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Early onset or syndromic epilepsy v0.541 TSEN34 Rebecca Foulger Phenotypes for gene: TSEN34 were changed from to ?Pontocerebellar hypoplasia type 2C, 612390
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger commented on gene: TREX1: PMID:29239743 reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. 1 patient (patient 23) had a biallelic variant in TREX1 (c.341G>A) and presented with seizures. The patient presented in utero.
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger Added comment: Comment on mode of inheritance: AR and AD mode of inheritance supported by OMIM.
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger Mode of inheritance for gene: TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.538 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures
Early onset or syndromic epilepsy v0.537 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Marked gene: TRIM8 as ready
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Phenotypes for gene: TRIM8 were changed from to Early-onset epileptic encephalopathy (EOEE); EE; Seizures
Early onset or syndromic epilepsy v0.535 TRIM8 Rebecca Foulger Publications for gene: TRIM8 were set to
Early onset or syndromic epilepsy v0.534 TRIM8 Rebecca Foulger Mode of inheritance for gene: TRIM8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Classified gene: TRIM8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 6 unrelated cases of patients with EE and TRIM8 variants reviewed by the recent PMID:30244534 (includes the two cases previously reported cases in PMID:27346735 and PMID:23934111 plus 4 new cases). Therefore sufficient evidence to support inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Marked gene: TRIP13 as ready
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Classified gene: TRIP13 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 patients with seizures and TRIP13 variants reported in Yost et al., 2017 (PMID:28553959). Further cases needed for inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.531 TRIP13 Rebecca Foulger Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, 617598
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger commented on gene: TRIP13
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Tag watchlist tag was added to gene: TRIP13.
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Mode of inheritance for gene: TRIP13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Marked gene: TSEN2 as ready
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Classified gene: TSEN2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Seizures are a clinical symptom of Pontocerebellar hypoplasia in some cases, and three patients with seizures and TSEN2 variants reported (PMID:23562994, 20952379).
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.528 TSEN2 Rebecca Foulger Added comment: Comment on phenotypes: Have updated phenotype to match OMIM. According to OMIM, MIM:617026 ( Pontocerebellar hypoplasia, type 2F) is caused by variants in TSEN15.
Early onset or syndromic epilepsy v0.528 TSEN2 Rebecca Foulger Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, 612389
Early onset or syndromic epilepsy v0.527 TSEN2 Rebecca Foulger Mode of inheritance for gene: TSEN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Marked gene: TSEN54 as ready
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Classified gene: TSEN54 as Green List (high evidence)
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Seizures are a clinical phenotype of both MIM:277470 and MIM:225753. Sufficient (>3) cases of seizures in Pontocerebellar hypoplasia patients with TSEN54 variants for inclusion on panel (PMIDs 20956791,7854532,26701950,20952379).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.525 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to 20956791,7854532,26701950,20952379
Early onset or syndromic epilepsy v0.524 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to
Early onset or syndromic epilepsy v0.523 TSEN54 Rebecca Foulger Mode of inheritance for gene: TSEN54 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.522 TSEN54 Rebecca Foulger Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Marked gene: TSFM as ready
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Classified gene: TSFM as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Added comment: Comment on list classification: Rated gene as Amber: Phenotype is appropriate for panel since MIM:610505 can present with seizures. Variants in TSFM are causative for combined oxidative phosphorylation deficiency-3 (MIM:610505) but seizures reported in only 2 unrelated patients so far (PMID:17033963 and 21119709). Further reports of seizures/epilepsy as part of MIM:610505 are required for a diagnostic rating.
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Smits et al (PMID:21119709) identified a homozygous R333W mutation in a patient with MIM:610505. The patient had epilepsy.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.519 TSFM Rebecca Foulger Publications for gene: TSFM were set to
Early onset or syndromic epilepsy v0.518 TSFM Rebecca Foulger Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, 610505; seizures
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger Tag watchlist tag was added to gene: TSFM.
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger commented on gene: TSFM
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Marked gene: TUBA8 as ready
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Added comment: Comment when marking as ready: Amber rating appropriate until further TUBA8 cases are confirmed. Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, 613180 to Cortical dysplasia, complex, with other brain malformations 8, 613180; seizures
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. The phenotype is appropriate for the panel as seizures are part of MIM:613180, but insufficient cases for diagnostic rating. TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180), and TUBA8 is on the UKGTN 43 gene panel for brain malformations. HOWEVER, the 4 literature cases (with all 4 patients showing seizures) come from 2 consanguineous families reported in one 2009 paper (PMID:19896110), and at least PMID:25008804 questions whether the families are related.

Leeds, Oxford (Usha Kini) and Cardiff genetic testing labs all confirmed (personal communication via email) that they have not seen any TUBA8 cases for their cortical malformations panel.

Based on this evidence, Helen Brittain, Clinical Fellow agreed on Amber rating for TUBA8.
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Classified gene: SPPL2A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Added comment: Comment on list classification: New gene recommended by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Gene: sppl2a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.26 SPPL2A Louise Daugherty gene: SPPL2A was added
gene: SPPL2A was added to Primary immunodeficiency disorders. Sources: Literature,Expert Review
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30264912; 30127434
Phenotypes for gene: SPPL2A were set to Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity
Review for gene: SPPL2A was set to GREEN
Added comment: New gene suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) PMID:30264912. A new genetic etiology of MSMD has recently been described in three patients from two kindreds originating from Morocco and Turkey presenting Bacille Calmette‐Guerin (BCG) disease a few months after vaccination.
Rated Green due to 2 reported kindreds, functional evidence and a supporting mouse model PMID: 30264912;30127434
Sources: Literature, Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.25 Louise Daugherty List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis to A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Added comment: Comment on publications: Added publication PMID:30264912 as suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) to support mode of inheritance change to reflect both biallelic and monoallelic.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Added comment: Comment on mode of inheritance: From external review the MOI was changed from biallelic to both biallelic and monoallelic to cover the AR and AD options in the table in PMID:30264912
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Mode of inheritance for gene: IFNGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.77 C2CD3 Eleanor Williams Publications for gene: C2CD3 were set to 24997988; 27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism
and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells; 26044959
Rare multisystem ciliopathy disorders v1.76 C2CD3 Eleanor Williams commented on gene: C2CD3
Limb disorders v0.255 DDX59 Eleanor Williams Marked gene: DDX59 as ready
Limb disorders v0.255 DDX59 Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence).
Limb disorders v0.255 DDX59 Eleanor Williams Phenotypes for gene: DDX59 were changed from Polydactyly to Polydactyly; Orofaciodigital syndrome V 174300
Limb disorders v0.254 DDX59 Eleanor Williams Publications for gene: DDX59 were set to
Limb disorders v0.253 DDX59 Eleanor Williams Mode of inheritance for gene: DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.252 DDX59 Eleanor Williams Classified gene: DDX59 as Green List (high evidence)
Limb disorders v0.252 DDX59 Eleanor Williams Added comment: Comment on list classification: > 3 families/cases with Orofaciodigital syndrome including polydactyly phenotype and a variant in this gene.
Limb disorders v0.252 DDX59 Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence).
Limb disorders v0.251 DDX59 Eleanor Williams commented on gene: DDX59
Rare multisystem ciliopathy disorders v1.76 DDX59 Eleanor Williams Added comment: Comment on publications: Adding publications from Zornitza Stark
Rare multisystem ciliopathy disorders v1.76 DDX59 Eleanor Williams Publications for gene: DDX59 were set to 23972372
Rare multisystem ciliopathy disorders v1.75 DDX59 Eleanor Williams Classified gene: DDX59 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.75 DDX59 Eleanor Williams Added comment: Comment on list classification: 5 families/cases now reported with an orofaciodigital syndrome phenotype and several variants so rating this gene green.
Rare multisystem ciliopathy disorders v1.75 DDX59 Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence).
Sudden death in young people v1.10 PPP1R13L Ellen McDonagh commented on gene: PPP1R13L: This gene is not currently associated with a disease in OMIM or Gene2Phenotype.
Intellectual disability v2.529 PIK3CA Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Intellectual disability v2.529 PIK3CA Rebecca Foulger Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Marked gene: MYH14 as ready
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Gene: myh14 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Classified gene: MYH14 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Added comment: Comment on list classification: Rated Amber as there are 2 cases reported plus some functional data.
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Gene: myh14 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.118 EDNRB Eleanor Williams commented on gene: EDNRB: EDNRB is associated with ABCD syndrome, Waardenburg syndrome, type 4A and {Hirschsprung disease, susceptibility to, 2} in OMIM and ABCD SYNDROME in Gene2Phenotype. Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine and patients with Waardenburg syndrome can show Hirschsprung disease. Hirschspring disease is covered by the Familial Hirschsprung Disease panel in PanelApp.
Sudden death in young people v1.10 PPP1R13L Ellen McDonagh gene: PPP1R13L was added
gene: PPP1R13L was added to Sudden death in young people. Sources: Literature
watchlist tags were added to gene: PPP1R13L.
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676
Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death
Added comment: PMID: 28069640 describes a large extended family pedigree, with 5 affected infants with Dilated cardiomyopathy who all died before the age of 3. A SNP predicted to cause a premature termination codon was identified c.2241C > G, p.Tyr747Ter in 3 affected patients as homozygous status and heterozygous in the patients. Sequencing was unavailable for two affected sisters.
Sources: Literature
Malformations of cortical development v1.157 MTOR Rebecca Foulger Classified gene: MTOR as Green List (high evidence)
Malformations of cortical development v1.157 MTOR Rebecca Foulger Added comment: Comment on list classification: Promoted from Amber to Green due to ID panel review there is enough evidence to support MTOR and Focal cortical dysplasia, type II.
Malformations of cortical development v1.157 MTOR Rebecca Foulger Gene: mtor has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.74 ICK Rebecca Foulger Classified gene: ICK as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.74 ICK Rebecca Foulger Added comment: Comment on list classification: Added gene to panel as Green: Sufficient (3) cases of ICK variants in Endocrine-cerebroosteodysplasia (ECO) patients plus functional studies showing role of ICK in ciliogenesis. A second ECO patient reported in PMID:27069622 showed phenotypes resembling short-rib thoracic dysplasia with polydactyly (SRTD), and the authors say this provides additional support for inclusion of ECO syndrome in the severe ciliary disease spectrum. Helen Brittain confirmed the Green rating saying the phenotype overlaps with Jeune syndrome, and in view of the skeletal, polydactyly, cystic kidney aspects of this disorder HB is happy there is sufficient overlap for inclusion.

plus
Rare multisystem ciliopathy disorders v1.74 ICK Rebecca Foulger Gene: ick has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.73 ICK Rebecca Foulger commented on gene: ICK
Rare multisystem ciliopathy disorders v1.73 ICK Rebecca Foulger gene: ICK was added
gene: ICK was added to Rare multisystem ciliopathy disorders. Sources: Literature
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 27466187
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD)
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Marked gene: CDX2 as ready
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Classified gene: CDX2 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Added comment: Comment on list classification: 2 cases (conference abstract) plus functional evidence so rating Amber.
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Classified gene: TTC7A as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Added comment: Comment on list classification: Rating as red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Gene: ttc7a has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Marked gene: RFX6 as ready
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Classified gene: RFX6 as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Added comment: Comment on list classification: Rating this gene red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Marked gene: RECQL4 as ready
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Gene: recql4 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome 218600 to Baller-Gerold syndrome 218600; Rothmund-Thomson syndrome 268400
Non-syndromic familial congenital anorectal malformations v0.114 RECQL4 Eleanor Williams Publications for gene: RECQL4 were set to 15964893; 28358413
Rare multisystem ciliopathy disorders v1.72 IFT27 Rebecca Foulger Classified gene: IFT27 as Amber List (moderate evidence)
Rare multisystem ciliopathy disorders v1.72 IFT27 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber based on presence of second paper: PMID:29704304 (2018) with ciliopathy phenotype, and added 'watchlist' tag.
Rare multisystem ciliopathy disorders v1.72 IFT27 Rebecca Foulger Gene: ift27 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Classified gene: RECQL4 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Added comment: Comment on list classification: Rating as green as 3 cases/families with probands with either imperforate anus or anus anteposition and a variant in RECQL4 (PMIDs: 15964893, 19291770, 24635570)
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Gene: recql4 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.71 IFT27 Rebecca Foulger commented on gene: IFT27
Rare multisystem ciliopathy disorders v1.71 IFT52 Rebecca Foulger commented on gene: IFT52: PMID:26880018 (2016, included in Alice's review) examined a child from a consanguineous Indian family who had skeletal dysplasia and additional phenotypes including short hands and feet and postaxial polydactyly. WES revealed a nonsense variant p.R142X in IFT52. The proband's unaffected consanguineous parents were heterozygous for the mutation.

PMID:27466190 (Zhang 2016, from Zornitza's review) report a non-consanguineous family with two fetuses affected by MIM:617102 without polydactyly, and compound heterozygous variant in IFT52. The authors also present functional data for ciliopathies.

PMID:30242358 (2018, Chen et al) provide a third case: They identified a homozygous missense variation in IFT52, c.556A>G (p.T186A), carried by a patient with syndromic ciliopathy, presenting mild SRTD (skeletal ciliopathy) and Liber congenital amaurosis. The variant was absent in both unaffected siblings. This report expands ocular phenotypes of IFT52 mutation-caused ciliopathy to include retinal ciliopathy, and also provides functional information for the role of IFT52 in primary ciliary function.
Rare multisystem ciliopathy disorders v1.71 IFT52 Rebecca Foulger Publications for gene: IFT52 were set to 26880018
Rare multisystem ciliopathy disorders v1.70 IFT52 Rebecca Foulger Classified gene: IFT52 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.70 IFT52 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: The 2018 paper (PMID:30242358) takes the number of literature cases of IFT52 homozgyous variants causative for ciliopathy to THREE. Plus functional evidence for role of IFT52 in cilial function (PMIDs:27466190 and 30242358).
Rare multisystem ciliopathy disorders v1.70 IFT52 Rebecca Foulger Gene: ift52 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Marked gene: MYCN as ready
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Added comment: Comment on list classification: Keep Amber rating as only 1 confirmed case of anal atresia and a variant in MYCN. Another case of a patient with Feingold syndrome 1 and anal atresia has been reported but no gene analysis.
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.69 SUFU Rebecca Foulger Classified gene: SUFU as Amber List (moderate evidence)
Rare multisystem ciliopathy disorders v1.69 SUFU Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. Probable DD-G2P gene for Joubert Syndrome. 2 unrelated families from 1 paper. Biochemical assays in the paper (PMID:28965847) show that SUFU missense variants impair GLI3 binding, but further cases and/or animal model required for diagnostic rating.
Rare multisystem ciliopathy disorders v1.69 SUFU Rebecca Foulger Gene: sufu has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.68 TXNDC15 Rebecca Foulger Classified gene: TXNDC15 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.68 TXNDC15 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: 3 Meckel-Gruber patients with 3 different TXNDC15 variants reported in PMID:27894351 (2 consanguineous Saudi and Pakistani) plus functional data (Patient fibroblasts had aberrant ciliogenesis). Helen Brittain confirms that sufficient variants and appropriate phenotype for inclusion on panel.
Rare multisystem ciliopathy disorders v1.68 TXNDC15 Rebecca Foulger Gene: txndc15 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.111 CASK Eleanor Williams Marked gene: CASK as ready
Non-syndromic familial congenital anorectal malformations v0.111 CASK Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.111 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.110 CASK Eleanor Williams Mode of inheritance for gene: CASK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Marked gene: MNX1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Gene: mnx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Marked gene: MID1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Added comment: Comment on phenotypes: Added Gene2Phenotype phenotype
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I 300000 to Opitz GBBB syndrome, type I 300000; OPITZ G/BBB SYNDROME, X-LINKED
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams Marked gene: MED12 as ready
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams Gene: med12 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams commented on gene: MED12: Note that in Gene2Phenotype the Mutation consequence summary is "uncertain".
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Marked gene: GLI3 as ready
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Phenotypes for gene: GLI3 were changed from anorectal malformation to anorectal malformation; Pallister-Hall syndrome 146510
Non-syndromic familial congenital anorectal malformations v0.107 GLI3 Eleanor Williams Publications for gene: GLI3 were set to
Non-syndromic familial congenital anorectal malformations v0.106 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Marked gene: FOXF1 as ready
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.105 ZIC3 Eleanor Williams Phenotypes for gene: ZIC3 were changed from anorectal malformation; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERL Association, X-linked; VACTERLX 314390 to anorectal malformation; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERL Association, X-linked 314390; VACTERLX 314390
Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM and Gene2Phenotype
Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Phenotypes for gene: FANCB were changed from Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus to Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus; Fanconi anemia, complementation group B 300514; FANCB-RELATED FANCONI ANEMIA
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Marked gene: FAM58A as ready
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Added comment: Comment when marking as ready: Marked as ready, but noted that only Build 38 Ensembl gene is listed.
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Gene: fam58a has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 CDX1 Eleanor Williams Marked gene: CDX1 as ready
Non-syndromic familial congenital anorectal malformations v0.103 CDX1 Eleanor Williams Gene: cdx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Marked gene: ZIC3 as ready
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Added comment: Comment when marking as ready: Gene checked.
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Marked gene: FANCB as ready
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Gene: fancb has been classified as Green List (High Evidence).
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Tag watchlist tag was added to gene: ADPRHL2.
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Classified gene: ADPRHL2 as Amber List (moderate evidence)
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer as Amber. However, majority of people have seizures and only a minority have some intellectual component and this seems to later onset /developmental regression, the clinical picture is one of a stress-induced neurodegenerative disease of variable progression with developmental delay, intellectual disability, mild cerebellar atrophy and recurring seizures. However I am not sure if this gene is within the scope of the ID panel and as they all present with seizures so is better presented on Genetic Epilepsy Syndromes panel. So pending further cases/evidence will leave gene as Amber and watchlist
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Classified gene: PEX10 as Green List (high evidence)
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Gene: pex10 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.514 PEX10 Sarah Leigh gene: PEX10 was added
gene: PEX10 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 20695019
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870
Review for gene: PEX10 was set to GREEN
Added comment: Associated with phenotypes in OMIM and confirmed in Gen2Phen. At least 4 variants in Peroxisome biogenesis disorder 6A (Zellweger) 614870 in at least 2 cases which includes hepatomegaly (according to Gen2Phen). Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Classified gene: PEX13 as Green List (high evidence)
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Gene: pex13 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.512 PEX13 Sarah Leigh gene: PEX13 was added
gene: PEX13 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 10332040; 19449432
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883
Review for gene: PEX13 was set to GREEN
Added comment: Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883. Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Intellectual disability v2.527 CUX2 Louise Daugherty Classified gene: CUX2 as Green List (high evidence)
Intellectual disability v2.527 CUX2 Louise Daugherty Added comment: Comment on list classification: More than three unrelated individuals reported in the literature, ID is part of the phenotype. Recent publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.527 CUX2 Louise Daugherty Gene: cux2 has been classified as Green List (High Evidence).
Intellectual disability v2.526 CUX2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from OMIM/MIMid and external review
Intellectual disability v2.526 CUX2 Louise Daugherty Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, 618141; Seizures; Intellectual disability; Autistic behavior
Intellectual disability v2.525 CUX2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from publication and external review
Intellectual disability v2.525 CUX2 Louise Daugherty Mode of inheritance for gene: CUX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability v2.524 CUX2 Louise Daugherty Added comment: Comment on publications: added publications suggested by external reviewer which support gene-disease association and rating of this gene to Green. Intellectual disability is a prominent feature, all nine unrelated patients reported by PubMed: 29630738 had severe intellectual disability, and 7 were nonverbal.
Intellectual disability v2.524 CUX2 Louise Daugherty Publications for gene: CUX2 were set to 21331220; 26350204
Intellectual disability v2.523 GTPBP2 Louise Daugherty Classified gene: GTPBP2 as Green List (high evidence)
Intellectual disability v2.523 GTPBP2 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green. At least 4 variants homozygous variants identified in 4 unrelated cases, common features included developmental delay and severe intellectual disability.
Intellectual disability v2.523 GTPBP2 Louise Daugherty Gene: gtpbp2 has been classified as Green List (High Evidence).
Intellectual disability v2.522 GTPBP2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from OMIM and MIMid
Intellectual disability v2.522 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome, 617988; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Added comment: Comment on phenotypes: added additional phenotype suggested by external reviewer
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome 617988 to Jaberi-Elahi syndrome 617988; Global developmental delay; Intellectual disability; Seizures
Intellectual disability v2.521 IRF2BPL Louise Daugherty Added comment: Comment on phenotypes: added MIMid from OMIM and phenotype data
Intellectual disability v2.521 IRF2BPL Louise Daugherty Phenotypes for gene: IRF2BPL were changed from Global developmental delay; Developmental regression; Seizures; Ataxia to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Global developmental delay, Developmental regression, Seizures, Ataxia
Intellectual disability v2.520 IRF2BPL Louise Daugherty Classified gene: IRF2BPL as Green List (high evidence)
Intellectual disability v2.520 IRF2BPL Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.520 IRF2BPL Louise Daugherty Gene: irf2bpl has been classified as Green List (High Evidence).
Intellectual disability v2.519 IRF2BPL Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer. PMID: 30166628 is a recent publication on IRF2BPL-related phenotypes and reports on 11 unrelated individuals with de novo heterozygous truncating variants. Most individuals displayed complex neurological phenotypes, including delayed psychomotor development, variable Intellectual disability, developmental stagnation or cognitive decline preceded, accompanied or followed by the onset of seizures
Intellectual disability v2.519 IRF2BPL Louise Daugherty Publications for gene: IRF2BPL were set to 30057031; 28135719; 25363768
Intellectual disability v2.518 RORA Louise Daugherty Classified gene: RORA as Green List (high evidence)
Intellectual disability v2.518 RORA Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three affected individuals from unrelated families reported with at least 5 variants in this gene being reported, Intellectual disability was reported in the majority of cases and is a main feature of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.518 RORA Louise Daugherty Gene: rora has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Classified gene: SLC1A4 as Green List (high evidence)
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Gene: slc1a4 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.66 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Review for gene: SLC1A4 was set to GREEN
Added comment: From review left on the Genetic Epilepsy Syndromes panel by Zornitza Stark (Australian Genomics) 4 Sep 2018, 3:29 a.m. Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants.
Genomics England clinical team also thought the gene was relevant to the Hereditary spastic paraplegia.
Sources: Expert Review
Intellectual disability v2.517 SLC1A4 Louise Daugherty Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability v2.517 SLC1A4 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.517 SLC1A4 Louise Daugherty Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability v2.516 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability. Sources: Expert Review
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Intellectual disability
Review for gene: SLC1A4 was set to GREEN
Added comment: From review left on the Genetic Epilepsy Syndromes panel by Zornitza Stark (Australian Genomics) 4 Sep 2018, 3:29 a.m. Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants. Gene is also relevant to the ID panel.
Sources: Expert Review
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Classified gene: KCNK4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Added comment: Comment on list classification: Based on evidence in the literature and from external review, Sarah Leigh on 16 Oct 2018 classified gene: KCNK4 as Green List (high evidence) on Genetic Epilepsy Syndromes panel v0.504. However, due to a data outage in PanelApp at the time the rating of this particular gene on this panel was not updated eg: the rating of a gene was changed, but was not reflected in production however action was logged in the activity. Issue has now been solved so the rating of this gene is now being changed to Green as it will now be reflected in production to represent the required update
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Gene: kcnk4 has been classified as Green List (High Evidence).
Intellectual disability v2.515 PCGF2 Louise Daugherty Mode of pathogenicity for gene: PCGF2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v2.514 PCGF2 Louise Daugherty Added comment: Comment on publications: Added PMID: 30343942 to support upgrading of this gene to green
Intellectual disability v2.514 PCGF2 Louise Daugherty Publications for gene: PCGF2 were set to 25529582; 25533962
Intellectual disability v2.513 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system to Intellectual disability; dysmorphic features; Global developmental delay; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability v2.512 PCGF2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by external reviewer/ from PMID:30343942
Intellectual disability v2.512 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features to Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability v2.511 PCGF2 Louise Daugherty Classified gene: PCGF2 as Green List (high evidence)
Intellectual disability v2.511 PCGF2 Louise Daugherty Added comment: Comment on list classification: Recent publication suggested by external reviewer PMID: 30343942 supports the rating of this gene to be Green
Intellectual disability v2.511 PCGF2 Louise Daugherty Gene: pcgf2 has been classified as Green List (High Evidence).
Intellectual disability v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability v2.510 PCGF2 Louise Daugherty Deleted their comment
Intellectual disability v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability v2.510 PCGF2 Louise Daugherty Tag watchlist was removed from gene: PCGF2.
Clefting v1.32 DVL3 Louise Daugherty Classified gene: DVL3 as Green List (high evidence)
Clefting v1.32 DVL3 Louise Daugherty Added comment: Comment on list classification: changed rating from Red to Green. There is enough evidence to support the upgrading of the rating of this gene
Clefting v1.32 DVL3 Louise Daugherty Gene: dvl3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Added comment: Comment on phenotypes: Added phenotype as suggested by external review and checked with OMIM
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Added comment: Comment on mode of inheritance: updated MOI as suggested by external reviewer
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Mode of inheritance for gene: RAB11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.510 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Undiagnosed metabolic disorders v1.78 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Structural basal ganglia disorders v1.8 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Hyperammonaemia v1.8 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Ketotic hypoglycaemia v1.2 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Ketotic hypoglycaemia v1.2 MUT Louise Daugherty commented on gene: MUT
Hyperammonaemia v1.8 MUT Louise Daugherty commented on gene: MUT
Structural basal ganglia disorders v1.8 MUT Louise Daugherty commented on gene: MUT
Undiagnosed metabolic disorders v1.78 MUT Louise Daugherty commented on gene: MUT
Intellectual disability v2.510 MUT Louise Daugherty commented on gene: MUT
Unexplained kidney failure in young people v1.19 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Undiagnosed metabolic disorders v1.78 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Proteinuric renal disease v1.11 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Unexplained kidney failure in young people v1.19 GIF Louise Daugherty commented on gene: GIF
Undiagnosed metabolic disorders v1.78 GIF Louise Daugherty commented on gene: GIF
Proteinuric renal disease v1.11 GIF Louise Daugherty commented on gene: GIF
Skeletal dysplasia v1.127 WISP3 Louise Daugherty commented on gene: WISP3
Skeletal dysplasia v1.127 WISP3 Louise Daugherty Tag new-gene-name tag was added to gene: WISP3.
Congenital disorders of glycosylation v1.19 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28733338, 30221345; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Short QT syndrome v0.1 ABCC9 Jules Hancox gene: ABCC9 was added
gene: ABCC9 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: ABCC9 was set to Unknown
Publications for gene: ABCC9 were set to 21383000; 15569843; 27283775
Phenotypes for gene: ABCC9 were set to short qt; ventricular tachycardia; atrial fibrillation
Mode of pathogenicity for gene: ABCC9 was set to Other
Review for gene: ABCC9 was set to RED
Added comment: Would likely be gain of function mutations.

