonia v1.61 JPH3_CTG Louise Daugherty Repeated Sequence for JPH3_CTG was changed from CTG to CAG.
Early onset dystonia v1.60 JPH3_CTG Louise Daugherty Deleted their comment
Early onset or syndromic epilepsy v0.1413 PSAP Eleanor Williams Classified gene: PSAP as Green List (high evidence)
Early onset or syndromic epilepsy v0.1413 PSAP Eleanor Williams Added comment: Comment on list classification: Promoting to green after gaining access to PMID: 2514102 and confirming a second case of a patient showing seizures, which along with the mouse knockout model confirms the association with seizures. In addition there is a green expert review.
Early onset or syndromic epilepsy v0.1413 PSAP Eleanor Williams Gene: psap has been classified as Green List (High Evidence).
Early onset dystonia v1.60 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG
Early onset dystonia v1.60 JPH3_CTG Louise Daugherty Repeated Sequence for JPH3_CTG was changed from CAG to CTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brain channelopathy v1.42 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as No list
Brain channelopathy v1.42 HTT_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Brain channelopathy v1.42 HTT_CAG Louise Daugherty Str: htt_cag has been removed from the panel.
Early onset dystonia v1.59 JPH3_CTG Louise Daugherty Tag STR tag was added to STR: JPH3_CTG.
Structural basal ganglia disorders v1.10 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as No list
Structural basal ganglia disorders v1.10 HTT_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Structural basal ganglia disorders v1.10 HTT_CAG Louise Daugherty Str: htt_cag has been removed from the panel.
Brain channelopathy v1.41 HTT_CAG Louise Daugherty Normal Number of Repeats for HTT_CAG was changed from 36 to 40.
Pathogenic Number of Repeats for HTT_CAG was changed from 36 to 40.
Structural basal ganglia disorders v1.9 HTT_CAG Louise Daugherty Normal Number of Repeats for HTT_CAG was changed from 36 to 40.
Pathogenic Number of Repeats for HTT_CAG was changed from 36 to 40.
Hereditary spastic paraplegia v1.95 HTT_CAG Louise Daugherty Tag STR tag was added to STR: HTT_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 HTT_CAG Louise Daugherty Tag STR tag was added to STR: HTT_CAG.
Hereditary ataxia v1.143 HTT_CAG Louise Daugherty Tag STR tag was added to STR: HTT_CAG.
Intellectual disability v2.573 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as No list
Intellectual disability v2.573 FXN_GAA Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.573 FXN_GAA Louise Daugherty Str: fxn_gaa has been removed from the panel.
Intellectual disability v2.572 FXN_GAA Louise Daugherty Normal Number of Repeats for FXN_GAA was changed from 33 to 44.
Hypertrophic cardiomyopathy v1.25 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as No list
Hypertrophic cardiomyopathy v1.25 FXN_GAA Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Hypertrophic cardiomyopathy v1.25 FXN_GAA Louise Daugherty Str: fxn_gaa has been removed from the panel.
Hypertrophic cardiomyopathy v1.24 FXN_GAA Louise Daugherty Normal Number of Repeats for FXN_GAA was changed from 33 to 44.
Hereditary spastic paraplegia v1.95 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Hereditary neuropathy v1.37 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Mitochondrial disorders v1.73 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Congenital muscular dystrophy v1.18 DMPK_CTG Louise Daugherty Tag STR tag was added to STR: DMPK_CTG.
Mitochondrial disorders v1.73 DMPK_CTG Louise Daugherty Tag STR tag was added to STR: DMPK_CTG.
Fetal hydrops v1.16 DMPK_CTG Louise Daugherty Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Gastrointestinal neuromuscular disorders v1.9 DMPK_CTG Louise Daugherty Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Paediatric motor neuronopathies v1.19 DMPK_CTG Louise Daugherty Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Intellectual disability v2.571 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as No list
Intellectual disability v2.571 CSTB_CCCCGCCCCGCG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.571 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been removed from the panel.
Early onset or syndromic epilepsy v0.1412 CSTB_CCCCGCCCCGCG Louise Daugherty Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Hereditary ataxia v1.143 CSTB_CCCCGCCCCGCG Louise Daugherty Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Brain channelopathy v1.40 CSTB_CCCCGCCCCGCG Louise Daugherty Tag STR tag was added to STR: CSTB_CCCCGCCCCGCG.
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as No list
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.570 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been removed from the panel.
Undiagnosed metabolic disorders v1.79 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as No list
Undiagnosed metabolic disorders v1.79 ATXN7_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Undiagnosed metabolic disorders v1.79 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been removed from the panel.
Hereditary spastic paraplegia v1.95 ATXN7_CAG Louise Daugherty Tag STR tag was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia v1.95 CACNA1A_CAG Louise Daugherty Tag STR tag was added to STR: CACNA1A_CAG.
Brain channelopathy v1.40 CACNA1A_CAG Louise Daugherty Tag STR tag was added to STR: CACNA1A_CAG.
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as No list
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.569 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been removed from the panel.
Hereditary neuropathy v1.37 ATXN3_CAG Louise Daugherty Tag STR tag was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia v1.95 ATXN3_CAG Louise Daugherty Tag STR tag was added to STR: ATXN3_CAG.
Early onset dystonia v1.59 ATXN3_CAG Louise Daugherty Tag STR tag was added to STR: ATXN3_CAG.
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as No list
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.568 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been removed from the panel.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as No list
Amyotrophic lateral sclerosis/motor neuron disease v1.23 ATXN2_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Amyotrophic lateral sclerosis/motor neuron disease v1.23 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been removed from the panel.
Early onset dystonia v1.59 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia v1.95 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Hereditary neuropathy v1.37 ATXN2_CAG Louise Daugherty Tag STR tag was added to STR: ATXN2_CAG.
Skeletal dysplasia v1.130 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as No list
Skeletal dysplasia v1.130 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Skeletal dysplasia v1.130 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been removed from the panel.
Intellectual disability v2.567 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as No list
Intellectual disability v2.567 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Intellectual disability v2.567 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been removed from the panel.
Early onset or syndromic epilepsy v0.1412 PSAP Eleanor Williams Added comment: Comment on phenotypes: Only added Combined SAP deficiency as a phenotype as evidence for seizures only found for this disorder.
Early onset or syndromic epilepsy v0.1412 PSAP Eleanor Williams Phenotypes for gene: PSAP were changed from to Combined SAP deficiency 611721
Early onset or syndromic epilepsy v0.1411 PSAP Eleanor Williams Publications for gene: PSAP were set to
Early onset dystonia v1.59 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as No list
Early onset dystonia v1.59 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Early onset dystonia v1.59 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been removed from the panel.
Early onset or syndromic epilepsy v0.1410 PSAP Eleanor Williams Mode of inheritance for gene: PSAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Thoracic dystrophies v1.3 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as No list
Thoracic dystrophies v1.3 ATXN10_ATTCT Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Thoracic dystrophies v1.3 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been removed from the panel.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 ATXN10_ATTCT Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Marked STR: CSTB_CCCCGCCCCGCG as ready
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.95 ATXN10_ATTCT Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Early onset or syndromic epilepsy v0.1409 CSTB_CCCCGCCCCGCG Arianna Tucci Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary neuropathy v1.37 ATXN10_ATTCT Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
Early onset dystonia v1.58 ATXN10_ATTCT Louise Daugherty Tag STR tag was added to STR: ATXN10_ATTCT.
Early onset or syndromic epilepsy v0.1408 CSTB_CCCCGCCCCGCG Arianna Tucci STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert list
Early onset or syndromic epilepsy v0.1407 PSAP Eleanor Williams Classified gene: PSAP as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1407 PSAP Eleanor Williams Added comment: Comment on list classification: Keeping Amber rating, as only 1 confirmed case of a variant in PSAP in a n individual with seizures. A mouse model which does develop seizures also exists.
Early onset or syndromic epilepsy v0.1407 PSAP Eleanor Williams Gene: psap has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1406 ATN1_CAG Arianna Tucci Marked STR: ATN1_CAG as ready
Early onset or syndromic epilepsy v0.1406 ATN1_CAG Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset or syndromic epilepsy v0.1406 ATN1_CAG Arianna Tucci Str: atn1_cag has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1406 PSAP Eleanor Williams commented on gene: PSAP: A mouse SAP -/- knockout exists (PMID: 8776585) and surviving mice develop intermittent seizures and progress to continual tonic status epilepticus.
Early onset or syndromic epilepsy v0.1406 ATN1_CAG Arianna Tucci Classified STR: ATN1_CAG as Green List (high evidence)
Early onset or syndromic epilepsy v0.1406 ATN1_CAG Arianna Tucci Str: atn1_cag has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1405 ATN1_CAG Arianna Tucci STR: ATN1_CAG was added
STR: ATN1_CAG was added to Genetic epilepsy syndromes. Sources: Expert Review
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: ATN1_CAG was set to GREEN
Added comment: Sources: Expert Review
Intellectual disability v2.566 ATXN1_CAG Louise Daugherty Pathogenic Number of Repeats for ATXN1_CAG was changed from 39 to 44.
Intellectual disability v2.565 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as No list
Intellectual disability v2.565 ATXN1_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci
Intellectual disability v2.565 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been removed from the panel.
Early onset or syndromic epilepsy v0.1404 PSAP Eleanor Williams commented on gene: PSAP: Metachromatic leukodystrophy due to SAP-b deficiency
2 cases of children with variants in PSAP and saposin B deficiency have been reported in PMID: 8554069 (Henseler et al. 1996) and PMID: 10682309 (Wrobe et al. 2000). Neither child was reported to have seizures.