The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. ABCC9 encodes Sur2A and Sur2B which are components of the K(ATP) channel.

Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with KCNJ2 (another component of the KATP channel.

A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype.
Sources: Literature
Short QT syndrome v0.1 KCNJ8 Jules Hancox gene: KCNJ8 was added
gene: KCNJ8 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNJ8 was set to Unknown
Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775
Phenotypes for gene: KCNJ8 were set to short qt; ventricular tachycardia; atrial fibrillation
Mode of pathogenicity for gene: KCNJ8 was set to Other
Review for gene: KCNJ8 was set to RED
Added comment: Would be gain of function mutations.

The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. KCNJ8 encodes Kir6.1 which is a component of the K(ATP) channel.

Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with SUR2A (another component of the KATP channel.

A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.22 IKBKB Zornitza Stark reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30337470; Phenotypes: combined immune deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.510 REEP1 Eleanor Williams Deleted their review
Intellectual disability v2.510 REEP1 Eleanor Williams commented on gene: REEP1
Limb disorders v0.249 RBM10 Eleanor Williams commented on gene: RBM10
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Clefting v1.31 DVL3 Louise Daugherty gene: DVL3 was added
gene: DVL3 was added to Clefting. Sources: Other
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 26924530; 29575616
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Review for gene: DVL3 was set to GREEN
Added comment: PMID: 26924530 White et al. (2016) described five patients with Robinow syndrome-3 and identified heterozygosity for mutations in DVL3, all predicted to result in a frameshift to the -1 reading frame and a premature termination codon in the last exon.
From Gel clinical team: Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients. Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome.
Sources: Other
Non-syndromic familial congenital anorectal malformations v0.103 RECQL4 Eleanor Williams edited their review of gene: RECQL4: Changed publications: 24635570, 22347665, 1583650
Early onset or syndromic epilepsy v0.507 MFSD8 Louise Daugherty edited their review of gene: MFSD8: Changed publications: 30249282, 30144815, 30301600, 28586915
Non-syndromic familial congenital anorectal malformations v0.103 RECQL4 Eleanor Williams commented on gene: RECQL4: From Genomics England clinical team:

PMID:24635570 1 individual with anteriorly placed anus and RECQL4 mutation (diagnosed with Rothmund-Thomson syndrome)
PMID: 22347665 1 individual with Baller-Gerold syndrome and imperforate anus, no mutational analysis
PMID: 1583650 1 individual as above, also mentions 10 other reported cases of BGS, all with anteriorly placed anus; no mutational analysis
Early onset or syndromic epilepsy v0.507 MFSD8 Louise Daugherty reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28586915; Phenotypes: MFSD8-related neuronal ceroid lipofuscinosis, CLN7 disease, late infantile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19046187; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark Deleted their review
Early onset or syndromic epilepsy v0.507 TRIM8 Zornitza Stark edited their review of gene: TRIM8: Added comment: Please note new publication reporting 4 additional patients presenting with EE and de novo truncating mutations of TRIM8.; Changed rating: GREEN; Changed publications: 27346735, 30244534; Set current diagnostic: yes
Early onset or syndromic epilepsy v0.507 CACNA1E Zornitza Stark reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: None; Publications: Am J Hum Genet, Helbig et al, not yet on PubMed; Phenotypes: epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.510 EMC1 Konstantinos Varvagiannis gene: EMC1 was added
gene: EMC1 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 26942288; 29271071
Phenotypes for gene: EMC1 were set to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM 616875
Penetrance for gene: EMC1 were set to Complete
Review for gene: EMC1 was set to GREEN
gene: EMC1 was marked as current diagnostic
Added comment: Harel et al. (PMID: 26942288) describe 7 individuals from 3 families with biallelic pathogenic variants in EMC1.

In the first family, a single individual (born to non-consanguineous parents) was found to harbor a homozygous frameshift variant in a small (approx. 100 kb) stretch of absence of heterozygosity. The patients in the other two families were homozygous for missense variants (private to each family) in the context of parental consanguinity.

The common phenotype was suggestive of a progressive neurodegenerative disorder and consisted of hypotonia, severe developmental delay with marked speech delay, diminished deep tendon reflexes, cerebellar atrophy, vision as well as skeletal problems. Seizures were a feature in one subject.

One further patient from an additional (fourth) family was found to have a similar but milder phenotype and was only found to harbor a de novo missense variant in EMC1 following trio exome sequencing. Sanger sequencing of the promoter region as well as CNV calling from the exome data failed to reveal other variants in this specific individual.

Similarly to what has been observed in other genes the authors propose that both monoallelic and biallelic pathogenic variants may be causative of the specific phenotype, though the presentation may be more severe in case of biallelic variants.

Altogether this study reports 1 homozygous frameshift and 3 missense variants (2 of the latter found in homozygous state and one as a de novo heterozygous mutation). //

Geetha et al. (PMID: 29271071) describe an individual born to consanguineous parents presenting with hypotonia, developmental delay, and cerebellar atrophy as well as early onset epilepsy. Exome sequencing demonstrated a homozygous splice variant in EMC1. This variant was demonstrated to result to retention of intron 11 upon RNA sequencing. This was predicted to lead to premature truncation of the protein. //

EMC1 is associated in OMIM with Cerebellar atrophy, visual impairment, and psychomotor retardation (MIM 616875) for which an autosomal recessive inheritance mode is retained. //

Apart from the variants reported in the previous studies [p.Pro874Argfs*21, p.Thr82Met, p.Gly868Arg, p.Gly471Arg, c.1212+1G>A - NM_015047.2] further variants have been submitted in ClinVar as likely pathogenic (Variation IDs : 521479, 445564). //

The gene has been included in intellectual disability gene panels offered by a few other diagnostic labs. //

As a result this gene can be considered for inclusion in the panel as green (or amber).
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.507 CACNA1E Konstantinos Varvagiannis gene: CACNA1E was added
gene: CACNA1E was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 29942082
Phenotypes for gene: CACNA1E were set to Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly
Penetrance for gene: CACNA1E were set to Incomplete
Mode of pathogenicity for gene: CACNA1E was set to Other
Review for gene: CACNA1E was set to GREEN
Added comment: Helbig et al. (https://doi.org/10.1016/j.ajhg.2018.09.006) report on 30 individuals with pathogenic variants in CACNA1E.

The phenotype was consistent with a developmental and epileptic encephalopathy, with hypotonia, early-onset and refractory seizures, severe to profound developmental delay and intellectual disability. Additional relatively common features included hyperkinetic movement disorder (severe dystonia which was observed in 40%, other dyskinesias in another 20%), congenital joint contractures of variable degree and joint involvement (approx. 40% of individuals) and macrocephaly (approx. 40%). There were no common facial dysmorphic features observed.

Of note, epilepsy was not a feature in 4 cases (age 1 to 4 years) so few of these individuals may be investigated for their developmental delay/intellectual disability or other features.

Missense variants:
All the 30 subjects described harbored a missense variant in CACNA1E which in all cases where parental studies were possible (29/30) occurred as a de novo event. There were 4 recurrent variants, explaining the phenotype in 20 patients in total while the rest of the individuals had private mutations. Functional studies were performed and suggested a gain-of-function effect for these variants (increased calcium inward currents).

Loss-of-function (LoF) variants:
Apart from the main cohort of patients, the authors note the presence of 3 individuals with such variants incl.:
- one individual with a nonsense variant present in the mosaic state (6/22 reads) in peripheral blood.
- one individual with a frameshift variant inherited from his unaffected parent.
- one individual with a nonsense variant for whom parental studies were not possible.

The authors comment that these indivdiduals presented with milder phenotype compared to those with missense variants. More information on these subjects is provided in the supplement as the article focuses on missense SNVs.

As the authors also note, several LoF variants exist in gnomAD, although the gene appears to be LoF intolerant (pLI=1).

Penetrance:
Seems to be complete for missense SNVs and possibly incomplete for LoF ones.

---

A previous study by Heyne et al. (PMID: 29942082) implicated de novo variants (DNVs) in CACNA1E with neurodevelopmental disorders for the first time. This study however does not provide clinical details on the phenotype of the affected individuals, while it seems to present overlap as to the individuals reported (eg. includes subjects from the DDD study and others).

---

Details as to a few - possibly further - de novo coding variants reported to date can be found at the denovo-db:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=CACNA1E

---

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Intellectual disability v2.510 CACNA1E Konstantinos Varvagiannis gene: CACNA1E was added
gene: CACNA1E was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 29942082
Phenotypes for gene: CACNA1E were set to Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly
Penetrance for gene: CACNA1E were set to Incomplete
Mode of pathogenicity for gene: CACNA1E was set to Other
Review for gene: CACNA1E was set to GREEN
Added comment: Helbig et al. (https://doi.org/10.1016/j.ajhg.2018.09.006) report on 30 individuals with pathogenic variants in CACNA1E.

The phenotype was consistent with a developmental and epileptic encephalopathy, with hypotonia, early-onset and refractory seizures, severe to profound developmental delay and intellectual disability. Additional relatively common features included hyperkinetic movement disorder (severe dystonia which was observed in 40%, other dyskinesias in another 20%), congenital joint contractures of variable degree and joint involvement (approx. 40% of individuals) and macrocephaly (approx. 40%). There were no common facial dysmorphic features observed.

Of note, epilepsy was not a feature in 4 cases (age 1 to 4 years) so few of these individuals may be investigated for their developmental delay/intellectual disability or other features.

Missense variants:
All the 30 subjects described harbored a missense variant in CACNA1E which in all cases where parental studies were possible (29/30) occurred as a de novo event. There were 4 recurrent variants, explaining the phenotype in 20 patients in total while the rest of the individuals had private mutations. Functional studies were performed and suggested a gain-of-function effect for these variants (increased calcium inward currents).

Loss-of-function (LoF) variants:
Apart from the main cohort of patients, the authors note the presence of 3 individuals with such variants incl.:
- one individual with a nonsense variant present in the mosaic state (6/22 reads) in peripheral blood.
- one individual with a frameshift variant inherited from his unaffected parent.
- one individual with a nonsense variant for whom parental studies were not possible.

The authors comment that these indivdiduals presented with milder phenotype compared to those with missense variants. More information on these subjects is provided in the supplement as the article focuses on missense SNVs.

As the authors also note, several LoF variants exist in gnomAD, although the gene appears to be LoF intolerant (pLI=1).

Penetrance:
Seems to be complete for missense SNVs and possibly incomplete for LoF ones.

---

A previous study by Heyne et al. (PMID: 29942082) implicated de novo variants (DNVs) in CACNA1E with neurodevelopmental disorders for the first time. This study however does not provide clinical details on the phenotype of the affected individuals, while it seems to present overlap as to the individuals reported (eg. includes subjects from the DDD study and others).

---

Details as to a few - possibly further - de novo coding variants reported to date can be found at the denovo-db:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=CACNA1E

---

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Classified gene: ADAT3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Added comment: Comment on list classification: Based one only two variants one of which is a founder
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Gene: adat3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.510 DLG4 Konstantinos Varvagiannis reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29460436, 27479843, 28135719, 23020937; Phenotypes: Intellectual disability, Marfanoid habitus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 PCGF2 Konstantinos Varvagiannis reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of the cardiovascular system, Abnormality of the cerebrum, Abnormality of the skeletal system; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.103 CASK Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 MED12 Charles Shaw-Smith reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Charles Shaw-Smith reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 SALL1 Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Townes-Brocks; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Currarino syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Opitz GBBB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pallister-Hall syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple gastro-intestinal atresias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.249 DVL2 Eleanor Williams Marked gene: DVL2 as ready
Limb disorders v0.249 DVL2 Eleanor Williams Gene: dvl2 has been classified as Red List (Low Evidence).
Limb disorders v0.249 DVL2 Eleanor Williams commented on gene: DVL2
Limb disorders v0.249 DLX6 Eleanor Williams commented on gene: DLX6
Limb disorders v0.249 POLL Sarah Leigh Marked gene: POLL as ready
Limb disorders v0.249 POLL Sarah Leigh Gene: poll has been classified as Red List (Low Evidence).
Limb disorders v0.249 PIK3CA Sarah Leigh Tag mosaicism tag was added to gene: PIK3CA.
Tag somatic tag was added to gene: PIK3CA.
Limb disorders v0.249 CKAP2L Eleanor Williams Marked gene: CKAP2L as ready
Limb disorders v0.249 CKAP2L Eleanor Williams Gene: ckap2l has been classified as Green List (High Evidence).
Limb disorders v0.249 IFT43 Eleanor Williams Marked gene: IFT43 as ready
Limb disorders v0.249 IFT43 Eleanor Williams Added comment: Comment when marking as ready: After review of literature, only 2 cases to date have been reported.
Limb disorders v0.249 IFT43 Eleanor Williams Gene: ift43 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.249 MIR17HG Sarah Leigh Marked gene: MIR17HG as ready
Limb disorders v0.249 MIR17HG Sarah Leigh Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Limb disorders v0.249 IFT43 Eleanor Williams Classified gene: IFT43 as Amber List (moderate evidence)
Limb disorders v0.249 IFT43 Eleanor Williams Added comment: Comment on list classification: Only 2 cases/families to date
Limb disorders v0.249 IFT43 Eleanor Williams Gene: ift43 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Classified gene: CSTB as Green List (high evidence)
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Added comment: Comment on list classification: Changing rating to green in agreement with reviews
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Gene: cstb has been classified as Green List (High Evidence).
Intellectual disability v2.510 ZNF81 Deleted their review
Intellectual disability v2.510 ZNF81 reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: 12345; Phenotypes: test phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v0.1 SLC4A3 Jules Hancox gene: SLC4A3 was added
gene: SLC4A3 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308
Phenotypes for gene: SLC4A3 were set to short QT; ventricular fibrillation; cardiac arrest
Review for gene: SLC4A3 was set to GREEN
Added comment: The Nature Communications paper reporting this association presents strong evidence for causal link to SQTS. This variant of the SQTS was found from exome sequencing. Mutation leads to altered pHi and decrease in intracellular chloride, which in turn abbreviates repolarization. The final mediator(s) of these actions remain to be elucidated.
Sources: Literature
Limb disorders v0.248 CKAP2L Eleanor Williams Phenotypes for gene: CKAP2L were changed from Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Limb disorders v0.248 CKAP2L Eleanor Williams Phenotypes for gene: CKAP2L were changed from Polydactyly to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Limb disorders v0.248 CKAP2L Eleanor Williams Publications for gene: CKAP2L were set to
Limb disorders v0.248 CKAP2L Eleanor Williams Mode of inheritance for gene: CKAP2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.248 CKAP2L Eleanor Williams Classified gene: CKAP2L as Green List (high evidence)
Limb disorders v0.248 CKAP2L Eleanor Williams Added comment: Comment on list classification: Plausible disease causing variants in > 3 families.
Limb disorders v0.248 CKAP2L Eleanor Williams Gene: ckap2l has been classified as Green List (High Evidence).
Limb disorders v0.247 CKAP2L Eleanor Williams commented on gene: CKAP2L
Short QT syndrome v0.1 SLC22A5 Jules Hancox gene: SLC22A5 was added
gene: SLC22A5 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC22A5 were set to PMID: 7254270; 7131143; 26190315; 29198778
Phenotypes for gene: SLC22A5 were set to arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency
Review for gene: SLC22A5 was set to GREEN
Added comment: SLC22A5 loss of function mutations lead to defective OCTN2, which leads to primary carnitine deficiency.

PCD has been recognised for a long time. Autosomal recessive, although some heterozygotes can display symptoms. PCD impairs carnitine uptake into cardiac myocytes, leads to impaired long chain fatty acid uptake into mitochondria. It leads to a cardiomyopathy (dilated) and there is an association with arrhytomogenesis. There is now good evidence that PCD produces a short QT phenoype in humans and in an animal model, though the precise mechanism is unknown. It is important to include SLC22A5 screening on a panel for SQTS, particularly where there is evidence for cardiomyopathy, because when it is identified it can be treated with dietary L-carnitine supplementation.

Additional case report: https://www.hindawi.com/journals/cric/2018/3232105/
Sources: Literature
Limb disorders v0.247 CCND2 Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.246 CD96 Eleanor Williams Classified gene: CD96 as Red List (low evidence)
Limb disorders v0.246 CD96 Eleanor Williams Added comment: Comment on list classification: Leaving rating at red as only 1 reported case of a patient with limb abnormalities and a putative pathogenic variant in CD96
Limb disorders v0.246 CD96 Eleanor Williams Gene: cd96 has been classified as Red List (Low Evidence).
Limb disorders v0.246 CD96 Eleanor Williams Phenotypes for gene: CD96 were changed from Polydactyly to Polydactyly; C syndrome 211750
Limb disorders v0.246 CD96 Eleanor Williams Publications for gene: CD96 were set to
Limb disorders v0.245 CD96 Eleanor Williams Marked gene: CD96 as ready
Limb disorders v0.245 CD96 Eleanor Williams Added comment: Comment when marking as ready: Literature has been reviewed.
Limb disorders v0.245 CD96 Eleanor Williams Gene: cd96 has been classified as Red List (Low Evidence).
Short QT syndrome v0.1 SCN10A Jules Hancox gene: SCN10A was added
gene: SCN10A was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SCN10A was set to Unknown
Publications for gene: SCN10A were set to PMID:30177317
Phenotypes for gene: SCN10A were set to sudden death; J wave syndrome; short QT
Review for gene: SCN10A was set to RED
Added comment: This is a very recent report. The evidence that the index patient had short QT is high. Causality is inferred rather than demonstrated functionally through cellular electrophysiology.

There is growing evidence for role of SCN10A in heart

Despite the rating, I would recommend including this on the gene panel as the SQTS is rare and has a low success rate with targeted genotyping. It is possible that the association with SCN10A is stronger and so inclusion would be prudent
Sources: Literature
Short QT syndrome v0.1 SCN5A Jules Hancox gene: SCN5A was added
gene: SCN5A was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SCN5A was set to Unknown
Publications for gene: SCN5A were set to PMID: 22490985; 29697308
Phenotypes for gene: SCN5A were set to short qt; Brugada; family history of sudden death
Review for gene: SCN5A was set to GREEN
Added comment: Evidence of causality is there, but isolated case. Arguably "amber" evidence.

Loss of function
Sources: Literature
Short QT syndrome v0.1 CACNA2D1 Jules Hancox gene: CACNA2D1 was added
gene: CACNA2D1 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308
Phenotypes for gene: CACNA2D1 were set to short qt; aborted sudden death; Brugada syndrome
Review for gene: CACNA2D1 was set to GREEN
Added comment: Responsible for SQT6 variant of the SQTS.

Variable expressivity/penetrance

Functional evidence for loss of function
Sources: Literature
Short QT syndrome v0.1 CACNB2 Jules Hancox gene: CACNB2 was added
gene: CACNB2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541
Phenotypes for gene: CACNB2 were set to short qt; brugada syndrome
Review for gene: CACNB2 was set to GREEN
Added comment: Mutations are to an accessory subunit for L-type Ca channels. Mixed SQTS and Brugada phenotype.

Loss of function mutations.
Sources: Literature
Short QT syndrome v0.1 CACNA1C Jules Hancox gene: CACNA1C was added
gene: CACNA1C was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308
Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd
Review for gene: CACNA1C was set to GREEN
Added comment: Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype
Sources: Literature
Short QT syndrome v0.1 KCNJ2 Jules Hancox gene: KCNJ2 was added
gene: KCNJ2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870
Phenotypes for gene: KCNJ2 were set to short qt; atrial fibrillation; ventricular tacyarrhythmia
Mode of pathogenicity for gene: KCNJ2 was set to Other
Review for gene: KCNJ2 was set to GREEN
Added comment: KCNJ2 encodes Kir2.1 protein which is a key component of cardiac inward rectifier potassium current.

KCNJ2 was 3rd gene implicated in SQTS, responsible for SQTS variant 3 (SQT3)

mutations are gain of function.
Sources: Literature
Short QT syndrome v0.1 KCNH2 Jules Hancox gene: KCNH2 was added
gene: KCNH2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299
Phenotypes for gene: KCNH2 were set to short qt; atrial fibrillation; ventricular fibrillation; cardiac arrest; Brugada
Mode of pathogenicity for gene: KCNH2 was set to Other
Review for gene: KCNH2 was set to GREEN
Added comment: Different mutations have different degrees of penetrance: N588K and T618I are 100% penetrant; some others have incomplete penetrance.

The mutations are gain-of-function mutations that increase cardiac I(Kr) and abbreviate cardiac action potential duration leading to shortened QT intervals

KCNH2 aka hERG (human Ether-a-go-go-Related Gene). Gene product: hERG or Kv11.1
Sources: Literature
Short QT syndrome v0.1 KCNQ1 Jules Hancox reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15159330, 16109388, 26168993, 26346102, 25974115, 29697308; Phenotypes: short qt, atrial fibrillation, sinus bradycardia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.245 CCND2 Eleanor Williams Marked gene: CCND2 as ready
Limb disorders v0.245 CCND2 Eleanor Williams Added comment: Comment when marking as ready: Rated green based on sufficient evidence.
Limb disorders v0.245 CCND2 Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence).
Unexplained kidney failure in young people v1.19 Ellen McDonagh List of related panels changed from to Familial IgA nephropathy and IgA vasculitis
Limb disorders v0.245 CD96 Eleanor Williams commented on gene: CD96
Unexplained kidney failure in young people v1.18 COL4A4 Ellen McDonagh Publications for gene: COL4A4 were set to 25381091
Unexplained kidney failure in young people v1.17 COL4A4 Ellen McDonagh Publications for gene: COL4A4 were set to
Unexplained kidney failure in young people v1.16 COL4A3 Ellen McDonagh Publications for gene: COL4A3 were set to
Limb disorders v0.245 CCND2 Eleanor Williams Publications for gene: CCND2 were set to
Limb disorders v0.244 CCND2 Eleanor Williams Phenotypes for gene: CCND2 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Limb disorders v0.243 CCND2 Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.243 CCND2 Eleanor Williams Classified gene: CCND2 as Green List (high evidence)
Limb disorders v0.243 CCND2 Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases/families with plausible disease causing variants in this gene.
Limb disorders v0.243 CCND2 Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence).
Limb disorders v0.242 CCND2 Eleanor Williams commented on gene: CCND2
Limb disorders v0.242 BTRC Eleanor Williams Marked gene: BTRC as ready
Limb disorders v0.242 BTRC Eleanor Williams Added comment: Comment when marking as ready: Review of literature in October 2018 - no new publications. So keeping rating as Amber.
Limb disorders v0.242 BTRC Eleanor Williams Gene: btrc has been classified as Amber List (Moderate Evidence).
Limb disorders v0.242 BMP4 Eleanor Williams Marked gene: BMP4 as ready
Limb disorders v0.242 BMP4 Eleanor Williams Added comment: Comment when marking as ready: rated green as 3 cases reported
Limb disorders v0.242 BMP4 Eleanor Williams Gene: bmp4 has been classified as Green List (High Evidence).
Limb disorders v0.242 BMP4 Eleanor Williams Phenotypes for gene: BMP4 were changed from Polydactyly to Polydactyly; Microphthalmia, syndromic 6 607932
Limb disorders v0.242 BMP4 Eleanor Williams Publications for gene: BMP4 were set to
Limb disorders v0.242 BMP4 Eleanor Williams Mode of inheritance for gene: BMP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.242 BMP4 Eleanor Williams Classified gene: BMP4 as Green List (high evidence)
Limb disorders v0.242 BMP4 Eleanor Williams Added comment: Comment on list classification: 3 cases with plausible disease causing variants in the gene have been reported.
Limb disorders v0.242 BMP4 Eleanor Williams Gene: bmp4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 TRIM8 Konstantinos Varvagiannis reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 TRIM8 Konstantinos Varvagiannis gene: TRIM8 was added
gene: TRIM8 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111
Phenotypes for gene: TRIM8 were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: TRIM8 were set to Complete
Review for gene: TRIM8 was set to GREEN
Added comment: PMID: 30244534 is a collaborative study reporting on the phenotype of TRIM8-related epileptic encephalopathy and summarizing the findings in previously published patients. Developmental delay, intellectual disability, seizures are common findings in the 6 unrelated individuals reported. Proteinuria was observed in 3 subjects.

Seizures were universal feature with highly variable age of onset (2 months to 3 years and 5 months).

Several individuals were investigated for developmental delay prior to seizure onset (eg. pat.1 had an MRI at 10 months, sat at 16 months, walked at 22 months and developed seizures at 2 years, pat.3 sat at 12 months, walked at 22 and developed seizures at 3 years and 5 months, pat. 4 and 5 had significant/severe delay prior to the age of 21 months when they started having seizures).

All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely.

A previously reported patient (from PMID: 27346735) as well as an individual reported by the Epi4K consortium (PMID: 23934111 - among the co-authors of the present study) are included in the table of this article.

As a result this gene can be considered for inclusion in the intellectual disability and epilepsy panels as green.
Sources: Expert Review, Literature
Limb disorders v0.241 BMP4 Eleanor Williams commented on gene: BMP4
Early onset or syndromic epilepsy v0.505 VARS Konstantinos Varvagiannis gene: VARS was added
gene: VARS was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to 26539891; 29691655; 30275004
Phenotypes for gene: VARS were set to # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA
Penetrance for gene: VARS were set to Complete
Review for gene: VARS was set to GREEN
Added comment: PMID: 26539891 is the first report on individuals with biallelic pathogenic variants in VARS. 3 individuals from 2 consanguineous families are briefly reported. The phenotype was similar in all 3, consisting of severe developmental delay, microcephaly, seizures and cortical atrophy. Subjects from the first family were homozygous for a missense variant in the tRNA synthetase catalytic domain [p.(L885F)]. The patient from the second family was homozygous for a missense SNV affecting the anticodon-binding domain [p.(R1058Q)].

PMID: 29691655 reports on a further patient born to non-consanguineous parents, with 2 in-trans pathogenic variants in VARS. The phenotype consisted of progressive microcephaly (OFC at birth -2SD, at the age of 2 months -4SD), global developmental delay, seizures and progressive cerebral and cerebellar atrophy. An affected brother presented with more severe phenotype (OFC -6SD at birth and -8SD at 2 months of age), seizures, hearing loss but was deceased and unavailable for genetic testing. cDNA studies demonstrated absence of the reference allele for the missense mutation downstream the splice variant (in line with a reduced or absent mRNA allele harboring the splice variant). Similarly, mRNA expression studies demonstrated 50-60% reduction in the transcripts (due to NMD of the allele with the splice SNV). Western blot showed severe reduction in protein levels (more pronounced compared to what would be expected by mRNA expression) presumably secondary to decreased protein stability due to the missense variant. Severe defects in aminoacylation were further confirmatory of a pathogenic role of these variants. The missense variant was affecting the anticodon-binding domain, important for aminoacylation.

PMID: 30275004 reports on 2 siblings with developmental delay, intellectual disability, severe speech impairment and microcephaly, similar to what has been described for the disorder. Clinical findings were somewhat different from previous studies in that microcephaly was acquired, while seizures and cortical atrophy were not part of the phenotype. Both sibs were compound heterozygous for 2 missense variants, though only one of these mutations affected the anticodon binding domain and the other was in the N-terminal region of the protein. Previous metabolic studies and extensive genetic testing (karyotype, CMA, MECP2, FMR1) was normal.

Epilepsy was a feature in 4 of the 6 individuals for whom genetic testing was possible (or 5/7 in total).

VARS belongs to the family of amino acyl-tRNA synthetases (ARSs). Mutations in several cytoplasmic ARSs are associated with severe neurological manifestations including seizures, intellectual disability associated with microcephaly.

VARS is included in gene panels for intellectual disability (but not for epilepsy) offered by different diagnostic labs.

As a result this gene can be considered for inclusion in the ID and epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.510 VARS Konstantinos Varvagiannis gene: VARS was added
gene: VARS was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to 26539891; 29691655; 30275004
Phenotypes for gene: VARS were set to # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA
Penetrance for gene: VARS were set to Complete
Review for gene: VARS was set to GREEN
gene: VARS was marked as current diagnostic
Added comment: PMID: 26539891 is the first report on individuals with biallelic pathogenic variants in VARS. 3 individuals from 2 consanguineous families are briefly reported. The phenotype was similar in all 3, consisting of severe developmental delay, microcephaly, seizures and cortical atrophy. Subjects from the first family were homozygous for a missense variant in the tRNA synthetase catalytic domain [p.(L885F)]. The patient from the second family was homozygous for a missense SNV affecting the anticodon-binding domain [p.(R1058Q)].

PMID: 29691655 reports on a further patient born to non-consanguineous parents, with 2 in-trans pathogenic variants in VARS. The phenotype consisted of progressive microcephaly (OFC at birth -2SD, at the age of 2 months -4SD), global developmental delay, seizures and progressive cerebral and cerebellar atrophy. An affected brother presented with more severe phenotype (OFC -6SD at birth and -8SD at 2 months of age), seizures, hearing loss but was deceased and unavailable for genetic testing. cDNA studies demonstrated absence of the reference allele for the missense mutation downstream the splice variant (in line with a reduced or absent mRNA allele harboring the splice variant). Similarly, mRNA expression studies demonstrated 50-60% reduction in the transcripts (due to NMD of the allele with the splice SNV). Western blot showed severe reduction in protein levels (more pronounced compared to what would be expected by mRNA expression) presumably secondary to decreased protein stability due to the missense variant. Severe defects in aminoacylation were further confirmatory of a pathogenic role of these variants. The missense variant was affecting the anticodon-binding domain, important for aminoacylation.

PMID: 30275004 reports on 2 siblings with developmental delay, intellectual disability, severe speech impairment and microcephaly, similar to what has been described for the disorder. Clinical findings were somewhat different from previous studies in that microcephaly was acquired, while seizures and cortical atrophy were not part of the phenotype. Both sibs were compound heterozygous for 2 missense variants, though only one of these mutations affected the anticodon binding domain and the other was in the N-terminal region of the protein. Previous metabolic studies and extensive genetic testing (karyotype, CMA, MECP2, FMR1) was normal.

Epilepsy was a feature in 4 of the 6 individuals for whom genetic testing was possible (or 5/7 in total).

VARS belongs to the family of amino acyl-tRNA synthetases (ARSs). Mutations in several cytoplasmic ARSs are associated with severe neurological manifestations including seizures, intellectual disability associated with microcephaly.

VARS is included in gene panels for intellectual disability (but not for epilepsy) offered by different diagnostic labs.

As a result this gene can be considered for inclusion in the ID and epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Checking with Genomics England Clinical team as to whether the phenotype observed associated with this gene is appropriate for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team as to whether the phenotype observed associated with this gene is appropriate for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Eleanor Williams commented on gene: MYCN: Checking with Genomics England Clinical team as to whether the anorectal phenotype observed associated with this gene is frequent enough to include this gene in this panel, and whether other types of atresia should be considered for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 CASK Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MED12 Charles Shaw-Smith reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Charles Shaw-Smith reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 SALL1 Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BIALLELIC, autosomal or pseudoautosomal; Mode of inheritance:
Early onset or syndromic epilepsy v0.505 KARS Konstantinos Varvagiannis gene: KARS was added
gene: KARS was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 29615062; 30252186; 28496994
Phenotypes for gene: KARS were set to Global developmental delay; Intellectual disability; Seizures; Charcot-Marie-Tooth disease, recessive intermediate, B - 613641; Deafness, autosomal recessive 89 - 613916
Penetrance for gene: KARS were set to Complete
Review for gene: KARS was set to GREEN
Added comment: Several individuals with biallelic pathogenic variants in KARS have been reported (summarized in PMIDs : 29615062, 30252186, 28496994).

Developmental delay and/or intellectual disability are among the (most) frequent features, although not universal.

Seizures are part of the phenotype (15-30% of the individuals) according to the tables provided in these 3 publications.

As a result it can be considered for inclusion in the epilepsy panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.510 KARS Konstantinos Varvagiannis reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29615062, 30252186, 28496994; Phenotypes: Global developmental delay, Intellectual disability, Seizures, Charcot-Marie-Tooth disease, recessive intermediate, B - 613641, Deafness, autosomal recessive 89 - 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 29255182, 16541367; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 PIGW Konstantinos Varvagiannis reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 30078644; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v0.505 PIGW Konstantinos Varvagiannis reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 30078644; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger commented on gene: SUFU: Added 'watchlist' tag.
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger Tag watchlist tag was added to gene: SUFU.
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger commented on gene: SUFU
Holoprosencephaly v1.4 Ellen McDonagh List of related panels changed from Rhombencephalosynapsis;Holoprosencephaly - NOT chromosomal to Rhombencephalosynapsis
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger Phenotypes for gene: SUFU were changed from Joubert Syndrome 32, MIM#617757 to Joubert syndrome 32, 617757
Rare multisystem ciliopathy disorders v1.66 TXNDC15 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by PMID:27894351.
Rare multisystem ciliopathy disorders v1.66 TXNDC15 Rebecca Foulger Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Marked gene: GATAD2B as ready
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Added comment: Comment when marking as ready: Seizures do not appear to be a feature associated with variants in this gene.
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Gene: gatad2b has been classified as Red List (Low Evidence).
Rare multisystem ciliopathy disorders v1.65 TXNDC15 Rebecca Foulger commented on gene: TXNDC15
Early onset or syndromic epilepsy v0.505 CBL Sarah Leigh commented on gene: CBL
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Marked gene: ST3GAL5 as ready
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 4 unrelated cases.
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Gene: st3gal5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Marked gene: PRICKLE1 as ready
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.65 TXNDC15 Rebecca Foulger Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber to Meckel-Gruber syndrome; MGS
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Marked gene: NHLRC1 as ready
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Gene: nhlrc1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.241 BBS1 Eleanor Williams Marked gene: BBS1 as ready
Limb disorders v0.241 BBS1 Eleanor Williams Added comment: Comment when marking as ready: Marked as read after reviewing available evidence
Limb disorders v0.241 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Limb disorders v0.241 BBS1 Eleanor Williams commented on gene: BBS1: Note: is green on the Rare multisystem ciliopathy disorders panel.
Limb disorders v0.241 B9D2 Eleanor Williams Marked gene: B9D2 as ready
Limb disorders v0.241 B9D2 Eleanor Williams Added comment: Comment when marking as ready: Marked as ready after reviewing the available evidence
Limb disorders v0.241 B9D2 Eleanor Williams Gene: b9d2 has been classified as Red List (Low Evidence).
Limb disorders v0.241 B9D1 Eleanor Williams Marked gene: B9D1 as ready
Limb disorders v0.241 B9D1 Eleanor Williams Added comment: Comment when marking as ready: Marked as ready after reviewing evidence
Limb disorders v0.241 B9D1 Eleanor Williams Gene: b9d1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Marked gene: MOCS2 as ready
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.64 TCTEX1D2 Rebecca Foulger Classified gene: TCTEX1D2 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.64 TCTEX1D2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. 2 Green reviews plus sufficient unrelated cases of ciliogenesis phenotypes (PMIDs:26044572, 28475963). Role in ciliogenesis supported by functional assays and zebrafish model (PMID:26044572).
Rare multisystem ciliopathy disorders v1.64 TCTEX1D2 Rebecca Foulger Gene: tctex1d2 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: Zebrafish ciliopathy model demonstrated in PMID:26044572 and functional evidence that loss of TCTEX1D2 impairs retrograde intraflagellar transport in humans.
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: PMID:26044572 (Schmidts et al 2015) performed whole exome sequencing of 69 individuals from 60 families clinically diagnosed with JATD, and identified a homozygous consensus splice variant (c.113+2C>G) in TCTEX1D2 from a consanguineous Turkish family plus a >10-kb homozygous deletion in two affected siblings (UCL4 II.6 and II.8) from a consanguineous Arabic family that removes exon 1–2 of TCTEX1D2. Additional analysis of further JATD/SRPS cases found a compound heterozygous TCTEX1D2 variant in a non-consanguineous French family comprisimng a nonsense (c.262C>T; p.Arg88*) and a deletion-insertion frameshift (c.100delinsCT; p.Val34Leufs*12).
Limb disorders v0.241 ARMC8 Eleanor Williams Marked gene: ARMC8 as ready
Limb disorders v0.241 ARMC8 Eleanor Williams Added comment: Comment when marking as ready: Rated based on search of literature and OMIM
Limb disorders v0.241 ARMC8 Eleanor Williams Gene: armc8 has been classified as Red List (Low Evidence).
Limb disorders v0.241 ARL6 Eleanor Williams Marked gene: ARL6 as ready
Limb disorders v0.241 ARL6 Eleanor Williams Added comment: Comment when marking as ready: Sufficient evidence to rate green.
Limb disorders v0.241 ARL6 Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Marked gene: MOCS1 as ready
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.241 ARL6 Eleanor Williams commented on gene: ARL6: Note: also green on Rare multisystem ciliopathy disorders panel
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: Zschocke et al 2017 (PMID:28475963) identified two siblings from a consanguineous Turkish family with defects suggestive of ciliary dysfunction (the girl who died in utero likely had Jeune syndrome). Exome sequencing identified a homozygous intragenic deletion in TCTEX1D2. Ciliary function tests showed mild irregulatories of motile cilia.
Limb disorders v0.241 ALX3 Eleanor Williams Marked gene: ALX3 as ready
Limb disorders v0.241 ALX3 Eleanor Williams Added comment: Comment when marking as ready: Rated red after review of literature.
Limb disorders v0.241 ALX3 Eleanor Williams Gene: alx3 has been classified as Red List (Low Evidence).
Limb disorders v0.241 ALMS1 Eleanor Williams Marked gene: ALMS1 as ready
Limb disorders v0.241 ALMS1 Eleanor Williams Added comment: Comment when marking as ready: Rated red after review of literature
Limb disorders v0.241 ALMS1 Eleanor Williams Gene: alms1 has been classified as Red List (Low Evidence).
Limb disorders v0.241 ALMS1 Eleanor Williams Publications for gene: ALMS1 were set to
Limb disorders v0.240 AKT3 Eleanor Williams Marked gene: AKT3 as ready
Limb disorders v0.240 AKT3 Eleanor Williams Added comment: Comment when marking as ready: Rated red based on feedback from Genomics England Clinical Team
Limb disorders v0.240 AKT3 Eleanor Williams Gene: akt3 has been classified as Red List (Low Evidence).
Limb disorders v0.240 AKT3 Eleanor Williams Phenotypes for gene: AKT3 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Limb disorders v0.239 AKT3 Eleanor Williams Publications for gene: AKT3 were set to
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger Phenotypes for gene: TCTEX1D2 were changed from Jeune ATD to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy; JATD
Limb disorders v0.238 AHI1 Eleanor Williams Marked gene: AHI1 as ready
Limb disorders v0.238 AHI1 Eleanor Williams Added comment: Comment when marking as ready: Rated as red based on feedback from Genomics England Clinical team
Limb disorders v0.238 AHI1 Eleanor Williams Gene: ahi1 has been classified as Red List (Low Evidence).
Rare multisystem ciliopathy disorders v1.62 TCTEX1D2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM.
Rare multisystem ciliopathy disorders v1.62 TCTEX1D2 Rebecca Foulger Mode of inheritance for gene: TCTEX1D2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.238 AHI1 Eleanor Williams Phenotypes for gene: AHI1 were changed from Polydactyly to Polydactyly; Joubert syndrome 3 608629
Limb disorders v0.237 AHI1 Eleanor Williams Publications for gene: AHI1 were set to
Rare multisystem ciliopathy disorders v1.61 TCTEX1D2 Rebecca Foulger Publications for gene: TCTEX1D2 were set to 26044572
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: Added 'watchlist' tag.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Tag watchlist tag was added to gene: EXOC3L2.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Classified gene: EXOC3L2 as Red List (low evidence)
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red: Currently only a candidate ciliopathy gene (PMID:27894351). Further cases and functional evidence required for inclusion on panel.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Gene: exoc3l2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Marked gene: DCX as ready
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 14 variants reported.
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Gene: dcx has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.59 EXOC3L2 Rebecca Foulger Phenotypes for gene: EXOC3L2 were changed from to anhydramnios; echogenic kidneys; hydrocephalus; Dandy-Walker malformation; enlarged echogenic kidneys
Rare multisystem ciliopathy disorders v1.58 EXOC3L2 Rebecca Foulger Added comment: Comment on publications: Note that the Reviewer's 7894351 publication suggestion is a typo and should be 27894351.
Rare multisystem ciliopathy disorders v1.58 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 28749478; 27894351
Rare multisystem ciliopathy disorders v1.57 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 28749478, 27894351
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Classified gene: C21orf2 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Two Green expert reviews, plus recent literature evidence for biallelic C21orf2 variants involved in Jeune syndrome (PMID:26167768).
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Gene: c21orf2 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.55 C21orf2 Rebecca Foulger Phenotypes for gene: C21orf2 were changed from Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome to Jeune asphyxiating thoracic dystrophy (JATD); Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome
Rare multisystem ciliopathy disorders v1.54 C21orf2 Rebecca Foulger Phenotypes for gene: C21orf2 were changed from Spondylometaphyseal dysplasia, axial, MIM#602271 to Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome
Rare multisystem ciliopathy disorders v1.53 C21orf2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and DD-G2P.
Rare multisystem ciliopathy disorders v1.53 C21orf2 Rebecca Foulger Mode of inheritance for gene: C21orf2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.52 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899; 26974433; 26167768; 23105016
Rare multisystem ciliopathy disorders v1.52 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899; 26974433; 26167768
Rare multisystem ciliopathy disorders v1.51 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899, 26974433, 26167768
Rare multisystem ciliopathy disorders v1.50 C21orf2 Rebecca Foulger commented on gene: C21orf2
Rare multisystem ciliopathy disorders v1.50 C21orf2 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf2.
Limb disorders v0.236 SMO Rebecca Foulger Classified gene: SMO as Green List (high evidence)
Limb disorders v0.236 SMO Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: sufficient unrelated cases of syndactyly and/or preaxial polydactyly in Curry-Jones patients for inclusion on panel.
Limb disorders v0.236 SMO Rebecca Foulger Gene: smo has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 CSTB Sarah Leigh Mode of inheritance for gene: CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.235 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Somatic mosaic.
Limb disorders v0.235 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from to Other
Limb disorders v0.234 SMO Rebecca Foulger commented on gene: SMO: Added 'somatic' tag.
Limb disorders v0.234 SMO Rebecca Foulger Tag somatic tag was added to gene: SMO.
Limb disorders v0.234 TFAP2B Rebecca Foulger Marked gene: TFAP2B as ready
Limb disorders v0.234 TFAP2B Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence).
Limb disorders v0.234 TFAP2B Rebecca Foulger Classified gene: TFAP2B as Green List (high evidence)
Limb disorders v0.234 TFAP2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Char syndrome, which includes hand anomalies. Although not all patients display a hand phenotype, there's sufficient cases for inclusion on the limb panel.
Limb disorders v0.234 TFAP2B Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.504 ADAT3 Konstantinos Varvagiannis gene: ADAT3 was added
gene: ADAT3 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 23620220; 26842963; 30296593; 29796286
Phenotypes for gene: ADAT3 were set to # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
Penetrance for gene: ADAT3 were set to Complete
Review for gene: ADAT3 was set to GREEN
Added comment: Initially reported in PMID 23620220, the findings in several individuals with biallelic ADAT3 pathogenic variants (including also those from the first report) are summarized in PMID 26842963.