Early onset or syndromic epilepsy v0.1404 PSAP Eleanor Williams commented on gene: PSAP: Combined SAP deficiency
PMIDs: 2514102 (Harzer et al. 1989) and 1371116 (Schnabel et al. 1992) report 2 sibs with combined SAP deficiency with a homozygous mutation resulting in a M1L substitution. No precursor and no mature SAPs were detected in the patient's cells. Both parents were heterozygous for the mutation. Can't access full text for PMID: 2514102 to assess phenotype.

PMID: 11309366 (Hulkova et al. 2001) - In a Slovakian patient with fatal infantile combined SAP deficiency, a homozygous for a 1 bp deletion in the PSAP gene, inherited from both his parents . Immunohistochemical investigations indicated that saposins A, B, C, and D were all deficient. Generalized seizures developed within minutes of birth.
Early onset or syndromic epilepsy v0.1404 PSAP Eleanor Williams commented on gene: PSAP
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia v1.95 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Parkinson Disease and Complex Parkinsonism v1.57 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Hereditary neuropathy v1.37 ATXN1_CAG Louise Daugherty Tag STR tag was added to STR: ATXN1_CAG.
Parkinson Disease and Complex Parkinsonism v1.57 ATN1_CAG Louise Daugherty Tag STR tag was added to STR: ATN1_CAG.
Distal myopathies v1.9 AR_CAG Louise Daugherty Tag STR tag was added to STR: AR_CAG.
Congenital myopathy v1.65 AR_CAG Louise Daugherty Tag STR tag was added to STR: AR_CAG.
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Classified STR: AR_CAG as No list
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Str: ar_cag has been removed from the panel.
Early onset or syndromic epilepsy v0.1404 PPP3CA Eleanor Williams Marked gene: PPP3CA as ready
Early onset or syndromic epilepsy v0.1404 PPP3CA Eleanor Williams Gene: ppp3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1404 PPP3CA Eleanor Williams Publications for gene: PPP3CA were set to
Early onset or syndromic epilepsy v0.1403 PPP3CA Eleanor Williams Phenotypes for gene: PPP3CA were changed from to Epileptic encephalopathy, infantile or early childhood, 1 617711
Early onset or syndromic epilepsy v0.1402 PPP3CA Eleanor Williams Mode of inheritance for gene: PPP3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1401 PPP3CA Eleanor Williams Classified gene: PPP3CA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1401 PPP3CA Eleanor Williams Added comment: Comment on list classification: > 3 cases of de novo variants in this gene associated with Epileptic encephalopathy. Note variants in the catalytic domain result in loss of function and are associated with this phenotype. Variants in the AI domain of the protein are not thought to be loss of function and the clinical phenotype does not always include seizures.
Early onset or syndromic epilepsy v0.1401 PPP3CA Eleanor Williams Gene: ppp3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1400 PPP3CA Eleanor Williams commented on gene: PPP3CA
Surfactant deficiency v0.3 TERT Louise Daugherty Source Expert Review Amber was added to TERT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Surfactant deficiency v0.3 NKX2-1 Louise Daugherty Source Expert Review Green was added to NKX2-1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 CSF2RB Louise Daugherty Source Expert Review Green was added to CSF2RB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 SFTPD Louise Daugherty Source Expert Review Green was added to SFTPD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 SFTPC Louise Daugherty Source Expert Review Green was added to SFTPC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 SFTPB Louise Daugherty Source Expert Review Green was added to SFTPB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.3 ABCA3 Louise Daugherty Source Expert Review Green was added to ABCA3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Surfactant deficiency v0.2 TERT Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 CSF2RB Louise Daugherty reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 SFTPD Louise Daugherty reviewed gene: SFTPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 SFTPC Louise Daugherty reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 SFTPB Louise Daugherty reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.2 ABCA3 Louise Daugherty reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Surfactant deficiency v0.1 TERT Louise Daugherty gene: TERT was added
gene: TERT was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: TERT was set to
Surfactant deficiency v0.1 NKX2-1 Louise Daugherty gene: NKX2-1 was added
gene: NKX2-1 was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: NKX2-1 was set to
Surfactant deficiency v0.1 CSF2RB Louise Daugherty gene: CSF2RB was added
gene: CSF2RB was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: CSF2RB was set to
Surfactant deficiency v0.1 SFTPD Louise Daugherty gene: SFTPD was added
gene: SFTPD was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: SFTPD was set to
Surfactant deficiency v0.1 SFTPC Louise Daugherty gene: SFTPC was added
gene: SFTPC was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: SFTPC was set to
Surfactant deficiency v0.1 SFTPB Louise Daugherty gene: SFTPB was added
gene: SFTPB was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: SFTPB was set to
Surfactant deficiency v0.1 ABCA3 Louise Daugherty gene: ABCA3 was added
gene: ABCA3 was added to Surfactant deficiency. Sources: NHS GMS
Mode of inheritance for gene: ABCA3 was set to