A total of 39 individuals from 19 consanguineous families are described in the two studies. These individuals were homozygous for a specific missense variant (probably a Saudi Arabian founder mutation).

The common phenotype consists of intellectual disability (39/39 patients) and strabismus (32/39). Additional features included failure to thrive (33/39), microcephaly (22/39), short stature (11 of 15 individuals for whom this was information was available).

Epilepsy was observed in some of these individuals (6/39).

A few facial features were more common, although there was no distinct facial gestalt. //

PMID 30296593 reports on 2 additional subjects born to consanguineous parents and found to be homozygous for the same missense variant. These individuals presented with features similar to the previous reports (although none of them was reported to have seizures). //

Of note, the variant is either referred to as V144M (using NM_138422.2 or NM_138422.3) or as V128M (using NM_138422.1 as a reference / c.382G>A) as in the initial report. [ClinVar : https://www.ncbi.nlm.nih.gov/clinvar/variation/183301/#summary-evidence]

PMID 29796286 describes a 6-year-old female, born to consanguineous Iranian parents, investigated for developmental delay,intellectual disability, behavioral difficulties as well as microcephaly. A homozygous 8-basepair duplication in ADAT3 was identified by exome and was further confirmed by Sanger sequencing. This individual did not have seizures. //

This gene is included in DD/ID (but not epilepsy) panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in the epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.510 ADAT3 Konstantinos Varvagiannis gene: ADAT3 was added
gene: ADAT3 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 23620220; 26842963; 30296593; 29796286
Phenotypes for gene: ADAT3 were set to # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
Penetrance for gene: ADAT3 were set to Complete
Review for gene: ADAT3 was set to GREEN
gene: ADAT3 was marked as current diagnostic
Added comment: Initially reported in PMID 23620220, the findings in several individuals with biallelic ADAT3 pathogenic variants (including also those from the first report) are summarized in PMID 26842963.

A total of 39 individuals from 19 consanguineous families are described in the two studies. These individuals were homozygous for a specific missense variant (probably a Saudi Arabian founder mutation).

The common phenotype consists of intellectual disability (39/39 patients) and strabismus (32/39). Additional features included failure to thrive (33/39), microcephaly (22/39), short stature (11 of 15 individuals for whom this was information was available).

Epilepsy was observed in some of these individuals (6/39).

A few facial features were more common, although there was no distinct facial gestalt. //

PMID 30296593 reports on 2 additional subjects born to consanguineous parents and found to be homozygous for the same missense variant. These individuals presented with features similar to the previous reports (although none of them was reported to have seizures). //

Of note, the variant is either referred to as V144M (using NM_138422.2 or NM_138422.3) or as V128M (using NM_138422.1 as a reference / c.382G>A) as in the initial report. [ClinVar : https://www.ncbi.nlm.nih.gov/clinvar/variation/183301/#summary-evidence]

PMID 29796286 describes a 6-year-old female, born to consanguineous Iranian parents, investigated for developmental delay,intellectual disability, behavioral difficulties as well as microcephaly. A homozygous 8-basepair duplication in ADAT3 was identified by exome and was further confirmed by Sanger sequencing. This individual did not have seizures. //

This gene is included in DD/ID (but not epilepsy) panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in the intellectual disability panel as green.
Sources: Expert Review, Literature
Limb disorders v0.233 TFAP2B Rebecca Foulger commented on gene: TFAP2B: Confirmed DD-G2P gene for Char syndrome (MIM:169100). Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies including aplasia or hypoplasia of the middle phalanges of the fifth fingers or fifth finger clinodactyly. However, hand anomalies are not reported in all patients. Variants in TFAP2B can also cause PDA without facial dysmorphism or hand anomalies (MIM:617035).
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Classified gene: CDX1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Added comment: Comment on list classification: More than 3 cases reported of CDX1 variants in patients with anorectal malformations. Also supporting functional studies.
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Gene: cdx1 has been classified as Green List (High Evidence).
Limb disorders v0.233 TFAP2B Rebecca Foulger Publications for gene: TFAP2B were set to 15684060; 11505339
Limb disorders v0.232 TFAP2B Rebecca Foulger commented on gene: TFAP2B: In a large 3-generation family segregating autosomal dominant Char syndrome (CHAR; 169100), Mani et al. (2005, 15684060) identified heterozygosity for a G-to-A transition at position +5 of the splice donor site of intron 3, a highly conserved nucleotide in the TFAP2B gene. Of the 22 affected members, all had clinodactyly. Chen et al (PMID:21643846) report the same variant in a Chinese family, but none of the affected individuals in the Chinese family exhibited the craniofacial or fifth-finger anomalies of Char syndrome.
Limb disorders v0.232 TFAP2B Rebecca Foulger commented on gene: TFAP2B
Limb disorders v0.232 TFAP2B Rebecca Foulger Phenotypes for gene: TFAP2B were changed from Polydactyly to Polydactyly; Clinodactyly; Char syndrome, 169100
Limb disorders v0.231 TFAP2B Rebecca Foulger Mode of inheritance for gene: TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.230 TFAP2B Rebecca Foulger Publications for gene: TFAP2B were set to
Cerebellar hypoplasia v1.21 Ellen McDonagh List of related panels changed from Cerebellar Hypoplasia to Cerebellar Hypoplasia; Pontine tegmental cap dysplasia
Limb disorders v0.229 ZIC3 Sarah Leigh gene: ZIC3 was added
gene: ZIC3 was added to Limb disorders. Sources: Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZIC3 were set to 21465648; 20452998
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked 314390
Limb disorders v0.229 WNT7A Sarah Leigh Added phenotypes absence of a radius; Fuhrmann syndrome, 228930; Ulna and fibula, absence of, with severe limb deficiency, 276820; Short, bowed radii for gene: WNT7A
Limb disorders v0.229 UBE2T Sarah Leigh Source Expert Review Green was added to UBE2T.
Added phenotypes Fanconi Anemia, Complementation Group T, 616435 for gene: UBE2T
Limb disorders v0.229 TBX5 Sarah Leigh Mode of inheritance for gene TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holt-Oram syndrome,142900 for gene: TBX5
Publications for gene TBX5 were changed from to 8730285
Limb disorders v0.229 TBX3 Sarah Leigh Mode of inheritance for gene TBX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ulnar-mammary syndrome, 181450; Hypoplastic/absent/deformed radius for gene: TBX3
Limb disorders v0.229 SMC3 Sarah Leigh Mode of inheritance for gene SMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cornelia de Lange syndrome 3, 610759 for gene: SMC3
Publications for gene SMC3 were changed from to 25125236
Limb disorders v0.229 SMC1A Sarah Leigh Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A
Publications for gene SMC1A were changed from to 20358602
Limb disorders v0.229 SLX4 Sarah Leigh Source Expert Review Green was added to SLX4.
Mode of inheritance for gene SLX4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4
Publications for gene SLX4 were changed from to 21240277; 21240275
Limb disorders v0.229 SHOX Sarah Leigh Source Expert Review Green was added to SHOX.
Added phenotypes Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 for gene: SHOX
Limb disorders v0.229 SF3B4 Sarah Leigh Mode of inheritance for gene SF3B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
Limb disorders v0.229 SALL4 Sarah Leigh Added phenotypes Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 for gene: SALL4
Limb disorders v0.229 SALL1 Sarah Leigh Mode of inheritance for gene SALL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480 for gene: SALL1
Limb disorders v0.229 RPS7 Sarah Leigh Source Expert Review Green was added to RPS7.
Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 8, 612563; upper limb malformation for gene: RPS7
Publications for gene RPS7 were changed from to 19061985
Limb disorders v0.229 RPS26 Sarah Leigh Source Expert Review Green was added to RPS26.
Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 10, 613309; upper limb malformation for gene: RPS26
Publications for gene RPS26 were changed from to 20116044
Limb disorders v0.229 RPS24 Sarah Leigh Source Expert Review Green was added to RPS24.
Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 3, 610629; upper limb malformation for gene: RPS24
Publications for gene RPS24 were changed from to 17186470; 2210388; 8647458; 19689926; 19773262
Limb disorders v0.229 RPS19 Sarah Leigh Source Expert Review Green was added to RPS19.
Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 1, 105650; Triphalangeal thumbs; Hypoplastic thumbs; Mild radial hypoplasia; Absent thumbs for gene: RPS19
Publications for gene RPS19 were changed from to 15384984; 9988267; 1746615
Limb disorders v0.229 RPS17 Sarah Leigh Source Expert Review Green was added to RPS17.
Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
Publications for gene RPS17 were changed from to 17647292; 19953637; 22045982; 19061985
Limb disorders v0.229 RPS10 Sarah Leigh Source Expert Review Green was added to RPS10.
Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 9, 613308; upper limb malformation for gene: RPS10
Publications for gene RPS10 were changed from to 20116044
Limb disorders v0.229 RPL5 Sarah Leigh Source Expert Review Green was added to RPL5.
Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 6, 612561; thumb abnormalities for gene: RPL5
Publications for gene RPL5 were changed from to 19191325; 19061985
Limb disorders v0.229 RPL35A Sarah Leigh Source Expert Review Green was added to RPL35A.
Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 5, 612528; upper limb malformation for gene: RPL35A
Publications for gene RPL35A were changed from to 18535205
Limb disorders v0.229 RPL11 Sarah Leigh Source Expert Review Green was added to RPL11.
Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 7, 612562; hypoplastic thumb; thumb abnormalities for gene: RPL11
Publications for gene RPL11 were changed from to 19191325; 19061985
Limb disorders v0.229 RECQL4 Sarah Leigh Added phenotypes Rothmund-Thomson syndrome, 268400; RAPILINO syndrome, 266280; Baller-Gerold syndrome, 218600 for gene: RECQL4
Limb disorders v0.229 RBM8A Sarah Leigh Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Publications for gene RBM8A were changed from to 22366785
Limb disorders v0.229 PALB2 Sarah Leigh Source Expert Review Green was added to PALB2.
Mode of inheritance for gene PALB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2
Publications for gene PALB2 were changed from to 17200671; 17200672
Limb disorders v0.229 NIPBL Sarah Leigh Mode of inheritance for gene NIPBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes CDLS1; Cornelia de Lange syndrome 1, 122470; Dislocation of the radial head; upper limb anomalies for gene: NIPBL
Limb disorders v0.229 LMBR1 Sarah Leigh Mode of inheritance for gene LMBR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Triphalangeal Thumb-Polysyndactyly Syndrome; Laurin-Sandrow syndrome,135750; Triphalangeal thumb type I,174500 for gene: LMBR1
Limb disorders v0.229 KCNH1 Sarah Leigh Source Expert Review Green was added to KCNH1.
Added phenotypes Hypoplasia of terminal phalanges; Temple-Baraitser syndrome, 611816 for gene: KCNH1
Limb disorders v0.229 HOXA13 Sarah Leigh Added phenotypes Hand-foot-uterus syndrome, 140000 for gene: HOXA13
Publications for gene HOXA13 were changed from to 10839976; 9020844
Limb disorders v0.229 HDAC8 Sarah Leigh Source Expert Review Green was added to HDAC8.
Added phenotypes Cornelia de Lange syndrome 5, 300882 for gene: HDAC8
Limb disorders v0.229 FLNA Sarah Leigh Added phenotypes Melnick-Needles syndrome, 309350 for gene: FLNA
Publications for gene FLNA were changed from to 12612583
Limb disorders v0.229 FIG4 Sarah Leigh Source Expert Review Green was added to FIG4.
Added phenotypes Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs for gene: FIG4
Publications for gene FIG4 were changed from to 23623387
Limb disorders v0.229 FGFR3 Sarah Leigh Mode of inheritance for gene FGFR3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR3
Limb disorders v0.229 FGFR2 Sarah Leigh Mode of inheritance for gene FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR2
Limb disorders v0.229 FGF10 Sarah Leigh Mode of inheritance for gene FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGF10
Limb disorders v0.229 FANCL Sarah Leigh Source Expert Review Green was added to FANCL.
Mode of inheritance for gene FANCL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group L, 614083 for gene: FANCL
Publications for gene FANCL were changed from to 25754594; 12973351; 19405097; 12724401
Limb disorders v0.229 FANCI Sarah Leigh Source Expert Review Green was added to FANCI.
Mode of inheritance for gene FANCI was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group I, 609053 for gene: FANCI
Publications for gene FANCI were changed from to 11239453; 17452773
Limb disorders v0.229 FANCG Sarah Leigh Source Expert Review Green was added to FANCG.
Mode of inheritance for gene FANCG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group G, 614082 for gene: FANCG
Publications for gene FANCG were changed from to 9806548
Limb disorders v0.229 FANCF Sarah Leigh Source Expert Review Green was added to FANCF.
Mode of inheritance for gene FANCF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group F, 603467 for gene: FANCF
Publications for gene FANCF were changed from to 10615118
Limb disorders v0.229 FANCE Sarah Leigh Source Expert Review Green was added to FANCE.
Mode of inheritance for gene FANCE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE
Publications for gene FANCE were changed from to 9147877; 10205272; 7662964; 9382107
Limb disorders v0.229 FANCD2 Sarah Leigh Source Expert Review Green was added to FANCD2.
Mode of inheritance for gene FANCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group D2, 227646 for gene: FANCD2
Publications for gene FANCD2 were changed from to 11239454
Limb disorders v0.229 FANCC Sarah Leigh Source Expert Review Green was added to FANCC.
Mode of inheritance for gene FANCC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group C, 227645 for gene: FANCC
Publications for gene FANCC were changed from to 1574115
Limb disorders v0.229 FANCB Sarah Leigh Source Expert Review Green was added to FANCB.
Mode of inheritance for gene FANCB 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)
Added phenotypes Fanconi anemia, complementation group B, 300514; VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; Fanconi Anemia, Complementation Group B; VACTERL-Hydrocephalus Syndrome; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB
Publications for gene FANCB were changed from to 15502827
Limb disorders v0.229 FANCA Sarah Leigh Source Expert Review Green was added to FANCA.
Mode of inheritance for gene FANCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group A, 227650 for gene: FANCA
Publications for gene FANCA were changed from to 8896563
Limb disorders v0.229 ESCO2 Sarah Leigh Source Expert Review Green was added to ESCO2.
Added phenotypes absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia for gene: ESCO2
Limb disorders v0.229 ERCC4 Sarah Leigh Source Expert Review Green was added to ERCC4.
Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4
Publications for gene ERCC4 were changed from to 23623389; 23623386; 24027083
Limb disorders v0.229 BRIP1 Sarah Leigh Source Expert Review Green was added to BRIP1.
Mode of inheritance for gene BRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1
Publications for gene BRIP1 were changed from to 16153896; 16116424; 14630800; 16116423
Limb disorders v0.229 BRCA2 Sarah Leigh Source Expert Review Green was added to BRCA2.
Mode of inheritance for gene BRCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2
Publications for gene BRCA2 were changed from to 11239453; 12065746; 14670928; 28185119
Limb disorders v0.228 UBE2T Sarah Leigh gene: UBE2T was added
gene: UBE2T was added to Limb disorders. Sources: Other
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368; 26119737; 26085575
Phenotypes for gene: UBE2T were set to Fanconi Anemia, Complementation Group T, 616435
Limb disorders v0.228 SHOX Sarah Leigh gene: SHOX was added
gene: SHOX was added to Limb disorders. Sources: Other
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700; radioulnar shortening; bowing of the radius; Leri-Weill dyschondrosteosis, 127300
Limb disorders v0.228 KCNH1 Sarah Leigh gene: KCNH1 was added
gene: KCNH1 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNH1 were set to 25420144
Phenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, 611816
Limb disorders v0.228 HDAC8 Sarah Leigh gene: HDAC8 was added
gene: HDAC8 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, 300882
Limb disorders v0.228 FIG4 Sarah Leigh gene: FIG4 was added
gene: FIG4 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340
Limb disorders v0.228 ESCO2 Sarah Leigh gene: ESCO2 was added
gene: ESCO2 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.504 KCNK4 Sarah Leigh Classified gene: KCNK4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.504 KCNK4 Sarah Leigh Gene: kcnk4 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.101 RECQL4 Eleanor Williams Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome 218600
Non-syndromic familial congenital anorectal malformations v0.100 RECQL4 Eleanor Williams Publications for gene: RECQL4 were set to
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Classified gene: RECQL4 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Added comment: Comment on list classification: Rating as Amber as only 2 reported cases of variants in RECQL4 in patients with Baller-Gerold syndrome showing anorectal malformation phenotypes.
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Gene: recql4 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.98 RECQL4 Eleanor Williams commented on gene: RECQL4: RECQL4 is associated with Baller-Gerold syndrome in OMIM and Gene2Phenotype (confirmed). It is also associated with RAPADILINO syndrome and Rothmund-Thomson syndrome. Imperforate anus/Anteriorly placed anus are a feature of Baller-Gerold syndrome.

Van Maldergem et al. (2006)(PMID: 15964893) report the analysis of 2 unrelated cases of Baller-Gerold syndrome. Patient 1 in family 1 was compound heterozygous for variants in this gene. In family 2 the patient was homozygous for a splice site mutation. 3 offspring from family 1 showed anus anteposition. No anorectal abnormalities are reported for the child in family 2.

Debeljak et al (2009)(PMID: 19291770) report a case of a child with Baller-Gerold syndrome with features including imperforate anus. The patient had two different truncating mutations in exon 15 of RECQL4.

Kaneko et al (2017)(PMID: 28358413) report a family with 2 brothers with Baller-Gerold syndrome, one with imperforate anus, however the RECQL4 gene was not sequenced.
Limb disorders v0.227 TFAP2A Rebecca Foulger Marked gene: TFAP2A as ready
Limb disorders v0.227 TFAP2A Rebecca Foulger Added comment: Comment when marking as ready: Amber rating while awaiting further dactyly cases.
Limb disorders v0.227 TFAP2A Rebecca Foulger Gene: tfap2a has been classified as Amber List (Moderate Evidence).
Limb disorders v0.227 TFAP2A Rebecca Foulger commented on gene: TFAP2A: Added 'watchlist' tag while awaiting further cases.
Limb disorders v0.227 TFAP2A Rebecca Foulger Tag watchlist tag was added to gene: TFAP2A.
Limb disorders v0.227 TFAP2A Rebecca Foulger Classified gene: TFAP2A as Amber List (moderate evidence)
Limb disorders v0.227 TFAP2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber: Confirmed DD-G2P gene for Branchiooculofacial syndrome (MIM:113620) which can present with Polydactyly and Clinodactyly. Currently insufficient cases of dactyly phenotypes for diagnostic rating (PMIDs:20358615, 19685247).
Limb disorders v0.227 TFAP2A Rebecca Foulger Gene: tfap2a has been classified as Amber List (Moderate Evidence).
Limb disorders v0.226 TFAP2A Rebecca Foulger commented on gene: TFAP2A: Added 'deletions' tag based on Syndactyly patients in PMID:19685247 with whole gene deletions.
Limb disorders v0.226 TFAP2A Rebecca Foulger Tag deletions tag was added to gene: TFAP2A.
Limb disorders v0.226 TFAP2A Rebecca Foulger commented on gene: TFAP2A: Gestri et al 2009 (PMID:19685247) analyzed the TFAP2A gene in 37 patients with developmental eye defects plus variable defects associated with BOFS. A 5 year old boy with 5th finger clinodactyly (amongst other phenotypes) had a 12bp deletion resulting in the deletion of 4 amino acids (Glu233 to Arg236) in TFAP2A. Whole gene deletion was seen in a further 3 patients which all presented with Syndactyly.
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.226 TFAP2A Rebecca Foulger commented on gene: TFAP2A: 1 BOFS patient was reported in Reiber et al 2010 (PMID:20358615) with severe Syndactyly and a c.806T>C (p.Leu269Pro) de novo missense variant in TFAP2A.
Limb disorders v0.226 TFAP2A Rebecca Foulger Publications for gene: TFAP2A were set to
Limb disorders v0.225 TFAP2A Rebecca Foulger Phenotypes for gene: TFAP2A were changed from Polydactyly to Polydactyly; Branchiooculofacial syndrome, 113620; Clinodactyly; Syndactyly
Limb disorders v0.224 TFAP2A Rebecca Foulger Added comment: Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.
Limb disorders v0.224 TFAP2A Rebecca Foulger Mode of inheritance for gene: TFAP2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.503 NBEA Konstantinos Varvagiannis gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to GREEN
Added comment: PMID: 30269351 is a collaborative study reporting on 24 individuals with pathogenic de novo variants affecting NBEA.

All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism.

Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type.

Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24.

Among the variants identified:
8/24 were stopgain SNVs
5/24 were frameshift
4/24 were missense SNVs
1/24 was a splice site SNV
5/24 concerned an intragenic NBEA deletion
1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM).

Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332).

Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA).

As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648).

Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818).

NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism.

As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. //

NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels.
Sources: Expert Review, Literature
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30269351, 28554332, 12746398, 12826745, 11450821, 3377648, 23277425, 22109531, 23153818; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis gene: NBEA was added
gene: NBEA was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: PMID: 30269351 is a collaborative study reporting in 24 individuals with pathogenic de novo variants affecting NBEA.

All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism.

Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type.

Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24.

Among the variants identified:
8/24 were stopgain SNVs
5/24 were frameshift
4/24 were missense SNVs
1/24 was a splice site SNV
5/24 concerned an intragenic NBEA deletion
1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM).

Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332).

Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA).

As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648).

Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818).

NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism.

As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. //

NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels.
Sources: Literature, Expert Review
Non-syndromic familial congenital anorectal malformations v0.98 RECQL4 Eleanor Williams gene: RECQL4 was added
gene: RECQL4 was added to Non-syndromic familial congenital anorectal malformations. Sources: Other
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Suggested for inclusion by Genomics England Clinical team due to association with Baller-Gerold syndrome
Sources: Other
Non-syndromic familial congenital anorectal malformations v0.97 MID1 Eleanor Williams Publications for gene: MID1 were set to
Non-syndromic familial congenital anorectal malformations v0.96 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I 300000
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Classified gene: MID1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Added comment: Comment on list classification: Rating as green as more than 3 cases/families with plausible disease causing variants in the MID1 gene.
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams commented on gene: MID1: MID1 is associated with Opitz GBBB syndrome, type I in OMIM and Gene2phenotype (confirmed). The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects.
Numerous cases of mutations in the MID1 genes in Opitz syndrome patients have been identified (Quaderi et al. (1997)(PMID: 9354791), Cox et al. (2000)(PMID:11030761), Pinson et al. (2004)(PMID: 15121778),  De Falco et al. (2003)(PMID:12833403), So et al. (2005)(PMID:15558842)). Although all patients with Opitz GBBB syndrome to not show anorectal malformations, at least 3 cases with anal abnormalities have been reported (in Cox et al, Pinson et al and De Falco et al, So et al).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.22 Ellen McDonagh List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID to A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams gene: MID1 was added
gene: MID1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Review for gene: MID1 was set to AMBER
Added comment: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Sources: Expert list
Non-syndromic familial congenital anorectal malformations v0.93 RFX6 Eleanor Williams Mode of inheritance for gene: RFX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.92 RFX6 Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation; Mitchell-Riley syndrome 615710 to anorectal malformation; Mitchell-Riley syndrome 615710; MARTINEZ-FRIAS SYNDROME
Non-syndromic familial congenital anorectal malformations v0.91 RFX6 Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation to anorectal malformation; Mitchell-Riley syndrome 615710
Non-syndromic familial congenital anorectal malformations v0.90 RFX6 Eleanor Williams Publications for gene: RFX6 were set to
Non-syndromic familial congenital anorectal malformations v0.89 TTC7A Eleanor Williams Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.88 TTC7A Eleanor Williams Phenotypes for gene: TTC7A were changed from anorectal malformation to anorectal malformation; Gastrointestinal defects and immunodeficiency syndrome 243150; INTESTINAL ATRESIA, MULTIPLE
Non-syndromic familial congenital anorectal malformations v0.87 TTC7A Eleanor Williams Publications for gene: TTC7A were set to
Non-syndromic familial congenital anorectal malformations v0.86 TTC7A Eleanor Williams commented on gene: TTC7A: TTC7A is associated with Gastrointestinal defects and immunodeficiency syndrome in OMIM and INTESTINAL ATRESIA, MULTIPLE (confirmed) in Gene2Phenotype. Numerous cases of patients TTC7A and gastrointestinal defects and immunodeficiency syndrome have been reported (PMID: 23423984;24292712;23830146;25174867;25174867).
Non-syndromic familial congenital anorectal malformations v0.86 RFX6 Eleanor Williams commented on gene: RFX6: RFX6 is associated with Mitchell-Riley syndrome in OMIM and MARTINEZ-FRIAS SYNDROME in Gene2Phenotype (confirmed). OMIM state that there is considerable phenotypic overlap between the two syndromes, the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients. Both syndromes include intestinal atresia as a major phenotype.

Smith et al. (2010) (PMID: 20148032) report 6 unrelated probands and Sansbury et al. (2015)(PMID:26264437) report 2 related patients (double first cousins) with plausible disease causing variants in RFX6 and Mitchell-Riley syndrome. All affected individuals show duodenal atresia. Some also show intestinal phenotypes such as jejunal atresia, intestinal malrotation, duodenal/jejunal web and Meckel's diverticulum.
Early onset or syndromic epilepsy v0.503 TRAF7 Konstantinos Varvagiannis gene: TRAF7 was added
gene: TRAF7 was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944
Phenotypes for gene: TRAF7 were set to Global developmental delay; Abnormal heart morphology; Abnormality of digit; Abnormality of limbs
Penetrance for gene: TRAF7 were set to unknown
Review for gene: TRAF7 was set to AMBER
Added comment: PMID: 29961569 reports on 7 unrelated individuals with pathogenic variants in TRAF7. Common features included developmental delay, congenital heart defects, limb and digital anomalies as well as shared facial features (including epicanthal folds, ptosis, abnormal ears, excess nuchal skin). Some of these individuals had been investigated in the past for disorders of the Ras-MAPK pathway (CFC, Noonan and Costello syndrome).

Two (or possibly three) of these patients had seizures.

The SNVs reported are missense and occured de novo in all patients for whom parental studies were possible (6 out of 7). A recurrent mutation [p.(Arg655Gln)] was found in 4 of the 7 individuals. One patient was found to harbor a mutation in the mosaic state, as a de novo occurrence.

The variants resulted in reduced activation of ERK1/2 (also known as MAPK3/MAPK1). //

7 individuals with de novo coding variants have previously been reported in large cohorts of patients with intellectual disability (PMIDs : 27479843, 28135719 - DDD study) and/or ASD (25363760, 25961944). One of the individuals from the DDD study had a stopgain variant.

The individuals from these studies are summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=TRAF7). //

As a result this gene can be considered for inclusion in the epilepsy panel as amber (seizures having been reported in few of the patients).
Sources: Literature, Expert Review
Intellectual disability v2.510 TRAF7 Konstantinos Varvagiannis gene: TRAF7 was added
gene: TRAF7 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944
Phenotypes for gene: TRAF7 were set to Global developmental delay; Abnormal heart morphology; Abnormality of digit; Abnormality of limbs
Penetrance for gene: TRAF7 were set to unknown
Review for gene: TRAF7 was set to GREEN
Added comment: PMID: 29961569 reports on 7 unrelated individuals with pathogenic variants in TRAF7. Common features included developmental delay, congenital heart defects, limb and digital anomalies as well as shared facial features (including epicanthal folds, ptosis, abnormal ears, excess nuchal skin). Two (or possibly three) of these patients had seizures. Some of these individuals had been investigated in the past for disorders of the Ras-MAPK pathway (CFC, Noonan and Costello syndrome).

The SNVs reported are missense and occured de novo in all patients for whom parental studies were possible (6 out of 7). A recurrent mutation [p.(Arg655Gln)] was found in 4 of the 7 individuals. One patient was found to harbor a mutation in the mosaic state, as a de novo occurrence.

The variants resulted in reduced activation of ERK1/2 (also known as MAPK3/MAPK1). //

7 individuals with de novo coding variants have previously been reported in large cohorts of patients with intellectual disability (PMIDs : 27479843, 28135719 - DDD study) and/or ASD (25363760, 25961944). One of the individuals from the DDD study had a stopgain variant.

The individuals from these studies are summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=TRAF7). //

As a result this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Expert Review, Literature
Limb disorders v0.223 TCTN3 Rebecca Foulger Publications for gene: TCTN3 were set to
Limb disorders v0.222 TCTN3 Rebecca Foulger Marked gene: TCTN3 as ready
Limb disorders v0.222 TCTN3 Rebecca Foulger Added comment: Comment when marking as ready: Sufficient cases (>3) of polydactyly in patients with TCTN3 homozyous/compound het variants.
Limb disorders v0.222 TCTN3 Rebecca Foulger Gene: tctn3 has been classified as Green List (High Evidence).
Limb disorders v0.222 TCTN3 Rebecca Foulger Classified gene: TCTN3 as Green List (high evidence)
Limb disorders v0.222 TCTN3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Orofaciodigital syndrome IV, 258860 (Mohr-Majewski syndrome) which can present with Polydactyly, Brachydactyly, Clinodactyly or Syndactyly. >3 polydactyly cases from multiple populations reported in consanguineous families in PMID:22883145. Multiple variants identified in this paper (homozgyous or compound heterozygous).
Limb disorders v0.222 TCTN3 Rebecca Foulger Gene: tctn3 has been classified as Green List (High Evidence).
Limb disorders v0.221 TCTN3 Rebecca Foulger commented on gene: TCTN3: Thomas et al. 2012 (PMID:22883145) identified a nonsensense variant in TCTN3 in an aborted fetus born to a consanguineous Senegal family. Amongst other features, the fetus had polydactyly of four limbs and bowing of long bones with severe tibia hypoplasia. They identified 2 additional homozygous variants in three other fetuses (from Pakistan and Tunisia), all of whom displayed polydactyly (Table 1) together with bone defects including femoral bowing and club foot. They also reported compound heterozygous variants in 2 French fetal siblings with Orofaciodigital syndrome IV, 258860 including polydactyly. Additionally they report 2 Turkish siblings with Joubert syndrome (MIM:614815) and homozygous TCTN3 variants; one was reported with polydactyly.
Limb disorders v0.221 TCTN3 Rebecca Foulger Phenotypes for gene: TCTN3 were changed from Polydactyly to Polydactyly; Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860
Limb disorders v0.220 TCTN3 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and Gene2Phenotype.
Limb disorders v0.220 TCTN3 Rebecca Foulger Mode of inheritance for gene: TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.219 TCTEX1D2 Rebecca Foulger Mode of inheritance for gene: TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.218 TCTN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and Gene2Phenotype.
Limb disorders v0.218 TCTN2 Rebecca Foulger Mode of inheritance for gene: TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.503 PIGG Konstantinos Varvagiannis gene: PIGG was added
gene: PIGG was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 26996948; 28581210
Phenotypes for gene: PIGG were set to # 616917. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53
Penetrance for gene: PIGG were set to Complete
Review for gene: PIGG was set to GREEN
Added comment: PMID: 26996948 reports on 5 individuals from 3 families, with biallelic pathogenic variants in PIGG.

Individuals from first family, were born to consanguineous parents from Egypt and were homozygous for a stopgain variant [p.(Gln310*)]. The patient from the second family had a rare missense SNV [p.(Arg669Cys)] and a de novo microdeletion affecting PIGG on her other allele. In the third family (consanguineous parents from Pakistan), two affected sibs were found to be homozygous for a splice variant.

The phenotype consisted of hypotonia, early-onset seizures and intellectual disability. Ataxia was an additional feature in one of the families.

Seizures, were observed in most of patients but do not appear to be a universal feature as they were absent in one of the sibs from the third family (10 years of age), while the other had a single episode by the age of 12 years.

In vitro testing of lymphoblastoid cell lines (generated from individuals from the 1st and 3rd family) indicated that the variants abolished completely the function of PIGG, whereas the surface level of GPI anchored proteins was normal. //

PMID: 28581210 describes the phenotype of 2 sibs from Palestine, homozygous for a stopgain variant [p.(Trp547*)]. Hypotonia, feeding difficulties, severe non-progressive ataxia (with cerebellar hypoplasia), intellectual disability and seizures were common features. Differences in severity and/or additional features might be explained by other homozygous variants (the girl had a concurrent diagnosis of MCAD deficiency).

The authors demonstrated that the PIGG transcript levels were significantly lower (approximately half) in the two siblings compared to their parents, while the transcripts with the mutation in the heterozygous parents were very low due to nonsense-mediated decay.

Patient fibroblasts showed decreased surface level of GPI-anchored proteins, in contrast with what was noted in lymphoblastoid cells in the previous study. //

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.510 PIGG Konstantinos Varvagiannis gene: PIGG was added
gene: PIGG was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 26996948; 28581210
Phenotypes for gene: PIGG were set to # 616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53
Penetrance for gene: PIGG were set to Complete
Review for gene: PIGG was set to GREEN
gene: PIGG was marked as current diagnostic
Added comment: PMID: 26996948 reports on 5 individuals from 3 families, with biallelic pathogenic variants in PIGG.

Individuals from first family, were born to consanguineous parents from Egypt and were homozygous for a stopgain variant [p.(Gln310*)]. The patient from the second family had a rare missense SNV [p.(Arg669Cys)] and a de novo microdeletion affecting PIGG on her other allele. In the third family (consanguineous parents from Pakistan), two affected sibs were found to be homozygous for a splice variant.

The phenotype consisted of hypotonia, early-onset seizures and intellectual disability. Ataxia was an additional feature in one of the families.

Seizures, were observed in most of patients but do not appear to be a universal feature as they were absent in one of the sibs from the third family (10 years of age), while the other had a single episode by the age of 12 years.

In vitro testing of lymphoblastoid cell lines (generated from individuals from the 1st and 3rd family) indicated that the variants abolished completely the function of PIGG, whereas the surface level of GPI anchored proteins was normal. //

PMID: 28581210 describes the phenotype of 2 sibs from Palestine, homozygous for a stopgain variant [p.(Trp547*)]. Hypotonia, feeding difficulties, severe non-progressive ataxia (with cerebellar hypoplasia), intellectual disability and seizures were common features. Differences in severity and/or additional features might be explained by other homozygous variants (the girl had a concurrent diagnosis of MCAD deficiency).

The authors demonstrated that the PIGG transcript levels were significantly lower (approximately half) in the two siblings compared to their parents, while the transcripts with the mutation in the heterozygous parents were very low due to nonsense-mediated decay.

Patient fibroblasts showed decreased surface level of GPI-anchored proteins, in contrast with what was noted in lymphoblastoid cells in the previous study. //

PIGG has been included in gene panels for intellectual disability offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.510 MEIS2 Konstantinos Varvagiannis reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30291340, 30055086; Phenotypes: Oral cleft, Abnormal heart morphology, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 MAP1B Konstantinos Varvagiannis gene: MAP1B was added
gene: MAP1B was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 30150678; 29738522
Phenotypes for gene: MAP1B were set to Intellectual disability
Penetrance for gene: MAP1B were set to unknown
Review for gene: MAP1B was set to AMBER
Added comment: In PMID 30150678 the authors report on a family with 5 individuals diagnosed with intellectual disability (ID, IQ <= 70 and associated impairments in adaptive function) and 3 further relatives with IQ below 70, not fulfilling the criteria for a clinical diagnosis of ID. A frameshift variant in MAP1B segregated with the ID/low IQ phenotype. This variant was not found in 31463 Icelanders for whom whole genome sequencing data were available.

The authors confirmed association of MAP1B loss-of-function (LoF) variants by demonstrating the presence of 2 other stopgain mutations in 2 further families. Among the 6 mutation carriers in these families, the average IQ was 81 with 2 of these subjects fulfilling the criteria for intellectual disability. 3 of the 6 mutation carriers had a diagnosis of autism spectrum disorder. Carriers demonstrated 24% less white matter volume (-2.1 SD) and 47% less corpus callosum volume (-2.4 SD) compared to controls.

Mean full-scale IQ, performance IQ and verbal IQ were 68.3 (with a SD of 10.5), 66.4 (SD of 9.3) and 74.5 (SD of 14.8) in MAP1B LoF carriers.

All 3 LoF variants reported result in a truncated but stable MAP1B protein as demonstrated by western blot analysis.

MAP1B undergoes post-translational modification and is cleaved (at position 2206) into a heavy chain and a light chain. The authors note that all LoF variants lead to truncation prior to the cleavage site.

As commented by the authors, LoF variants are found in publicly available databases at a frequency of approx. 1 in 10000.

One individual with de novo frameshift variant in Decipher ( https://decipher.sanger.ac.uk/search?q=gene%3AMAP1B#research-variants/results ).

De novo and inherited MAP1B variants have previously been described in individuals with periventricular nodular heterotopia (PMID: 29738522). This was also a feature in 9 individuals in the previous ID study.

Although PMID 30150678 is entitled "MAP1B mutations cause intellectual disability and extensive white matter deficit", intellectual disability was not a feature in all individuals or was rather mild when present.
Sources: Literature, Expert Review
Intellectual disability v2.510 CAMK2G Konstantinos Varvagiannis reviewed gene: CAMK2G: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30184290; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 NSD2 Konstantinos Varvagiannis gene: NSD2 was added
gene: NSD2 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 29892088; 29760529; 29884796; 30244530
Phenotypes for gene: NSD2 were set to Intrauterine growth retardation; Growth delay; Microcephaly; Muscular hypotonia; Neurodevelopmental delay; Intellectual disability
Penetrance for gene: NSD2 were set to unknown
Review for gene: NSD2 was set to GREEN
gene: NSD2 was marked as current diagnostic
Added comment: PMID: 29892088 reports on 2 individuals with de novo SNVs affecting NSD2 (WHSC1). Both individuals presented with pre- and postnatal growth retardation, hypotonia, developmental delay / intellectual disability, as well as microcephaly. The authors suggest partial overlap with the phenotype of Wolf-Hirschhorn syndrome (WHS). Seizures are not part of the phenotype.The first subject had a splice site mutation while the second individual had a stopgain variant (affecting the PWWP domain).

PMID: 29760529 describes a further patient with de novo nonsense mutation in NSD2. The boy was evaluated for probable growth delay ("low physical development"), hypotonia, psychomotor delay and microcephaly. The variant affected the SET domain.

Three individuals with de novo likely loss-of-function (two frameshift and one stop gained) variants in Decipher [ https://decipher.sanger.ac.uk/search?q=NSD2#research-variants/results ].

A further patient with de novo frameshift mutation in NSD2 and a phenotype overlapping WHS reported in ClinVar [ https://www.ncbi.nlm.nih.gov/clinvar/variation/547999/ ]

PMID: 29884796 (Zollino M and Doronzio PN) comments that NSD2 (WHSC1) is a neurodevelopmental gene with a role in growth delay, intellectual disability and dysmorphic facial features.

PMID: 30244530 describes patients with 4p16.3 microdeletions spanning (exclusively) NSD2 and reviews the literature on patients with small microdeletions reported to date. All relevant individuals present with developmental delay and (rather mild) intellectual disability apart from other characteristics such as microcephaly, growth retardation and some facial features also observed in WHS.

In Decipher one individual (286913) with a single CNV spanning exclusively NSD2 presenting with IUGR, failure to thrive, feeding difficulties, postnatal microcephaly, hypotonia, developmental delay as well as possibly relevant facial features.

The gene is included in ID gene panels offered by various labs (either as NSD2 or WHSC1).

As a result it can be considered for inclusion in the panel as green.
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.503 KCNK4 Konstantinos Varvagiannis gene: KCNK4 was added
gene: KCNK4 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Neurodevelopmental delay; Intellectual disability; Seizures; Gingival overgrowth; Hypertrichosis
Penetrance for gene: KCNK4 were set to unknown
Mode of pathogenicity for gene: KCNK4 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: KCNK4 was set to AMBER
Added comment: PMID: 30290154 reports on 3 unrelated individuals with de novo missense KCNK4 variants. All three individuals presented with developmental delay and epilepsy. Severe intellectual disability was a feature in two of these individuals while the third displayed low average intellectual functioning (IQ of 85). Other features common in all included facial dysmorphism (bushy eyebrows, long eyelashes, thin everted upper lip, micrognathia), generalized hypertrichosis and gingival overgrowth.

The two missense variants reported [(p.Ala172Glu) and (p.Ala244Pro)] occurred as de novo events in all subjects, while the first SNV was observed in 2 (of the 3) patients with severe intellectual disability.

Functional studies were suggestive of a gain-of-function effect. In line with this mechanism, Kcnk4 knockout mice did not seem to exhibit seizures, deficits in cognition or other neurodevelopmental phenotypes in a study conducted earlier and cited by the authors (PMID: 15175651).

As a result this gene can be considered for inclusion in the panel as amber (or green).
Sources: Expert Review, Literature
Intellectual disability v2.510 KCNK4 Konstantinos Varvagiannis gene: KCNK4 was added
gene: KCNK4 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Neurodevelopmental delay; Intellectual disability; Seizures; Gingival overgrowth; Hypertrichosis
Penetrance for gene: KCNK4 were set to unknown
Mode of pathogenicity for gene: KCNK4 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: KCNK4 was set to AMBER
Added comment: PMID: 30290154 reports on 3 unrelated individuals with de novo missense KCNK4 variants. All three individuals presented with developmental delay and epilepsy. Severe intellectual disability was a feature in two of these individuals while the third displayed low average intellectual functioning (IQ of 85). Other features common in all included facial dysmorphism (bushy eyebrows, long eyelashes, thin everted upper lip, micrognathia), generalized hypertrichosis and gingival overgrowth.

The two missense variants reported [(p.Ala172Glu) and (p.Ala244Pro)] occurred as de novo events in all subjects, while the first SNV was observed in 2 (of the 3) patients with severe intellectual disability.

Functional studies were suggestive of a gain-of-function effect. In line with this mechanism, Kcnk4 knockout mice did not seem to exhibit seizures, deficits in cognition or other neurodevelopmental phenotypes in a study conducted earlier and cited by the authors (PMID: 15175651).