Intellectual disability v2.564 TRMT1 Konstantinos Varvagiannis reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30289604, 21937992, 26308914, 28784718; Phenotypes: Global developmental delay, Intellectual disability, Seizures, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN2C Ivone Leong reviewed gene: CDKN2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN2B Ivone Leong reviewed gene: CDKN2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN1A Ivone Leong reviewed gene: CDKN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 CDKN1A Ivone Leong Publications for gene: CDKN1A were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.9 CDKN2B Ivone Leong Publications for gene: CDKN2B were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.8 CDKN2C Ivone Leong Publications for gene: CDKN2C were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.7 CDKN2C Ivone Leong Phenotypes for gene: CDKN2C were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.6 CDKN2B Ivone Leong Phenotypes for gene: CDKN2B were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.5 CDKN1A Ivone Leong Phenotypes for gene: CDKN1A were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 GCM2 Ivone Leong Classified gene: GCM2 as Green List (high evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 GCM2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on below comment.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 GCM2 Ivone Leong Gene: gcm2 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.3 GCM2 Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.2 GCM2 Ivone Leong reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.2 RET Ivone Leong Added comment: Comment on mode of pathogenicity: Variants in RET cause gain-of-function effects.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.2 RET Ivone Leong Mode of pathogenicity for gene: RET was changed from to Other
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 RET Ivone Leong commented on gene: RET
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 MEN1 Ivone Leong commented on gene: MEN1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1B Ivone Leong commented on gene: CDKN1B
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CASR Ivone Leong commented on gene: CASR
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDC73 Ivone Leong commented on gene: CDC73
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 RET Ivone Leong gene: RET was added
gene: RET was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 (131100)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 GCM2 Ivone Leong gene: GCM2 was added
gene: GCM2 was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GCM2 were set to 27745835; 29264504
Phenotypes for gene: GCM2 were set to Hypoparathyroidism, familial isolated (146200); Hyperparathyroidism 4 (617343)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN2C Ivone Leong gene: CDKN2C was added
gene: CDKN2C was added to Familial hyperparathyroidism. Sources: UKGTN
Mode of inheritance for gene: CDKN2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN2C were set to No OMIM number
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN2B Ivone Leong gene: CDKN2B was added
gene: CDKN2B was added to Familial hyperparathyroidism. Sources: UKGTN
Mode of inheritance for gene: CDKN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN2B were set to No OMIM number
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1B Ivone Leong gene: CDKN1B was added
gene: CDKN1B was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia, type IV (610755)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDKN1A Ivone Leong gene: CDKN1A was added
gene: CDKN1A was added to Familial hyperparathyroidism. Sources: UKGTN
Mode of inheritance for gene: CDKN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1A were set to No OMIM number
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CDC73 Ivone Leong gene: CDC73 was added
gene: CDC73 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC73 were set to 12434154; 15531515
Phenotypes for gene: CDC73 were set to Hyperparathyroidism, familial primary (145000); Hyperparathyroidism-jaw tumor syndrome (145001)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 CASR Ivone Leong gene: CASR was added
gene: CASR was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 ZMYND10 Louise Daugherty Source Expert Review Green was added to ZMYND10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 TTC25 Louise Daugherty Source Expert Review Green was added to TTC25.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 TAPT1 Louise Daugherty Source Expert Review Amber was added to TAPT1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 STK36 Louise Daugherty Source Expert Review Green was added to STK36.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SPAG17 Louise Daugherty Source Expert Review Red was added to SPAG17.
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SPAG1 Louise Daugherty Source Expert Review Green was added to SPAG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SCNN1G Louise Daugherty Source Expert Review Green was added to SCNN1G.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SCNN1B Louise Daugherty Source Expert Review Green was added to SCNN1B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 SCNN1A Louise Daugherty Source Expert Review Green was added to SCNN1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH9 Louise Daugherty Source Expert Review Green was added to RSPH9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH4A Louise Daugherty Source Expert Review Green was added to RSPH4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH3 Louise Daugherty Source Expert Review Green was added to RSPH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RSPH1 Louise Daugherty Source Expert Review Green was added to RSPH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 RPGR Louise Daugherty Source Expert Review Amber was added to RPGR.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 PIK3CD Louise Daugherty Source Expert Review Amber was added to PIK3CD.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 PIH1D3 Louise Daugherty Source Expert Review Green was added to PIH1D3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 ORMDL3 Louise Daugherty Source Expert Review Red was added to ORMDL3.