As a result this gene can be considered for inclusion in the panel as amber (or green).
Sources: Literature, Expert Review
Limb disorders v0.217 TCTN2 Rebecca Foulger Marked gene: TCTN2 as ready
Limb disorders v0.217 TCTN2 Rebecca Foulger Added comment: Comment when marking as ready: 2 cases of polydactyl in literature plus mouse model.
Limb disorders v0.217 TCTN2 Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence).
Limb disorders v0.217 TCTN2 Rebecca Foulger Classified gene: TCTN2 as Green List (high evidence)
Limb disorders v0.217 TCTN2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: 2 cases of polydactyly in literature as part of Joubert syndrome (PMID:25118024) and Meckel-Gruber syndrome (PMID:21462283) PLUS mouse model of polydactyly (PMID:21565611).
Limb disorders v0.217 TCTN2 Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence).
Limb disorders v0.216 TCTN2 Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly to Polydactyly; Joubert syndrome 24, 616654; ?Meckel syndrome 8, 613885; postaxial polydactyly
Limb disorders v0.215 TCTN2 Rebecca Foulger commented on gene: TCTN2: Sang et al (2011, PMID:21565611) report a mouse model of Tctn2-/- embryos that exhibit defects including single hindlimb preaxial polydactyly, either bilaterally or unilaterally.
Limb disorders v0.215 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to 25118024; 21565611
Limb disorders v0.214 TCTN2 Rebecca Foulger commented on gene: TCTN2: In affected members of a consanguineous Arab family with Meckel-Gruber syndrome, Shaheen et al. (2011, PMID:21462283) identified homozygosity for a splice site mutation in the TCTN2 gene (1506-2A-G). Phenotypes included polydactyly in all recorded patients.
Limb disorders v0.214 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to
Limb disorders v0.213 TCTN2 Rebecca Foulger commented on gene: TCTN2: Huppke et al. (2015, PMID:25118024) reported a 7.5-year-old Turkish boy, born of consanguineous parents, with a neurodevelopmental disorder consistent with Joubert syndrome. At birth, the patient was noted to have postaxial hexadactyly of all 4 extremities. The authors identified a homozygous splice site mutation in the TCTN2 gene (c.1235-1G-A, NM_024809.4). The unaffected mother was heterozygous for the variant.
Limb disorders v0.213 TCTN2 Rebecca Foulger commented on gene: TCTN2
Intellectual disability v2.510 PORCN Ellen McDonagh Added comment: Comment on mode of inheritance: For Focal dermal hypoplasia, heterozygous females are affected. Confirmed with the Genomics England Clinical Team prior to revision from biallelic in females.
Intellectual disability v2.510 PORCN Ellen McDonagh Mode of inheritance for gene: PORCN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.11 HNRNPDL Ellen McDonagh Tag watchlist tag was added to gene: HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.11 HNRNPDL Ellen McDonagh commented on gene: HNRNPDL: When the gene is knocked down in zebrafish it causes a myopathic phenotype (same study). No new cases have been reported in the literature since this publication in 2014.
Monogenic hearing loss v1.47 KCNQ4 Ellen McDonagh Publications for gene: KCNQ4 were set to 26036578; 10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484
Monogenic hearing loss v1.46 KCNQ4 Ellen McDonagh commented on gene: KCNQ4: Updating the mode of inheritance from monoallelic to 'both', after feedback from an Expert Reviewer who has another case in their lab. Feedback also included that the mice model with a homozygous 'dominant negative' mutation are also affected by progressive deafness.
Monogenic hearing loss v1.46 KCNQ4 Ellen McDonagh Source Expert was removed from KCNQ4.
Mode of inheritance for gene KCNQ4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Monogenic hearing loss v1.45 KCNQ4 Ellen McDonagh Tag watchlist tag was added to gene: KCNQ4.
Monogenic hearing loss v1.45 KCNQ4 Ellen McDonagh Publications for gene: KCNQ4 were set to 26036578; 10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484
Monogenic hearing loss v1.44 KCNQ4 Ellen McDonagh Publications for gene: KCNQ4 were set to PMID:10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484
Monogenic hearing loss v1.43 WHRN Ellen McDonagh commented on gene: WHRN
Monogenic hearing loss v1.43 KARS Ellen McDonagh commented on gene: KARS
Monogenic hearing loss v1.43 ILDR1 Ellen McDonagh commented on gene: ILDR1
Monogenic hearing loss v1.43 HSD17B4 Ellen McDonagh commented on gene: HSD17B4
Monogenic hearing loss v1.43 GRXCR1 Ellen McDonagh commented on gene: GRXCR1
Monogenic hearing loss v1.43 GRHL2 Ellen McDonagh commented on gene: GRHL2: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 GPSM2 Ellen McDonagh commented on gene: GPSM2
Monogenic hearing loss v1.43 GJB2 Ellen McDonagh commented on gene: GJB2: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 GJB2 Ellen McDonagh commented on gene: GJB2: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 GIPC3 Ellen McDonagh commented on gene: GIPC3
Monogenic hearing loss v1.43 EYA4 Ellen McDonagh commented on gene: EYA4: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 EYA1 Ellen McDonagh commented on gene: EYA1
Monogenic hearing loss v1.43 ESRRB Ellen McDonagh commented on gene: ESRRB
Monogenic hearing loss v1.43 EDNRB Ellen McDonagh commented on gene: EDNRB: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 EDN3 Ellen McDonagh commented on gene: EDN3: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 DFNA5 Ellen McDonagh commented on gene: DFNA5: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 DFNB59 Ellen McDonagh commented on gene: DFNB59
Monogenic hearing loss v1.43 COCH Ellen McDonagh commented on gene: COCH: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 CLRN1 Ellen McDonagh commented on gene: CLRN1
Monogenic hearing loss v1.43 CLPP Ellen McDonagh commented on gene: CLPP
Monogenic hearing loss v1.43 CLDN14 Ellen McDonagh commented on gene: CLDN14
Monogenic hearing loss v1.43 CIB2 Ellen McDonagh commented on gene: CIB2
Monogenic hearing loss v1.43 CDH23 Ellen McDonagh commented on gene: CDH23: New review confirms gene status and mode of inheritance; no changes required.
Amelogenesis imperfecta v1.5 SLC10A7 Ellen McDonagh gene: SLC10A7 was added
gene: SLC10A7 was added to Amelogenesis Imperfecta. Sources: Literature
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta
Added comment: PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies. This gene is not related to a disease in OMIM or Gene2Phenotype.
Sources: Literature
Skeletal dysplasia v1.127 SLC10A7 Ellen McDonagh commented on gene: SLC10A7: This gene is not related to a disease in OMIM or Gene2Phenotype.
Skeletal dysplasia v1.127 SLC10A7 Ellen McDonagh gene: SLC10A7 was added
gene: SLC10A7 was added to Unexplained skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta
Added comment: PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies.
Sources: Literature
Limb disorders v0.213 TCTN2 Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly to Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly
Limb disorders v0.212 DYNC2H1 Rebecca Foulger commented on gene: DYNC2H1
Limb disorders v0.212 DYNC2H1 Rebecca Foulger Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Marked gene: TCTEX1D2 as ready
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Gene: tctex1d2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: Added 'watchlist' tag.
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Tag watchlist tag was added to gene: TCTEX1D2.
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Classified gene: TCTEX1D2 as Amber List (moderate evidence)
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber: Two cases (PMID:26044572) presenting with polydactyly and/or brachydactyly as part of Short-rib thoracic dysplasia. A further case in the same paper removes part of the TM4SF19 gene in addition to part of the TCTEX1D2 gene. Therefore require further evidence of TCTEX1D2 variants causing limb phenotype before rating Green.
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Gene: tctex1d2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.210 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: In a third family (UCL4) reported by Schmidts et al. (2015, PMID:26044572), 3 affected sibs were homozygous for a more than 10-kb deletion removing the start codon and exons 1 and 2 of the TCTEX1D2 gene (and exons 2-5 of the neighbouring TM4SF19 gene). The deletion was also detected in 2 apparently unaffected sibs, indicating reduced penetrance. Some members of this family showed mild brachydactyly.
Limb disorders v0.210 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2
Limb disorders v0.210 TCTEX1D2 Rebecca Foulger Publications for gene: TCTEX1D2 were set to
Limb disorders v0.209 TCTEX1D2 Rebecca Foulger Phenotypes for gene: TCTEX1D2 were changed from Polydactyly to Polydactyly; Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Brachydactyly
Limb disorders v0.208 TBX22 Rebecca Foulger Marked gene: TBX22 as ready
Limb disorders v0.208 TBX22 Rebecca Foulger Gene: tbx22 has been classified as Red List (Low Evidence).
Limb disorders v0.208 TBX22 Rebecca Foulger Publications for gene: TBX22 were set to 21375406; 839509
Limb disorders v0.207 TBX22 Rebecca Foulger Classified gene: TBX22 as Red List (low evidence)
Limb disorders v0.207 TBX22 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red: there is some evidence linking limb anomalies to TBX22 variants (PMID:21375406) but currently insufficient cases for inclusion on a diagnostic panel.
Limb disorders v0.207 TBX22 Rebecca Foulger Gene: tbx22 has been classified as Red List (Low Evidence).
Limb disorders v0.206 TBX22 Rebecca Foulger commented on gene: TBX22: Abruzzo-Erickson syndrome (MIM:302905, reported by Abruzzo and Erickson in 1977, PMID:839509) includes radial synostosis (an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth).
Limb disorders v0.206 TBX22 Rebecca Foulger Publications for gene: TBX22 were set to
Limb disorders v0.205 TBX22 Rebecca Foulger commented on gene: TBX22
Limb disorders v0.205 TBX22 Rebecca Foulger Phenotypes for gene: TBX22 were changed from Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis; upper limb anomalies; clinodactyly
Limb disorders v0.204 TBX22 Rebecca Foulger Phenotypes for gene: TBX22 were changed from Polydactyly to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis
Limb disorders v0.203 TBX22 Rebecca Foulger Mode of inheritance for gene: TBX22 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)
Limb disorders v0.202 SPINT2 Rebecca Foulger Marked gene: SPINT2 as ready
Limb disorders v0.202 SPINT2 Rebecca Foulger Gene: spint2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.202 SPINT2 Rebecca Foulger commented on gene: SPINT2: Added 'watchlist' tag: require further evidence for a diagnostic rating.
Limb disorders v0.202 SPINT2 Rebecca Foulger Tag watchlist tag was added to gene: SPINT2.
Limb disorders v0.202 SPINT2 Rebecca Foulger Classified gene: SPINT2 as Amber List (moderate evidence)
Limb disorders v0.202 SPINT2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. 2 cases from literature where congenital diarrhea (CSD) presents with hexadactyly. Need more evidence before rating as diagnostic.
Limb disorders v0.202 SPINT2 Rebecca Foulger Gene: spint2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.509 RAC3 Konstantinos Varvagiannis gene: RAC3 was added
gene: RAC3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAC3 were set to 30293988; 29276006
Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability
Penetrance for gene: RAC3 were set to unknown
Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RAC3 was set to GREEN
Added comment: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients.

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

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

Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006).

As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
CAKUT v1.27 BNC2 Louise Daugherty Tag watchlist tag was added to gene: BNC2.
CAKUT v1.27 BNC2 Louise Daugherty Classified gene: BNC2 as Amber List (moderate evidence)
CAKUT v1.27 BNC2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. Changed from Red to Amber and added tag watchlist. Awaiting publication before making gene green.
CAKUT v1.27 BNC2 Louise Daugherty Gene: bnc2 has been classified as Amber List (Moderate Evidence).
CAKUT v1.26 BNC2 Louise Daugherty Phenotypes for gene: BNC2 were changed from PUV to Posterior urethral valves; PUV
Intellectual disability v2.509 PCGF2 Louise Daugherty commented on gene: PCGF2: Added watchlist tag.
Intellectual disability v2.509 PCGF2 Louise Daugherty Tag watchlist tag was added to gene: PCGF2.
Intellectual disability v2.509 MSL3 Konstantinos Varvagiannis reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30224647; Phenotypes: Muscular hypotonia, Feeding difficulties, Neurodevelopmental delay, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams commented on gene: FOXF1: Genomics England clinical team suggest inclusion of this gene as an infant might be investigated for anorectal malformation before recognising the cause of the respiratory problems.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Classified gene: FOXF1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Added comment: Comment on list classification: Rating as green. 3 cases/families with point mutations in FOXF1 in individuals showing a anorectal malformation phenotype in patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (PMID: 23505205) and a further case described in PMID: 26294094 from a patient with VATER/VACTERL or VATER/VACTERL-like phenotype.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Green List (High Evidence).
Intellectual disability v2.509 LAMA1 Louise Daugherty Publications for gene: LAMA1 were set to 21937992
Non-syndromic familial congenital anorectal malformations v0.85 FAM58A Eleanor Williams Added comment: Comment on mode of inheritance: All reported cases have been in females.
Non-syndromic familial congenital anorectal malformations v0.85 FAM58A Eleanor Williams Mode of inheritance for gene: FAM58A 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)
Non-syndromic familial congenital anorectal malformations v0.84 FAM58A Eleanor Williams Publications for gene: FAM58A were set to 18297069; 8818947; 28225384
Non-syndromic familial congenital anorectal malformations v0.83 FAM58A Eleanor Williams Classified gene: FAM58A as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.83 FAM58A Eleanor Williams Added comment: Comment on list classification: Rated green as 3 cases/families with point mutations in this gene, leading to potentially deleterious effects have been reported.
Non-syndromic familial congenital anorectal malformations v0.83 FAM58A Eleanor Williams Gene: fam58a has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.82 FAM58A Eleanor Williams Phenotypes for gene: FAM58A were changed from anorectal malformation to anorectal malformation; STAR syndrome 300707
Non-syndromic familial congenital anorectal malformations v0.81 FAM58A Eleanor Williams Publications for gene: FAM58A were set to
Non-syndromic familial congenital anorectal malformations v0.80 FAM58A Eleanor Williams commented on gene: FAM58A: FAM58A (CCNQ) is associated with STAR syndrome in OMIM and Gene2Phenotype (confirmed).

Unger et al. (2008)(PMID: 18297069) found 2 females with anogenital and renal malformations, dysmorphic facial features, normal intelligence, and syndactyly of toes with genomic deletions removing regions of the FAM58A gene. In another 4 affected females, the authors found 3 different heterozygous point mutations. Two of these patients, a mother-daughter pair, had been reported by Green et al. (1996) (PMID: 8818947). All 6 patients showed anal atresia.

Lefroy et al. (2017)(PMID: 28225384) identified a heterozygous deletion of the FAM58A gene in a 19-year-old woman with STAR syndrome. Her mother, who had only bilateral 4-5 toe syndactyly, was found to have approximately 50% mosaicism for the same deletion.
Non-syndromic familial congenital anorectal malformations v0.80 CASK Eleanor Williams Publications for gene: CASK were set to
Non-syndromic familial congenital anorectal malformations v0.79 CASK Eleanor Williams Phenotypes for gene: CASK were changed from anorectal malformation to anorectal malformation; FG syndrome 4 300422
Non-syndromic familial congenital anorectal malformations v0.78 CASK Eleanor Williams commented on gene: CASK: In OMIM CASK is associated with FG syndrome 4. OMIM reports that in affected members of an Italian family with FG syndrome-4 (300422), Piluso et al. (2009)(PMID: 19200522) identified a missense mutation (R28L) in the CASK gene that segregated fully with the disease and was not found in 1,000 ethnically matched control X chromosomes. The three affected males have many clinical signs of FG syndrome and marked mental retardation, relative macrocephaly, congenital hypotonia, behavioral disturbances, and severe constipation. The substitution is at a highly conserved residue in the CaM-kinase domain.

A search of PubMed finds the report of Dunn et al (2017)(PMID: 28139025) which describes a patient with a de novo splice site mutation in CASK (c.2521-2A>G) and clinical features of the FG syndrome-4 including severe constiptation.

Other reports of variants in the CASK gene and X-linked mental retardation with additional phenotypic features (e.g. Hackett et al., 2010 (PMID: 20029458), Moog et al., 2015 (PMID: 25886057) but they do not appear to show an anorectal associated phenotype.
Non-syndromic familial congenital anorectal malformations v0.78 MED12 Eleanor Williams Phenotypes for gene: MED12 were changed from anorectal malformation to anorectal malformation; Opitz-Kaveggia syndrome 305450; FG SYNDROME 1; FG SYNDROME
Non-syndromic familial congenital anorectal malformations v0.77 MED12 Eleanor Williams Publications for gene: MED12 were set to
Non-syndromic familial congenital anorectal malformations v0.76 MED12 Eleanor Williams Mode of inheritance for gene: MED12 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.75 MED12 Eleanor Williams Classified gene: MED12 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.75 MED12 Eleanor Williams Added comment: Comment on list classification: Rated green as more than 3 families with the R961W variant show a relevant phenotype.
Non-syndromic familial congenital anorectal malformations v0.75 MED12 Eleanor Williams Gene: med12 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.74 MED12 Eleanor Williams commented on gene: MED12: MED12 is associated with Opitz-Kaveggia syndrome (also known as FG syndrome and FG syndrome 1) in OMIM and Gene2Phenotype (confirmed). Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, but phenotypes relevant to this panel also include anal stenosis, imperforate anus anteriorly placed anus and constipation.

As stated in OMIM Risheg et al 2007 (PMID: 17334363) reported that the original family from which the designation FG was derived and 5 other families had a recurrent mutation in the MED12 gene, R961W. Imperforate anus, wide flat thumbs, and wide great toes were present in 7 of 10 cases. Failure to find the change in 451 normal men and in 343 consecutive newborn males suggested that it is not a rare polymorphic variant. The finding of the mutation in patients of various ethnic backgrounds suggested that families did not share a common ancestor.

Ding et al. (2008) (PMID: 18691967) showed that the R961W substitution disrupt the REST corepressor function of MED12.

Other variants in MED12 are linked to other syndromes such as LUJAN-FRYNS SYNDROME and OHDO SYNDROME, X-LINKED.
Non-syndromic familial congenital anorectal malformations v0.74 FOXF1 Eleanor Williams Phenotypes for gene: FOXF1 were changed from anorectal malformation; VATER/VACTERL-like; VATER/VACTERL to anorectal malformation; VATER/VACTERL-like; VATER/VACTERL; Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Non-syndromic familial congenital anorectal malformations v0.73 FOXF1 Eleanor Williams Publications for gene: FOXF1 were set to 26294094
Non-syndromic familial congenital anorectal malformations v0.72 FOXF1 Eleanor Williams Mode of inheritance for gene: FOXF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.71 FOXF1 Eleanor Williams commented on gene: FOXF1: FOXF1 is associated with Alveolar capillary dysplasia with misalignment of pulmonary veins in OMIM and Gene2Phenotype (confirmed). Although the main features of this disorder are concerned a pulmonary phenotype, gastrointestinal phenotypes may also be seen including

Stankiewicz et al. (2009)(PMID: 19500772) identified four different heterozygous mutations (frameshift, nonsense, and no-stop) in the candidate FOXF1 gene in unrelated patients with sporadic Alveolar capillary dysplasia with misalignment of pulmonary veins and multiple congenital anomalies. They also identified microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in some patients. They note an association of point mutations in FOXF1 with bowel malrotation, and that microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes.

Sen et al. (2013)(PMID: 23505205) report a further set of 34 novel de novo and four familial mutations of which three are maternally inherited, in unrelated patients with ACD/MPV that imply a role for FOXF1 DNA-binding domain. Three maternally inherited cases are consistent with the finding that FOXF1 is paternally imprinted. Out of 42 patients with point mutations they report imperforate anus or anal atresia in 3 patients (7%), and other intestinal problems such as duedenal atresia, and intestinal malrotation in several more.

Slot et al (2018)(PMID: 30058937) provide a more recent review of the now over 200 reported cases.
Non-syndromic familial congenital anorectal malformations v0.71 MYCN Eleanor Williams Phenotypes for gene: MYCN were changed from anorectal malformation to anorectal malformation; Feingold syndrome 1 164280
Non-syndromic familial congenital anorectal malformations v0.70 MYCN Eleanor Williams Mode of inheritance for gene: MYCN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.69 MYCN Eleanor Williams Publications for gene: MYCN were set to
Non-syndromic familial congenital anorectal malformations v0.68 MYCN Eleanor Williams commented on gene: MYCN: MYCN is associated with Feingold syndrome 1 in OMIM and a confirmed association with this disorder in Gene2Phenotype. Phenotypic features of this syndrome include variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

Marcelis et al 2008 (PMID: 18470948) sequenced MYCN in 130 patients, 93 of which had a strong clinical suspicion of Feingold syndrome, the rest were missing some of the core features. 16 heterozygous mutations in MYCN were found in 26 patients from 17 families. All mutations either occurred de novo or segregated withthe disease in the family. Together with previous reports, a total of 23 separate MYCN mutations in 77 patients from 32 families have now been described. A total of 19 of the mutations create a stop codon or cause a frameshift. Out of 77 patients 55% showed atresias of the gastrointestinal tract. Esophageal atresia and duodenal atresia were almost equally frequent, 32 vs. 31%. Other atresias, jejunal or anal, are rare.
CAKUT v1.25 BNC2 Detlef Bockenhauer gene: BNC2 was added
gene: BNC2 was added to CAKUT. Sources: Other
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to PUV
Penetrance for gene: BNC2 were set to Complete
Mode of pathogenicity for gene: BNC2 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: BNC2 was set to RED
Added comment: BNC2 was presented at the European Society of Paediatric Nephrology meeting in October 2018 as a new disease gene causing posterior urethral valves (PUV) by Dr Alina Hilger from Bonn, Germany. It was identified in 3 families affected by PUV. A publication is reportedly submitted.
Sources: Other
Non-syndromic familial congenital anorectal malformations v0.68 PTEN Eleanor Williams commented on gene: PTEN: The patient described in Reardon et al 2001 (PMID:11748304) with novel heterozygous germline mutation in PTEN (H61D), in a patient with features of VATER association does NOT show anorectal malformation.
Non-syndromic familial congenital anorectal malformations v0.68 HOXD13 Eleanor Williams Publications for gene: HOXD13 were set to
Non-syndromic familial congenital anorectal malformations v0.67 HOXD13 Eleanor Williams commented on gene: HOXD13: Garcia-Barceló et al 2008 (PMID:19006232) report a heterozygous ‘‘denovo’’ mutation consisting of a 21base-pair deletion (c.163_183del) in the HOXD13 gene in a VACTERL patient presenting with tetralogy of Fallot (heart defect), vesicoureteric reflux, fusion of the distal inter-phalangealjoints of the 4th and 5th toes and anal atresia. Parents and child were screened for variants in SHH, GLI3, and HOXD13. The mutation resulted in the removal of 7 alanines, No polyalanine contraction was found in 192 chromosomes of unrelated andethnically matched healthy individuals. There is the possibility that the HOXD13 mutation identified is only responsible for the digital phenotype and that a second mutation elsewhere in the genome exists that may explain the complexity of the phenotype.
Non-syndromic familial congenital anorectal malformations v0.67 CDX2 Eleanor Williams Publications for gene: CDX2 were set to
Non-syndromic familial congenital anorectal malformations v0.66 CDX1 Eleanor Williams Publications for gene: CDX1 were set to 23329892
Non-syndromic familial congenital anorectal malformations v0.65 CDX1 Eleanor Williams commented on gene: CDX1: Tang et al 2016 (PMID: 27042391) show that CDX1 is expressed in the developing cloaca/hindgut in human embryos from weeks 4 to 9.
Non-syndromic familial congenital anorectal malformations v0.65 CDX2 Eleanor Williams commented on gene: CDX2: Gao et al 2009 (PMID: 19386267) show that mice with Cdx2 ablated conditionally in the developing gut display severe hindgut abnormalities with a failure of colon development and a complete terminal blockage.

Tang et al 2016 (PMID: 27042391) show that CDX2 is expressed in the developing cloaca/hindgut in human embryos from weeks 4 to 9.
Limb disorders v0.201 SEM1 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by expert review
Limb disorders v0.201 SEM1 Louise Daugherty Mode of inheritance for gene: SEM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.508 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.508 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient number of cases.
Intellectual disability v2.508 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient number of cases.
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient number of cases.
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient cases
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Appropriate phenotype, sufficient cases
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Sufficient cases with appropriate phenotype
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.507 FBXO11 Helen Brittain Classified gene: FBXO11 as Green List (high evidence)
Intellectual disability v2.507 FBXO11 Helen Brittain Added comment: Comment on list classification: Sufficient cases with appropriate phenotype
Intellectual disability v2.507 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability v2.506 FBXO11 Helen Brittain Marked gene: FBXO11 as ready
Intellectual disability v2.506 FBXO11 Helen Brittain Added comment: Comment when marking as ready: Appropriate phenotype and sufficient cases
Intellectual disability v2.506 FBXO11 Helen Brittain Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.65 SALL1 Eleanor Williams Classified gene: SALL1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.65 SALL1 Eleanor Williams Added comment: Comment on list classification: Rating as Green following feedback from the Genomics England clinical team. Although not all cases of Townes-Brocks syndrome 1 present with this phenotype, it is conceivably part of the presenting phenotype.
Non-syndromic familial congenital anorectal malformations v0.65 SALL1 Eleanor Williams Gene: sall1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.21 RAC2 Louise Daugherty commented on gene: RAC2: Added watch list tag. Decided to leave the rating for this gene as Amber, this is borderline, as the Invitae reported variant would make a second case, there is not enough supporting evidence
Primary immunodeficiency or monogenic inflammatory bowel disease v1.21 RAC2 Louise Daugherty Tag watchlist tag was added to gene: RAC2.
Early onset or syndromic epilepsy v0.503 RNASEH2B Louise Daugherty Added comment: Comment on phenotypes: Added Phenotypes suggested by external expert reviwer
Early onset or syndromic epilepsy v0.503 RNASEH2B Louise Daugherty Phenotypes for gene: RNASEH2B were changed from to Aicardi-Goutieres syndrome 2, MIM#610181
Early onset or syndromic epilepsy v0.503 KCNMA1 Louise Daugherty Added comment: Comment on publications: added new publication
Early onset or syndromic epilepsy v0.503 KCNMA1 Louise Daugherty Publications for gene: KCNMA1 were set to 15937479; 26195193; 27567911
Early onset or syndromic epilepsy v0.502 KIF1BP Rebecca Foulger Publications for gene: KIF1BP were set to 15883926; 28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to 15883926; 28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Source Victorian Clinical Genetics Services was removed from KIF1BP.
Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome to Goldberg-Shprintzen megacolon syndrome 609460
Publications for gene KIF1BP were changed from Brooks et al (2005) Am J Hum Genet 77: 120_126 to 15883926; 28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to Brooks et al (2005) Am J Hum Genet 77: 120_126
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Added comment: Comment on publications: 15883926;28277559
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to Brooks et al (2005) Am J Hum Genet 77: 120_126
Early onset or syndromic epilepsy v0.502 KIF1BP Sarah Leigh Publications for gene: KIF1BP were set to Brooks et al (2005) Am J Hum Genet 77: 120_126
Limb disorders v0.200 SPINT2 Rebecca Foulger Publications for gene: SPINT2 were set to 24142340; 19185281
Limb disorders v0.199 SPINT2 Rebecca Foulger Phenotypes for gene: SPINT2 were changed from Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly; congenital sodium diarrhea with additional syndromic features
Limb disorders v0.198 ARL6 Eleanor Williams Phenotypes for gene: ARL6 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 3 600151
Limb disorders v0.197 ARL6 Eleanor Williams Publications for gene: ARL6 were set to
Limb disorders v0.196 ARL6 Eleanor Williams Mode of inheritance for gene: ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.195 ARL6 Eleanor Williams Classified gene: ARL6 as Green List (high evidence)
Limb disorders v0.195 ARL6 Eleanor Williams Added comment: Comment on list classification: Rated green as variants in the ARL6 gene is associated with Bardet-Biedl syndrome 3 in more than cases/families.
Limb disorders v0.195 ARL6 Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence).
Limb disorders v0.194 BBS1 Eleanor Williams Phenotypes for gene: BBS1 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 1209900
Limb disorders v0.193 BBS1 Eleanor Williams Publications for gene: BBS1 were set to
Limb disorders v0.192 BBS1 Eleanor Williams Added comment: Comment on mode of inheritance: Also reported as Digenic recessive in OMIM
Limb disorders v0.192 BBS1 Eleanor Williams Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.191 BBS1 Eleanor Williams Classified gene: BBS1 as Green List (high evidence)
Limb disorders v0.191 BBS1 Eleanor Williams Added comment: Comment on list classification: More than 3 cases/families reported of variants in this gene in individuals with Bardet-Biedl syndrome 1.
Limb disorders v0.191 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Limb disorders v0.190 BBS1 Eleanor Williams commented on gene: BBS1
Limb disorders v0.190 B9D2 Eleanor Williams Classified gene: B9D2 as Red List (low evidence)
Limb disorders v0.190 B9D2 Eleanor Williams Added comment: Comment on list classification: Rating as red as only 1 variant reported in 1 family in association with Meckel syndrome 10.
Limb disorders v0.190 B9D2 Eleanor Williams Gene: b9d2 has been classified as Red List (Low Evidence).
Limb disorders v0.189 B9D2 Eleanor Williams Phenotypes for gene: B9D2 were changed from Polydactyly to Polydactyly; ?Meckel syndrome 10 614175; Joubert syndrome 34 614175
Limb disorders v0.188 B9D2 Eleanor Williams Publications for gene: B9D2 were set to
Limb disorders v0.187 B9D2 Eleanor Williams commented on gene: B9D2
Limb disorders v0.187 B9D1 Eleanor Williams Phenotypes for gene: B9D1 were changed from Polydactyly to Polydactyly; ?Meckel syndrome 9 614209; Joubert syndrome 27 617120
Limb disorders v0.186 B9D1 Eleanor Williams Publications for gene: B9D1 were set to
Limb disorders v0.185 B9D1 Eleanor Williams Classified gene: B9D1 as Red List (low evidence)
Limb disorders v0.185 B9D1 Eleanor Williams Added comment: Comment on list classification: Rating red as insufficient evidence to associate this gene with Meckel syndrome 9.
Limb disorders v0.185 B9D1 Eleanor Williams Gene: b9d1 has been classified as Red List (Low Evidence).
Limb disorders v0.184 B9D1 Eleanor Williams commented on gene: B9D1
Limb disorders v0.184 ARMC8 Eleanor Williams Classified gene: ARMC8 as Red List (low evidence)
Limb disorders v0.184 ARMC8 Eleanor Williams Added comment: Comment on list classification: No evidence found for an association of this gene with any limb disorder phenotypes.
Limb disorders v0.184 ARMC8 Eleanor Williams Gene: armc8 has been classified as Red List (Low Evidence).
Limb disorders v0.183 ARMC8 Eleanor Williams commented on gene: ARMC8
Limb disorders v0.183 ARL6 Eleanor Williams commented on gene: ARL6
Skeletal dysplasia v1.126 PDE3A Louise Daugherty Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome 112410 to Hypertension and brachydactyly syndrome, 112410
Skeletal dysplasia v1.125 PDE3A Louise Daugherty Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Skeletal dysplasia v1.124 DLL4 Louise Daugherty Phenotypes for gene: DLL4 were changed from Adams-Oliver syndrome 6 616589 to Adams-Oliver syndrome 6, 616589
Skeletal dysplasia v1.123 DVL3 Louise Daugherty Phenotypes for gene: DVL3 were changed from Robinow syndrome, autosomal dominant 3 616894 to Robinow syndrome, autosomal dominant 3, 616894
Clefting v1.30 TGFB2 Louise Daugherty Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 4, 614816
Limb disorders v0.183 ALX3 Eleanor Williams Classified gene: ALX3 as Red List (low evidence)
Limb disorders v0.183 ALX3 Eleanor Williams Added comment: Comment on list classification: Rating this gene as red as no clear evidence that ALX3 is associated with a limb disorder phenotype.
Limb disorders v0.183 ALX3 Eleanor Williams Gene: alx3 has been classified as Red List (Low Evidence).
Limb disorders v0.182 ALX3 Eleanor Williams commented on gene: ALX3
Ocular coloboma v1.18 SPINT2 Rebecca Foulger Classified gene: SPINT2 as Red List (low evidence)
Ocular coloboma v1.18 SPINT2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red: 2 cases of congenital sodium diarrhea (CSD) with ocular coloboma, but second variant wasn't identified in the 2014 paper (PMID:24142340).
Ocular coloboma v1.18 SPINT2 Rebecca Foulger Gene: spint2 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Classified gene: GLI3 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Added comment: Comment on list classification: Rating as green as sufficient evidence of association with Pallister-Hall
syndrome, which has anorectal malformation as part of the phenotype and potential early presentation of anorectal anomalies.
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence).
Ocular coloboma v1.17 SPINT2 Rebecca Foulger gene: SPINT2 was added
gene: SPINT2 was added to Ocular coloboma. Sources: Literature
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 29575628; 24142340
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420; optic nerve coloboma; congenital sodium diarrhea with additional features
Added comment: PMID:29575628 (Hirabayashi et al 2018) present a child with congenital sodium diarrhea, bilateral cleft lip and palate, corneal erosions, optic nerve coloboma and intermittent exotropia who was found to have compound heterozygous variants in SPINT2 (c.488A>G/p.Tyr163Cys and c.166_167dupTA/p.Asn57Thrfs*24). This is second reported case of an optic nerve coloboma associated with a SPINT2 variant: Salomon et al. (2014, PMID:24142340) reported a patient with optic nerve coloboma. The patient was heterozygous for Tyr163Cys but a second SPINT2 variant was not identified.
Sources: Literature
Limb disorders v0.182 AKT3 Eleanor Williams Classified gene: AKT3 as Red List (low evidence)
Limb disorders v0.182 AKT3 Eleanor Williams Added comment: Comment on list classification: Rating as red. Insufficient evidence for AKT3 association with polydactyly.
Limb disorders v0.182 AKT3 Eleanor Williams Gene: akt3 has been classified as Red List (Low Evidence).
Limb disorders v0.181 AHI1 Eleanor Williams Classified gene: AHI1 as Red List (low evidence)
Limb disorders v0.181 AHI1 Eleanor Williams Added comment: Comment on list classification: Rating as red from feedback from Genomics England clinical team. The presentation of Joubert syndrome is usually broader than isolated polydactyly. It could be useful for the diagnosis of neonates but not for any patients older than this.
Limb disorders v0.181 AHI1 Eleanor Williams Gene: ahi1 has been classified as Red List (Low Evidence).
Pancreatitis v0.20 CFTR Eleanor Williams Classified gene: CFTR as Amber List (moderate evidence)
Pancreatitis v0.20 CFTR Eleanor Williams Added comment: Comment on list classification: Rating Amber based on feedback from Genomics England clinical team.
Pancreatitis v0.20 CFTR Eleanor Williams Gene: cftr has been classified as Amber List (Moderate Evidence).
Limb disorders v0.180 SPINT2 Rebecca Foulger commented on gene: SPINT2: PMID:19185281 (Heinz-Erian et al., 2009) reviewed data from a large cohort of CSD patients (n = 24).1 Swedish female patient with syndromic CSD had a homozygous SPINT2 allele (c.488A→G, p.Y163C) and presented with an extra digit on her right hand.
Limb disorders v0.180 SPINT2 Rebecca Foulger commented on gene: SPINT2: In 9 children from 7 families with MIM:270420, Salomon et al. (2014, PMID:24142340) identified either homozygosity for the Y163C mutation in SPINT2 or compound heterozygosity for Y163C and another variant in SPINT2. One of the patients (an Italian boy) exhibited additional hexadactyly.
Limb disorders v0.180 SPINT2 Rebecca Foulger Added comment: Comment on phenotypes: Biallelic, loss of function mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea (CSD) which can (rarely) include hexadactyly.
Limb disorders v0.180 SPINT2 Rebecca Foulger Phenotypes for gene: SPINT2 were changed from Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly
Limb disorders v0.179 SPINT2 Rebecca Foulger Phenotypes for gene: SPINT2 were changed from Polydactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly
Limb disorders v0.178 SPINT2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and literature (PMIDs:19185281,24142340).
Limb disorders v0.178 SPINT2 Rebecca Foulger Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.177 SPINT2 Rebecca Foulger Publications for gene: SPINT2 were set to
Limb disorders v0.176 SMO Rebecca Foulger commented on gene: SMO: PMID:27236920 (Twigg et al, 2016) analysed 10 unrelated patients with Curry-Jones syndrome including 6 previously reported patients. They identified somatic mosaicism for the identical L412F variant in SMO in 8 of the patients. The patients all showed cutaneous syndactyly and/or preaxial polydactyly.
Limb disorders v0.176 SMO Rebecca Foulger Phenotypes for gene: SMO were changed from Polydactyly to Polydactyly; Curry-Jones syndrome, somatic mosaic, MIM:601500; Cutaneous syndactyly; Preaxial polydactyly
Limb disorders v0.175 SMO Rebecca Foulger Publications for gene: SMO were set to
Limb disorders v0.174 SMO Rebecca Foulger Added comment: Comment on mode of pathogenicity: Somatic mosaicism.
Limb disorders v0.174 SMO Rebecca Foulger Mode of pathogenicity for gene: SMO was changed from None to Other
Limb disorders v0.173 SMO Rebecca Foulger commented on gene: SMO
Limb disorders v0.173 SMO Rebecca Foulger Tag mosaicism tag was added to gene: SMO.
Intellectual disability v2.506 C3orf58 Louise Daugherty commented on gene: C3orf58
Intellectual disability v2.506 C3orf58 Louise Daugherty Tag new-gene-name tag was added to gene: C3orf58.
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from review
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Mode of inheritance for gene: NARS2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Classified gene: HLCS as Green List (high evidence)
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Added comment: Comment on list classification: changed rating from Red to Green as suggested by external reviewer. . Publications support gene-disease association and rating of this gene to Green.
Early onset or syndromic epilepsy v0.501 HLCS Louise Daugherty Gene: hlcs has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external reviewer comment
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Mode of inheritance for gene: NARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.506 CHKB Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.506 CHKB Louise Daugherty Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, 602541
Early onset or syndromic epilepsy v0.500 NHLRC1 Sarah Leigh Source NIHRBR-RD Consortium SPEED_v3.0_20170404 was removed from NHLRC1.
Source Expert was removed from NHLRC1.
Source Victorian Clinical Genetics Services was removed from NHLRC1.
Source Emory Genetics Laboratory was added to NHLRC1.
Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.500 NHLRC1 Sarah Leigh Source NIHRBR-RD Consortium SPEED_v3.0_20170404 was removed from NHLRC1.
Source Expert was removed from NHLRC1.
Source Victorian Clinical Genetics Services was removed from NHLRC1.
Source Emory Genetics Laboratory was added to NHLRC1.
Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.50 NEK8 Louise Daugherty Added comment: Comment on publications: added Publications suggested by external reviewers to support gene-disease association and rating of this gene to Green.
Rare multisystem ciliopathy disorders v1.50 NEK8 Louise Daugherty Publications for gene: NEK8 were set to 18199800; 23418306
Rare multisystem ciliopathy disorders v1.49 NEK8 Louise Daugherty Classified gene: NEK8 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.49 NEK8 Louise Daugherty Added comment: Comment on list classification: Changed status from Red to Green. Publications suggested by external reviews support gene-disease association and rating of this gene to Green
Rare multisystem ciliopathy disorders v1.49 NEK8 Louise Daugherty Gene: nek8 has been classified as Green List (High Evidence).
Pulmonary arterial hypertension v1.35 SMAD4 Louise Daugherty Phenotypes for gene: SMAD4 were changed from Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050, PAH to Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Pulmonary arterial hypertension v1.34 SMAD4 Louise Daugherty Added comment: Comment on phenotypes: added PAH
Pulmonary arterial hypertension v1.34 SMAD4 Louise Daugherty Phenotypes for gene: SMAD4 were changed from Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050, PAH
Early onset or syndromic epilepsy v0.499 CSTB Sarah Leigh reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28378817, 21757863, 15329070, 9012407; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.499 CSTB Sarah Leigh Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Early onset or syndromic epilepsy v0.499 CCND2 Sarah Leigh Marked gene: CCND2 as ready
Early onset or syndromic epilepsy v0.499 CCND2 Sarah Leigh Added comment: Comment when marking as ready: Phenotype does not include seizures and to this gene is not relevant to the Genetic epilepsy syndromes panel.
Early onset or syndromic epilepsy v0.499 CCND2 Sarah Leigh Gene: ccnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.505 MAPT Louise Daugherty Classified gene: MAPT as Red List (low evidence)
Intellectual disability v2.505 MAPT Louise Daugherty Added comment: Comment on list classification: This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.505 MAPT Louise Daugherty Gene: mapt has been classified as Red List (Low Evidence).
Intellectual disability v2.504 MAPT Louise Daugherty Classified gene: MAPT as Red List (low evidence)
Intellectual disability v2.504 MAPT Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.504 MAPT Louise Daugherty Gene: mapt has been classified as Red List (Low Evidence).
Intellectual disability v2.504 CPA6 Louise Daugherty Classified gene: CPA6 as Red List (low evidence)
Intellectual disability v2.504 CPA6 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.504 CPA6 Louise Daugherty Gene: cpa6 has been classified as Red List (Low Evidence).
Intellectual disability v2.503 CIC Louise Daugherty Classified gene: CIC as Green List (high evidence)
Intellectual disability v2.503 CIC Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.503 CIC Louise Daugherty Gene: cic has been classified as Green List (High Evidence).
Intellectual disability v2.503 CACNA1C Louise Daugherty Classified gene: CACNA1C as Green List (high evidence)
Intellectual disability v2.503 CACNA1C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.503 CACNA1C Louise Daugherty Gene: cacna1c has been classified as Green List (High Evidence).
Intellectual disability v2.502 PET100 Louise Daugherty Classified gene: PET100 as Amber List (moderate evidence)
Intellectual disability v2.502 PET100 Louise Daugherty Gene: pet100 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.501 PET100 Louise Daugherty commented on gene: PET100: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.501 DRD2 Louise Daugherty Classified gene: DRD2 as Red List (low evidence)
Intellectual disability v2.501 DRD2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.501 DRD2 Louise Daugherty Gene: drd2 has been classified as Red List (Low Evidence).
Intellectual disability v2.501 CP Louise Daugherty Classified gene: CP as Red List (low evidence)
Intellectual disability v2.501 CP Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.501 CP Louise Daugherty Gene: cp has been classified as Red List (Low Evidence).
Intellectual disability v2.500 CPA6 Louise Daugherty Classified gene: CPA6 as Red List (low evidence)
Intellectual disability v2.500 CPA6 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.500 CPA6 Louise Daugherty Gene: cpa6 has been classified as Red List (Low Evidence).
Intellectual disability v2.500 DRD2 Louise Daugherty Classified gene: DRD2 as Red List (low evidence)
Intellectual disability v2.500 DRD2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.500 DRD2 Louise Daugherty Gene: drd2 has been classified as Red List (Low Evidence).
Intellectual disability v2.500 MAPT Louise Daugherty Classified gene: MAPT as Red List (low evidence)
Intellectual disability v2.500 MAPT Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.500 MAPT Louise Daugherty Gene: mapt has been classified as Red List (Low Evidence).
Intellectual disability v2.499 PYGL Louise Daugherty Classified gene: PYGL as Red List (low evidence)
Intellectual disability v2.499 PYGL Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.499 PYGL Louise Daugherty Gene: pygl has been classified as Red List (Low Evidence).
Intellectual disability v2.499 RHEB Louise Daugherty Classified gene: RHEB as Red List (low evidence)
Intellectual disability v2.499 RHEB Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically promoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.499 RHEB Louise Daugherty Gene: rheb has been classified as Red List (Low Evidence).
Intellectual disability v2.498 SPAST Louise Daugherty Classified gene: SPAST as Red List (low evidence)
Intellectual disability v2.498 SPAST Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.498 SPAST Louise Daugherty Gene: spast has been classified as Red List (Low Evidence).
Intellectual disability v2.497 TINF2 Louise Daugherty Classified gene: TINF2 as Red List (low evidence)
Intellectual disability v2.497 TINF2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Red. This gene was rated as Red in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.497 TINF2 Louise Daugherty Gene: tinf2 has been classified as Red List (Low Evidence).
Intellectual disability v2.496 ATP1A2 Louise Daugherty Classified gene: ATP1A2 as Amber List (moderate evidence)
Intellectual disability v2.496 ATP1A2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.496 ATP1A2 Louise Daugherty Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.495 ATP1A2 Louise Daugherty Classified gene: ATP1A2 as Amber List (moderate evidence)
Intellectual disability v2.495 ATP1A2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.495 ATP1A2 Louise Daugherty Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.494 D2HGDH Louise Daugherty Classified gene: D2HGDH as Green List (high evidence)
Intellectual disability v2.494 D2HGDH Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.494 D2HGDH Louise Daugherty Gene: d2hgdh has been classified as Green List (High Evidence).
Intellectual disability v2.494 CIC Louise Daugherty Classified gene: CIC as Green List (high evidence)
Intellectual disability v2.494 CIC Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.494 CIC Louise Daugherty Gene: cic has been classified as Green List (High Evidence).
Intellectual disability v2.494 CACNA1C Louise Daugherty Classified gene: CACNA1C as Green List (high evidence)
Intellectual disability v2.494 CACNA1C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.494 CACNA1C Louise Daugherty Gene: cacna1c has been classified as Green List (High Evidence).
Intellectual disability v2.493 TRIP12 Louise Daugherty Classified gene: TRIP12 as Green List (high evidence)
Intellectual disability v2.493 TRIP12 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.493 TRIP12 Louise Daugherty Gene: trip12 has been classified as Green List (High Evidence).
Intellectual disability v2.492 GABRG2 Louise Daugherty Classified gene: GABRG2 as Green List (high evidence)
Intellectual disability v2.492 GABRG2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.492 GABRG2 Louise Daugherty Gene: gabrg2 has been classified as Green List (High Evidence).
Intellectual disability v2.491 THRB Louise Daugherty Classified gene: THRB as Amber List (moderate evidence)
Intellectual disability v2.491 THRB Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.491 THRB Louise Daugherty Gene: thrb has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.491 TBX1 Louise Daugherty Classified gene: TBX1 as Amber List (moderate evidence)
Intellectual disability v2.491 TBX1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.491 TBX1 Louise Daugherty Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.490 PET100 Louise Daugherty Classified gene: PET100 as Amber List (moderate evidence)
Intellectual disability v2.490 PET100 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.490 PET100 Louise Daugherty Gene: pet100 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.490 MED23 Louise Daugherty Classified gene: MED23 as Amber List (moderate evidence)
Intellectual disability v2.490 MED23 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.490 MED23 Louise Daugherty Gene: med23 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.490 KIRREL3 Louise Daugherty Classified gene: KIRREL3 as Amber List (moderate evidence)