Respiratory ciliopathies including non-CF bronchiectasis v0.3 OFD1 Louise Daugherty Source Expert Review Amber was added to OFD1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 NME8 Louise Daugherty Source Expert Review Green was added to NME8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 MCIDAS Louise Daugherty Source Expert Review Green was added to MCIDAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 LRRC6 Louise Daugherty Source Expert Review Green was added to LRRC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 LRRC56 Louise Daugherty Source Expert Review Green was added to LRRC56.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 HYDIN Louise Daugherty Source Expert Review Green was added to HYDIN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 GAS8 Louise Daugherty Source Expert Review Green was added to GAS8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DRC1 Louise Daugherty Source Expert Review Green was added to DRC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAL1 Louise Daugherty Source Expert Review Green was added to DNAL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAJB13 Louise Daugherty Source Expert Review Green was added to DNAJB13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAI2 Louise Daugherty Source Expert Review Green was added to DNAI2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAI1 Louise Daugherty Source Expert Review Green was added to DNAI1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH9 Louise Daugherty Source Expert Review Amber was added to DNAH9.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH8 Louise Daugherty Source Expert Review Green was added to DNAH8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH6 Louise Daugherty Source Expert Review Amber was added to DNAH6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH5 Louise Daugherty Source Expert Review Green was added to DNAH5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH11 Louise Daugherty Source Expert Review Green was added to DNAH11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAH1 Louise Daugherty Source Expert Review Amber was added to DNAH1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF5 Louise Daugherty Source Expert Review Green was added to DNAAF5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF4 Louise Daugherty Source Expert Review Green was added to DNAAF4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF3 Louise Daugherty Source Expert Review Green was added to DNAAF3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF2 Louise Daugherty Source Expert Review Green was added to DNAAF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 DNAAF1 Louise Daugherty Source Expert Review Green was added to DNAAF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFTR Louise Daugherty Source Expert Review Green was added to CFTR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFAP54 Louise Daugherty Source Expert Review Amber was added to CFAP54.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFAP46 Louise Daugherty Source Expert Review Amber was added to CFAP46.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CENPF Louise Daugherty Source Expert Review Green was added to CENPF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCNO Louise Daugherty Source Expert Review Green was added to CCNO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC65 Louise Daugherty Source Expert Review Green was added to CCDC65.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC40 Louise Daugherty Source Expert Review Green was added to CCDC40.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC39 Louise Daugherty Source Expert Review Green was added to CCDC39.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC151 Louise Daugherty Source Expert Review Green was added to CCDC151.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC114 Louise Daugherty Source Expert Review Green was added to CCDC114.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CCDC103 Louise Daugherty Source Expert Review Green was added to CCDC103.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 C21orf59 Louise Daugherty Source Expert Review Green was added to C21orf59.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 C11orf70 Louise Daugherty Source Expert Review Green was added to C11orf70.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 ARMC4 Louise Daugherty Source Expert Review Green was added to ARMC4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.3 AGPAT2 Louise Daugherty Source Expert Review Red was added to AGPAT2.
Respiratory ciliopathies including non-CF bronchiectasis v0.2 ZMYND10 Louise Daugherty reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 TTC25 Louise Daugherty reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 TAPT1 Louise Daugherty reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 STK36 Louise Daugherty reviewed gene: STK36: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SPAG17 Louise Daugherty reviewed gene: SPAG17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SPAG1 Louise Daugherty reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SCNN1G Louise Daugherty reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SCNN1B Louise Daugherty reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 SCNN1A Louise Daugherty reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH9 Louise Daugherty reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH4A Louise Daugherty reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH3 Louise Daugherty reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RSPH1 Louise Daugherty reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 RPGR Louise Daugherty reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 PIK3CD Louise Daugherty reviewed gene: PIK3CD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 PIH1D3 Louise Daugherty reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 ORMDL3 Louise Daugherty reviewed gene: ORMDL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 OFD1 Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 NME8 Louise Daugherty reviewed gene: NME8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 MCIDAS Louise Daugherty reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 LRRC6 Louise Daugherty reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 LRRC56 Louise Daugherty reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 HYDIN Louise Daugherty reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 GAS8 Louise Daugherty reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DRC1 Louise Daugherty reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAL1 Louise Daugherty reviewed gene: DNAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAJB13 Louise Daugherty reviewed gene: DNAJB13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAI2 Louise Daugherty reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAI1 Louise Daugherty reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH9 Louise Daugherty reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH8 Louise Daugherty reviewed gene: DNAH8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH6 Louise Daugherty reviewed gene: DNAH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH5 Louise Daugherty reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH11 Louise Daugherty reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAH1 Louise Daugherty reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF5 Louise Daugherty reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF4 Louise Daugherty reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF3 Louise Daugherty reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF2 Louise Daugherty reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 DNAAF1 Louise Daugherty reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFTR Louise Daugherty reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFAP54 Louise Daugherty reviewed gene: CFAP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFAP46 Louise Daugherty reviewed gene: CFAP46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CENPF Louise Daugherty reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCNO Louise Daugherty reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC65 Louise Daugherty reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC40 Louise Daugherty reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC39 Louise Daugherty reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC151 Louise Daugherty reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC114 Louise Daugherty reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CCDC103 Louise Daugherty reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 C21orf59 Louise Daugherty reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 C11orf70 Louise Daugherty reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 ARMC4 Louise Daugherty reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.2 AGPAT2 Louise Daugherty reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.1 ZMYND10 Louise Daugherty gene: ZMYND10 was added
gene: ZMYND10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: ZMYND10 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 TTC25 Louise Daugherty gene: TTC25 was added
gene: TTC25 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: TTC25 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 TAPT1 Louise Daugherty gene: TAPT1 was added
gene: TAPT1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: TAPT1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 STK36 Louise Daugherty gene: STK36 was added
gene: STK36 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: STK36 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SPAG17 Louise Daugherty gene: SPAG17 was added
gene: SPAG17 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SPAG17 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SPAG1 Louise Daugherty gene: SPAG1 was added
gene: SPAG1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SPAG1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SCNN1G Louise Daugherty gene: SCNN1G was added
gene: SCNN1G was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SCNN1G was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SCNN1B Louise Daugherty gene: SCNN1B was added
gene: SCNN1B was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SCNN1B was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 SCNN1A Louise Daugherty gene: SCNN1A was added
gene: SCNN1A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: SCNN1A was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH9 Louise Daugherty gene: RSPH9 was added
gene: RSPH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH9 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH4A Louise Daugherty gene: RSPH4A was added
gene: RSPH4A was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH4A was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH3 Louise Daugherty gene: RSPH3 was added
gene: RSPH3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RSPH1 Louise Daugherty gene: RSPH1 was added
gene: RSPH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RSPH1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 RPGR Louise Daugherty gene: RPGR was added
gene: RPGR was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: RPGR was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 PIK3CD Louise Daugherty gene: PIK3CD was added
gene: PIK3CD was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: PIK3CD was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 PIH1D3 Louise Daugherty gene: PIH1D3 was added
gene: PIH1D3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: PIH1D3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 ORMDL3 Louise Daugherty gene: ORMDL3 was added
gene: ORMDL3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: ORMDL3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 OFD1 Louise Daugherty gene: OFD1 was added
gene: OFD1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: OFD1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 NME8 Louise Daugherty gene: NME8 was added
gene: NME8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: NME8 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 MCIDAS Louise Daugherty gene: MCIDAS was added
gene: MCIDAS was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: MCIDAS was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 LRRC6 Louise Daugherty gene: LRRC6 was added
gene: LRRC6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: LRRC6 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 LRRC56 Louise Daugherty gene: LRRC56 was added
gene: LRRC56 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: LRRC56 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 HYDIN Louise Daugherty gene: HYDIN was added
gene: HYDIN was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: HYDIN was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 GAS8 Louise Daugherty gene: GAS8 was added
gene: GAS8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: GAS8 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DRC1 Louise Daugherty gene: DRC1 was added
gene: DRC1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DRC1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAL1 Louise Daugherty gene: DNAL1 was added
gene: DNAL1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAL1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAJB13 Louise Daugherty gene: DNAJB13 was added
gene: DNAJB13 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAJB13 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAI2 Louise Daugherty gene: DNAI2 was added
gene: DNAI2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAI2 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAI1 Louise Daugherty gene: DNAI1 was added
gene: DNAI1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAI1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH9 Louise Daugherty gene: DNAH9 was added
gene: DNAH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH9 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH8 Louise Daugherty gene: DNAH8 was added
gene: DNAH8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH8 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH6 Louise Daugherty gene: DNAH6 was added
gene: DNAH6 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH6 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH5 Louise Daugherty gene: DNAH5 was added
gene: DNAH5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH5 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH11 Louise Daugherty gene: DNAH11 was added
gene: DNAH11 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH11 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAH1 Louise Daugherty gene: DNAH1 was added
gene: DNAH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAH1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF5 Louise Daugherty gene: DNAAF5 was added
gene: DNAAF5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF5 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF4 Louise Daugherty gene: DNAAF4 was added
gene: DNAAF4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF4 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF3 Louise Daugherty gene: DNAAF3 was added
gene: DNAAF3 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF3 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF2 Louise Daugherty gene: DNAAF2 was added
gene: DNAAF2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF2 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 DNAAF1 Louise Daugherty gene: DNAAF1 was added
gene: DNAAF1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: DNAAF1 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFTR Louise Daugherty gene: CFTR was added
gene: CFTR was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFTR was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFAP54 Louise Daugherty gene: CFAP54 was added
gene: CFAP54 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFAP54 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFAP46 Louise Daugherty gene: CFAP46 was added
gene: CFAP46 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFAP46 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CENPF Louise Daugherty gene: CENPF was added
gene: CENPF was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CENPF was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCNO Louise Daugherty gene: CCNO was added
gene: CCNO was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCNO was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC65 Louise Daugherty gene: CCDC65 was added
gene: CCDC65 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC65 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC40 Louise Daugherty gene: CCDC40 was added
gene: CCDC40 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC40 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC39 Louise Daugherty gene: CCDC39 was added
gene: CCDC39 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC39 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC151 Louise Daugherty gene: CCDC151 was added
gene: CCDC151 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC151 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC114 Louise Daugherty gene: CCDC114 was added
gene: CCDC114 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC114 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CCDC103 Louise Daugherty gene: CCDC103 was added
gene: CCDC103 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CCDC103 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 C21orf59 Louise Daugherty gene: C21orf59 was added
gene: C21orf59 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: C21orf59 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 C11orf70 Louise Daugherty gene: C11orf70 was added
gene: C11orf70 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: C11orf70 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 ARMC4 Louise Daugherty gene: ARMC4 was added
gene: ARMC4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: ARMC4 was set to
Respiratory ciliopathies including non-CF bronchiectasis v0.1 AGPAT2 Louise Daugherty gene: AGPAT2 was added
gene: AGPAT2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: AGPAT2 was set to
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Marked STR: NOP56_GGCCTG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Classified STR: NOP56_GGCCTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.34 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.33 NOP56_GGCCTG Arianna Tucci STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: NOP56_GGCCTG was set to GREEN
Added comment: added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Amyotrophic lateral sclerosis/motor neuron disease v1.22 NOP56_GGCCTG Arianna Tucci Classified STR: NOP56_GGCCTG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.22 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci Marked STR: NOP56_GGCCTG as ready
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Red List (Low Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.21 NOP56_GGCCTG Arianna Tucci STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Expert Review
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia v1.143 NOP56_GGCCTG Arianna Tucci Classified STR: NOP56_GGCCTG as Green List (high evidence)
Hereditary ataxia v1.143 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Green List (High Evidence).
Hereditary ataxia v1.142 NOP56_GGCCTG Arianna Tucci Normal Number of Repeats for NOP56_GGCCTG was changed from 14 to 15.
Hereditary ataxia v1.141 NOP56_GGCCTG Arianna Tucci Marked STR: NOP56_GGCCTG as ready
Hereditary ataxia v1.141 NOP56_GGCCTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.141 NOP56_GGCCTG Arianna Tucci Str: nop56_ggcctg has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.95 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.94 TBP_CAG Arianna Tucci STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: TBP_CAG was marked as current diagnostic
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Marked STR: PPP2R2B_CAG as ready
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Classified STR: PPP2R2B_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.57 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.56 PPP2R2B_CAG Arianna Tucci commented on STR: PPP2R2B_CAG: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.56 PPP2R2B_CAG Arianna Tucci STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert Review
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Sources: Expert Review
Hereditary spastic paraplegia v1.93 PPP2R2B_CAG Arianna Tucci Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.93 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci Marked STR: PPP2R2B_CAG as ready
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci Str: ppp2r2b_cag has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.92 PPP2R2B_CAG Arianna Tucci STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: PPP2R2B_CAG was marked as current diagnostic
Laterality disorders and isomerism v0.3 ZMYND10 Louise Daugherty Source Expert Review Green was added to ZMYND10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ZIC3 Louise Daugherty Source Expert Review Green was added to ZIC3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 TTC25 Louise Daugherty Source Expert Review Green was added to TTC25.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 SPAG1 Louise Daugherty Source Expert Review Green was added to SPAG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH9 Louise Daugherty Source Expert Review Green was added to RSPH9.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH4A Louise Daugherty Source Expert Review Green was added to RSPH4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH3 Louise Daugherty Source Expert Review Green was added to RSPH3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 RSPH1 Louise Daugherty Source Expert Review Green was added to RSPH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 PKD1L1 Louise Daugherty Source Expert Review Green was added to PKD1L1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 PIH1D3 Louise Daugherty Source Expert Review Green was added to PIH1D3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 NSD2 Louise Daugherty Source Expert Review Red was added to NSD2.
Laterality disorders and isomerism v0.3 NPHP4 Louise Daugherty Source Expert Review Amber was added to NPHP4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 NODAL Louise Daugherty Source Expert Review Green was added to NODAL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 NME8 Louise Daugherty Source Expert Review Green was added to NME8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 NKX2-5 Louise Daugherty Source Expert Review Amber was added to NKX2-5.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 MYH6 Louise Daugherty Source Expert Review Amber was added to MYH6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 MMP21 Louise Daugherty Source Expert Review Green was added to MMP21.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 LZTFL1 Louise Daugherty Source Expert Review Amber was added to LZTFL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 LRRC6 Louise Daugherty Source Expert Review Green was added to LRRC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 LRRC56 Louise Daugherty Source Expert Review Green was added to LRRC56.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 LETM1 Louise Daugherty Source Expert Review Red was added to LETM1.
Laterality disorders and isomerism v0.3 HYDIN Louise Daugherty Source Expert Review Green was added to HYDIN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 GDF1 Louise Daugherty Source Expert Review Green was added to GDF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 GAS8 Louise Daugherty Source Expert Review Green was added to GAS8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 FANCB Louise Daugherty Source Expert Review Amber was added to FANCB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 DRC1 Louise Daugherty Source Expert Review Green was added to DRC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAL1 Louise Daugherty Source Expert Review Green was added to DNAL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAJB13 Louise Daugherty Source Expert Review Green was added to DNAJB13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAI2 Louise Daugherty Source Expert Review Green was added to DNAI2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAI1 Louise Daugherty Source Expert Review Green was added to DNAI1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAH8 Louise Daugherty Source Expert Review Amber was added to DNAH8.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 DNAH5 Louise Daugherty Source Expert Review Green was added to DNAH5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAH11 Louise Daugherty Source Expert Review Green was added to DNAH11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAH1 Louise Daugherty Source Expert Review Green was added to DNAH1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF5 Louise Daugherty Source Expert Review Green was added to DNAAF5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF4 Louise Daugherty Source Expert Review Green was added to DNAAF4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF3 Louise Daugherty Source Expert Review Green was added to DNAAF3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF2 Louise Daugherty Source Expert Review Green was added to DNAAF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 DNAAF1 Louise Daugherty Source Expert Review Green was added to DNAAF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CRELD1 Louise Daugherty Source Expert Review Green was added to CRELD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CFC1 Louise Daugherty Source Expert Review Green was added to CFC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CFAP53 Louise Daugherty Source Expert Review Green was added to CFAP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 C11orf70 Louise Daugherty Source Expert Review Green was added to C11orf70.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCNO Louise Daugherty Source Expert Review Green was added to CCNO.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC65 Louise Daugherty Source Expert Review Green was added to CCDC65.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC40 Louise Daugherty Source Expert Review Green was added to CCDC40.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC39 Louise Daugherty Source Expert Review Green was added to CCDC39.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC151 Louise Daugherty Source Expert Review Green was added to CCDC151.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC114 Louise Daugherty Source Expert Review Green was added to CCDC114.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 CCDC103 Louise Daugherty Source Expert Review Green was added to CCDC103.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 C21orf59 Louise Daugherty Source Expert Review Green was added to C21orf59.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ARMC4 Louise Daugherty Source Expert Review Green was added to ARMC4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ACVR2B Louise Daugherty Source Expert Review Green was added to ACVR2B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Laterality disorders and isomerism v0.3 ACTG2 Louise Daugherty Source Expert Review Amber was added to ACTG2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Laterality disorders and isomerism v0.3 ACTC1 Louise Daugherty Source Expert Review Amber was added to ACTC1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Brain channelopathy v1.40 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Brain channelopathy v1.40 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.39 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Brain channelopathy v1.39 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Brain channelopathy v1.39 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Red List (Low Evidence).
Brain channelopathy v1.39 TBP_CAG Arianna Tucci STR: TBP_CAG was added
STR: TBP_CAG was added to Brain channelopathy. Sources: Expert Review
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: TBP_CAG was marked as current diagnostic
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.32 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.31 TBP_CAG Arianna Tucci STR: TBP_CAG was added
STR: TBP_CAG was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Expert Review
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: TBP_CAG was marked as current diagnostic
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.55 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.54 TBP_CAG Arianna Tucci Normal Number of Repeats for TBP_CAG was changed from 40 to 41.
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Marked STR: TBP_CAG as ready
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Classified STR: TBP_CAG as Green List (high evidence)
Hereditary ataxia v1.141 TBP_CAG Arianna Tucci Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.140 TBP_CAG Arianna Tucci Normal Number of Repeats for TBP_CAG was changed from 40 to 41.
Early onset or syndromic epilepsy v0.1400 POMT1 Eleanor Williams Marked gene: POMT1 as ready
Early onset or syndromic epilepsy v0.1400 POMT1 Eleanor Williams Gene: pomt1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary neuropathy v1.37 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary neuropathy v1.36 ATXN10_ATTCT Arianna Tucci STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary neuropathy. Sources: Expert Review
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Early onset or syndromic epilepsy v0.1400 POMT1 Eleanor Williams Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Early onset or syndromic epilepsy v0.1399 POMT1 Eleanor Williams Publications for gene: POMT1 were set to
Early onset dystonia v1.58 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Early onset dystonia v1.58 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Red List (Low Evidence).
Early onset dystonia v1.58 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Red List (low evidence)
Early onset dystonia v1.58 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Red List (Low Evidence).
Early onset dystonia v1.57 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Early onset dystonia v1.57 ATXN10_ATTCT Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Early onset dystonia v1.57 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dystonia v1.57 ATXN10_ATTCT Arianna Tucci Classified STR: ATXN10_ATTCT as Green List (high evidence)
Early onset dystonia v1.57 ATXN10_ATTCT Arianna Tucci Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dystonia v1.56 ATXN10_ATTCT Arianna Tucci STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Early onset dystonia. Sources: Expert Review
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Early onset or syndromic epilepsy v0.1398 POMT1 Eleanor Williams Mode of inheritance for gene: POMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1397 POMT1 Eleanor Williams Classified gene: POMT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1397 POMT1 Eleanor Williams Added comment: Comment on list classification: >3 cases of variants in this gene in patients with a relevant phenotype. £ patients reported with seizures.
Early onset or syndromic epilepsy v0.1397 POMT1 Eleanor Williams Gene: pomt1 has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.30 ATXN10_ATTCT Arianna Tucci Marked STR: ATXN10_ATTCT as ready
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.30 ATXN10_ATTCT Arianna Tucci Added comment: Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results