Intellectual disability v2.490 KIRREL3 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.490 KIRREL3 Louise Daugherty Gene: kirrel3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.489 GSS Louise Daugherty Classified gene: GSS as Amber List (moderate evidence)
Intellectual disability v2.489 GSS Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been
Intellectual disability v2.489 GSS Louise Daugherty Gene: gss has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.488 FGFR2 Louise Daugherty Classified gene: FGFR2 as Amber List (moderate evidence)
Intellectual disability v2.488 FGFR2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.488 FGFR2 Louise Daugherty Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.487 FBN1 Louise Daugherty Classified gene: FBN1 as Amber List (moderate evidence)
Intellectual disability v2.487 FBN1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.487 FBN1 Louise Daugherty Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.486 C2CD3 Louise Daugherty Classified gene: C2CD3 as Amber List (moderate evidence)
Intellectual disability v2.486 C2CD3 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.486 C2CD3 Louise Daugherty Gene: c2cd3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.486 CRBN Louise Daugherty Classified gene: CRBN as Amber List (moderate evidence)
Intellectual disability v2.486 CRBN Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.486 CRBN Louise Daugherty Gene: crbn has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.485 STAG1 Louise Daugherty Classified gene: STAG1 as Green List (high evidence)
Intellectual disability v2.485 STAG1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.485 STAG1 Louise Daugherty Gene: stag1 has been classified as Green List (High Evidence).
Intellectual disability v2.485 ZBTB18 Louise Daugherty Classified gene: ZBTB18 as Green List (high evidence)
Intellectual disability v2.485 ZBTB18 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.485 ZBTB18 Louise Daugherty Gene: zbtb18 has been classified as Green List (High Evidence).
Intellectual disability v2.484 ZBTB18 Louise Daugherty Classified gene: ZBTB18 as Green List (high evidence)
Intellectual disability v2.484 ZBTB18 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.484 ZBTB18 Louise Daugherty Gene: zbtb18 has been classified as Green List (High Evidence).
Intellectual disability v2.484 WDR81 Louise Daugherty Classified gene: WDR81 as Green List (high evidence)
Intellectual disability v2.484 WDR81 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.484 WDR81 Louise Daugherty Gene: wdr81 has been classified as Green List (High Evidence).
Intellectual disability v2.483 STAG1 Louise Daugherty Classified gene: STAG1 as Green List (high evidence)
Intellectual disability v2.483 STAG1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.483 STAG1 Louise Daugherty Gene: stag1 has been classified as Green List (High Evidence).
Intellectual disability v2.483 KCNJ6 Louise Daugherty Classified gene: KCNJ6 as Green List (high evidence)
Intellectual disability v2.483 KCNJ6 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.483 KCNJ6 Louise Daugherty Gene: kcnj6 has been classified as Green List (High Evidence).
Intellectual disability v2.482 ITPR1 Louise Daugherty Classified gene: ITPR1 as Green List (high evidence)
Intellectual disability v2.482 ITPR1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.482 ITPR1 Louise Daugherty Gene: itpr1 has been classified as Green List (High Evidence).
Intellectual disability v2.482 DHX30 Louise Daugherty Classified gene: DHX30 as Green List (high evidence)
Intellectual disability v2.482 DHX30 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.482 DHX30 Louise Daugherty Gene: dhx30 has been classified as Green List (High Evidence).
Intellectual disability v2.481 DHX30 Louise Daugherty Classified gene: DHX30 as Green List (high evidence)
Intellectual disability v2.481 DHX30 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.481 DHX30 Louise Daugherty Gene: dhx30 has been classified as Green List (High Evidence).
Intellectual disability v2.481 D2HGDH Louise Daugherty Classified gene: D2HGDH as Green List (high evidence)
Intellectual disability v2.481 D2HGDH Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.481 D2HGDH Louise Daugherty Gene: d2hgdh has been classified as Green List (High Evidence).
Intellectual disability v2.480 CIC Louise Daugherty Classified gene: CIC as Green List (high evidence)
Intellectual disability v2.480 CIC Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.480 CIC Louise Daugherty Gene: cic has been classified as Green List (High Evidence).
Intellectual disability v2.480 CACNA1C Louise Daugherty Classified gene: CACNA1C as Green List (high evidence)
Intellectual disability v2.480 CACNA1C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.480 CACNA1C Louise Daugherty Gene: cacna1c has been classified as Green List (High Evidence).
Intellectual disability v2.479 BCS1L Louise Daugherty Classified gene: BCS1L as Green List (high evidence)
Intellectual disability v2.479 BCS1L Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.479 BCS1L Louise Daugherty Gene: bcs1l has been classified as Green List (High Evidence).
Intellectual disability v2.479 AHI1 Louise Daugherty Classified gene: AHI1 as Green List (high evidence)
Intellectual disability v2.479 AHI1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.479 AHI1 Louise Daugherty Gene: ahi1 has been classified as Green List (High Evidence).
Intellectual disability v2.478 ACTL6A Louise Daugherty Classified gene: ACTL6A as Green List (high evidence)
Intellectual disability v2.478 ACTL6A Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.478 ACTL6A Louise Daugherty Gene: actl6a has been classified as Green List (High Evidence).
Intellectual disability v2.477 TTC37 Louise Daugherty Classified gene: TTC37 as Green List (high evidence)
Intellectual disability v2.477 TTC37 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.477 TTC37 Louise Daugherty Gene: ttc37 has been classified as Green List (High Evidence).
Intellectual disability v2.476 TRIP12 Louise Daugherty Classified gene: TRIP12 as Green List (high evidence)
Intellectual disability v2.476 TRIP12 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.476 TRIP12 Louise Daugherty Gene: trip12 has been classified as Green List (High Evidence).
Intellectual disability v2.476 TBCK Louise Daugherty Classified gene: TBCK as Green List (high evidence)
Intellectual disability v2.476 TBCK Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.476 TBCK Louise Daugherty Gene: tbck has been classified as Green List (High Evidence).
Intellectual disability v2.475 SIN3A Louise Daugherty Classified gene: SIN3A as Green List (high evidence)
Intellectual disability v2.475 SIN3A Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.475 SIN3A Louise Daugherty Gene: sin3a has been classified as Green List (High Evidence).
Intellectual disability v2.474 RERE Louise Daugherty Classified gene: RERE as Green List (high evidence)
Intellectual disability v2.474 RERE Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.474 RERE Louise Daugherty Gene: rere has been classified as Green List (High Evidence).
Intellectual disability v2.474 PRMT7 Louise Daugherty Classified gene: PRMT7 as Green List (high evidence)
Intellectual disability v2.474 PRMT7 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.474 PRMT7 Louise Daugherty Gene: prmt7 has been classified as Green List (High Evidence).
Intellectual disability v2.473 PIK3CA Louise Daugherty Classified gene: PIK3CA as Green List (high evidence)
Intellectual disability v2.473 PIK3CA Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.473 PIK3CA Louise Daugherty Gene: pik3ca has been classified as Green List (High Evidence).
Intellectual disability v2.472 PDHX Louise Daugherty Classified gene: PDHX as Green List (high evidence)
Intellectual disability v2.472 PDHX Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.472 PDHX Louise Daugherty Gene: pdhx has been classified as Green List (High Evidence).
Intellectual disability v2.471 DIS3L2 Louise Daugherty Classified gene: DIS3L2 as Green List (high evidence)
Intellectual disability v2.471 DIS3L2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.471 DIS3L2 Louise Daugherty Gene: dis3l2 has been classified as Green List (High Evidence).
Intellectual disability v2.470 GABRG2 Louise Daugherty Classified gene: GABRG2 as Green List (high evidence)
Intellectual disability v2.470 GABRG2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.470 GABRG2 Louise Daugherty Gene: gabrg2 has been classified as Green List (High Evidence).
Intellectual disability v2.470 DIS3L2 Louise Daugherty Classified gene: DIS3L2 as Green List (high evidence)
Intellectual disability v2.470 DIS3L2 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.470 DIS3L2 Louise Daugherty Gene: dis3l2 has been classified as Green List (High Evidence).
Intellectual disability v2.469 CCDC88C Louise Daugherty Classified gene: CCDC88C as Green List (high evidence)
Intellectual disability v2.469 CCDC88C Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.469 CCDC88C Louise Daugherty Gene: ccdc88c has been classified as Green List (High Evidence).
Intellectual disability v2.469 AMER1 Louise Daugherty Classified gene: AMER1 as Green List (high evidence)
Intellectual disability v2.469 AMER1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Intellectual disability v2.469 AMER1 Louise Daugherty Gene: amer1 has been classified as Green List (High Evidence).
Primary lymphoedema v1.30 DCHS1 Rebecca Foulger Tag watchlist tag was added to gene: DCHS1.
Primary lymphoedema v1.30 DCHS1 Rebecca Foulger Classified gene: DCHS1 as Amber List (moderate evidence)
Primary lymphoedema v1.30 DCHS1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber as agreed with Helen Brittain and Anna De Burca: Insufficient evidence for diagnostic grade but features on St. George's Primary Lymphedema Disorders gene panel. Note that Prof. Sahar Mansour (St. George's hospital) confirmed via email thread that they have not seen cases.
Primary lymphoedema v1.30 DCHS1 Rebecca Foulger Gene: dchs1 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Tag watchlist tag was added to gene: ADAMTS3.
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Classified gene: ADAMTS3 as Amber List (moderate evidence)
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber as agreed with Helen Brittain and Anna De Burca: Insufficient evidence for diagnostic grade but features on St. George's Primary Lymphedema Disorders gene panel. Note that Prof. Sahar Mansour (St. George's hospital) confirmed via email thread that they have not seen cases.
Primary lymphoedema v1.29 ADAMTS3 Rebecca Foulger Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.468 ZNF81 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF81.
Intellectual disability v2.468 ZNF711 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF711.
Intellectual disability v2.468 ZNF674 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF674.
Intellectual disability v2.468 ZNF41 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZNF41.
Intellectual disability v2.468 ZMYND11 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZMYND11.
Intellectual disability v2.468 ZIC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZIC2.
Intellectual disability v2.468 ZFYVE26 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZFYVE26.
Intellectual disability v2.468 ZFP57 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZFP57.
Intellectual disability v2.468 ZEB2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZEB2.
Intellectual disability v2.468 ZDHHC9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZDHHC9.
Intellectual disability v2.468 ZBTB24 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB24.
Intellectual disability v2.468 ZBTB20 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB20.
Intellectual disability v2.468 ZBTB18 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB18.
Intellectual disability v2.468 ZBTB16 Louise Daugherty Source Victorian Clinical Genetics Services was added to ZBTB16.
Intellectual disability v2.468 YY1 Louise Daugherty Source Victorian Clinical Genetics Services was added to YY1.
Intellectual disability v2.468 YAP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to YAP1.
Intellectual disability v2.468 XPNPEP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to XPNPEP3.
Intellectual disability v2.468 XIST Louise Daugherty gene: XIST was added
gene: XIST was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: XIST was set to
Intellectual disability v2.468 WWOX Louise Daugherty Source Victorian Clinical Genetics Services was added to WWOX.
Intellectual disability v2.468 WRN Louise Daugherty gene: WRN was added
gene: WRN was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to
Intellectual disability v2.468 WFS1 Louise Daugherty gene: WFS1 was added
gene: WFS1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: WFS1 was set to
Intellectual disability v2.468 WDR81 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR81.
Intellectual disability v2.468 WDR73 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR73.
Intellectual disability v2.468 WDR62 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR62.
Intellectual disability v2.468 WDR45B Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR45B.
Intellectual disability v2.468 WDR26 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDR26.
Intellectual disability v2.468 WDFY3 Louise Daugherty Source Victorian Clinical Genetics Services was added to WDFY3.
Intellectual disability v2.468 WAC Louise Daugherty Source Victorian Clinical Genetics Services was added to WAC.
Intellectual disability v2.468 VPS53 Louise Daugherty Source Victorian Clinical Genetics Services was added to VPS53.
Intellectual disability v2.468 VPS13B Louise Daugherty Source Victorian Clinical Genetics Services was added to VPS13B.
Intellectual disability v2.468 VLDLR Louise Daugherty Source Victorian Clinical Genetics Services was added to VLDLR.
Intellectual disability v2.468 USP9X Louise Daugherty Source Victorian Clinical Genetics Services was added to USP9X.
Intellectual disability v2.468 USP7 Louise Daugherty gene: USP7 was added
gene: USP7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: USP7 was set to
Intellectual disability v2.468 USP18 Louise Daugherty gene: USP18 was added
gene: USP18 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: USP18 was set to
Intellectual disability v2.468 UROC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to UROC1.
Intellectual disability v2.468 UPF3B Louise Daugherty Source Victorian Clinical Genetics Services was added to UPF3B.
Intellectual disability v2.468 UPB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to UPB1.
Intellectual disability v2.468 UNC80 Louise Daugherty Source Victorian Clinical Genetics Services was added to UNC80.
Intellectual disability v2.468 UNC13A Louise Daugherty Source Victorian Clinical Genetics Services was added to UNC13A.
Intellectual disability v2.468 UBTF Louise Daugherty Source Victorian Clinical Genetics Services was added to UBTF.
Intellectual disability v2.468 UBR4 Louise Daugherty gene: UBR4 was added
gene: UBR4 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: UBR4 was set to
Intellectual disability v2.468 UBE3A Louise Daugherty Source Victorian Clinical Genetics Services was added to UBE3A.
Intellectual disability v2.468 UBE2A Louise Daugherty Source Victorian Clinical Genetics Services was added to UBE2A.
Intellectual disability v2.468 UBA5 Louise Daugherty Source Victorian Clinical Genetics Services was added to UBA5.
Intellectual disability v2.468 TXNL4A Louise Daugherty Source Victorian Clinical Genetics Services was added to TXNL4A.
Intellectual disability v2.468 TWIST1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TWIST1.
Intellectual disability v2.468 TUSC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to TUSC3.
Intellectual disability v2.468 TUBB3 Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBB3.
Intellectual disability v2.468 TUBB2B Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBB2B.
Intellectual disability v2.468 TUBB2A Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBB2A.
Intellectual disability v2.468 TUBA8 Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBA8.
Intellectual disability v2.468 TUBA1A Louise Daugherty Source Victorian Clinical Genetics Services was added to TUBA1A.
Intellectual disability v2.468 TTR Louise Daugherty gene: TTR was added
gene: TTR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TTR was set to
Intellectual disability v2.468 TTC37 Louise Daugherty Source Victorian Clinical Genetics Services was added to TTC37.
Intellectual disability v2.468 TSPAN7 Louise Daugherty Source Victorian Clinical Genetics Services was added to TSPAN7.
Intellectual disability v2.468 TSHR Louise Daugherty Source Victorian Clinical Genetics Services was added to TSHR.
Intellectual disability v2.468 TSC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TSC2.
Intellectual disability v2.468 TSC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TSC1.
Intellectual disability v2.468 TRMT10A Louise Daugherty Source Victorian Clinical Genetics Services was added to TRMT10A.
Intellectual disability v2.468 TRIT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIT1.
Intellectual disability v2.468 TRIP13 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIP13.
Intellectual disability v2.468 TRIP12 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIP12.
Intellectual disability v2.468 TRIO Louise Daugherty Source Victorian Clinical Genetics Services was added to TRIO.
Intellectual disability v2.468 TRHR Louise Daugherty gene: TRHR was added
gene: TRHR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TRHR was set to
Intellectual disability v2.468 TRAPPC9 Louise Daugherty Source Victorian Clinical Genetics Services was added to TRAPPC9.
Intellectual disability v2.468 TRAPPC6B Louise Daugherty Source Victorian Clinical Genetics Services was added to TRAPPC6B.
Intellectual disability v2.468 TRAPPC12 Louise Daugherty gene: TRAPPC12 was added
gene: TRAPPC12 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC12 was set to
Intellectual disability v2.468 TRAK1 Louise Daugherty gene: TRAK1 was added
gene: TRAK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAK1 was set to
Intellectual disability v2.468 TPK1 Louise Daugherty gene: TPK1 was added
gene: TPK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TPK1 was set to
Intellectual disability v2.468 TPH2 Louise Daugherty gene: TPH2 was added
gene: TPH2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TPH2 was set to
Intellectual disability v2.468 TNRC6B Louise Daugherty gene: TNRC6B was added
gene: TNRC6B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TNRC6B was set to
Intellectual disability v2.468 TNIK Louise Daugherty Source Victorian Clinical Genetics Services was added to TNIK.
Intellectual disability v2.468 TMLHE Louise Daugherty Source Victorian Clinical Genetics Services was added to TMLHE.
Intellectual disability v2.468 TMEM70 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM70.
Intellectual disability v2.468 TMEM67 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM67.
Intellectual disability v2.468 TMEM260 Louise Daugherty gene: TMEM260 was added
gene: TMEM260 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM260 was set to
Intellectual disability v2.468 TMEM216 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM216.
Intellectual disability v2.468 TMEM165 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMEM165.
Intellectual disability v2.468 TMCO1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TMCO1.
Intellectual disability v2.468 TLK2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TLK2.
Intellectual disability v2.468 TINF2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TINF2.
Intellectual disability v2.468 THRB Louise Daugherty Source Victorian Clinical Genetics Services was added to THRB.
Intellectual disability v2.468 THOC6 Louise Daugherty Source Victorian Clinical Genetics Services was added to THOC6.
Intellectual disability v2.468 TH Louise Daugherty Source Victorian Clinical Genetics Services was added to TH.
Intellectual disability v2.468 TGIF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TGIF1.
Intellectual disability v2.468 TGDS Louise Daugherty Source Victorian Clinical Genetics Services was added to TGDS.
Intellectual disability v2.468 TFE3 Louise Daugherty gene: TFE3 was added
gene: TFE3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TFE3 was set to
Intellectual disability v2.468 TECR Louise Daugherty Source Victorian Clinical Genetics Services was added to TECR.
Intellectual disability v2.468 TCF4 Louise Daugherty Source Victorian Clinical Genetics Services was added to TCF4.
Intellectual disability v2.468 TCF20 Louise Daugherty Source Victorian Clinical Genetics Services was added to TCF20.
Intellectual disability v2.468 TBX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBX1.
Intellectual disability v2.468 TBR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBR1.
Intellectual disability v2.468 TBL1XR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBL1XR1.
Intellectual disability v2.468 TBCK Louise Daugherty Source Victorian Clinical Genetics Services was added to TBCK.
Intellectual disability v2.468 TBCE Louise Daugherty Source Victorian Clinical Genetics Services was added to TBCE.
Intellectual disability v2.468 TBCD Louise Daugherty Source Victorian Clinical Genetics Services was added to TBCD.
Intellectual disability v2.468 TBC1D24 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBC1D24.
Intellectual disability v2.468 TBC1D23 Louise Daugherty Source Victorian Clinical Genetics Services was added to TBC1D23.
Intellectual disability v2.468 TAOK1 Louise Daugherty gene: TAOK1 was added
gene: TAOK1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TAOK1 was set to
Intellectual disability v2.468 TAF6 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF6.
Intellectual disability v2.468 TAF2 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF2.
Intellectual disability v2.468 TAF13 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF13.
Intellectual disability v2.468 TAF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to TAF1.
Intellectual disability v2.468 SYT14 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYT14.
Intellectual disability v2.468 SYP Louise Daugherty Source Victorian Clinical Genetics Services was added to SYP.
Intellectual disability v2.468 SYNGAP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYNGAP1.
Intellectual disability v2.468 SYNE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYNE1.
Intellectual disability v2.468 SYN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SYN1.
Intellectual disability v2.468 SUCLG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SUCLG1.
Intellectual disability v2.468 STXBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to STXBP1.
Intellectual disability v2.468 STX1B Louise Daugherty Source Victorian Clinical Genetics Services was added to STX1B.
Intellectual disability v2.468 STX11 Louise Daugherty gene: STX11 was added
gene: STX11 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: STX11 was set to
Intellectual disability v2.468 STRA6 Louise Daugherty Source Victorian Clinical Genetics Services was added to STRA6.
Intellectual disability v2.468 STIL Louise Daugherty Source Victorian Clinical Genetics Services was added to STIL.
Intellectual disability v2.468 STAT5B Louise Daugherty gene: STAT5B was added
gene: STAT5B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT5B was set to
Intellectual disability v2.468 STAG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to STAG1.
Intellectual disability v2.468 ST3GAL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ST3GAL3.
Intellectual disability v2.468 SSR4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SSR4.
Intellectual disability v2.468 SRPX2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SRPX2.
Intellectual disability v2.468 SRD5A3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SRD5A3.
Intellectual disability v2.468 SRCAP Louise Daugherty Source Victorian Clinical Genetics Services was added to SRCAP.
Intellectual disability v2.468 SPTLC1 Louise Daugherty gene: SPTLC1 was added
gene: SPTLC1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SPTLC1 was set to
Intellectual disability v2.468 SPTAN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SPTAN1.
Intellectual disability v2.468 SPRTN Louise Daugherty gene: SPRTN was added
gene: SPRTN was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SPRTN was set to
Intellectual disability v2.468 SPR Louise Daugherty Source Victorian Clinical Genetics Services was added to SPR.
Intellectual disability v2.468 SPECC1L Louise Daugherty Source Victorian Clinical Genetics Services was added to SPECC1L.
Intellectual disability v2.468 SPAST Louise Daugherty Source Victorian Clinical Genetics Services was added to SPAST.
Intellectual disability v2.468 SOX5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX5.
Intellectual disability v2.468 SOX3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX3.
Intellectual disability v2.468 SOX2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX2.
Intellectual disability v2.468 SOX10 Louise Daugherty Source Victorian Clinical Genetics Services was added to SOX10.
Intellectual disability v2.468 SON Louise Daugherty Source Victorian Clinical Genetics Services was added to SON.
Intellectual disability v2.468 SOBP Louise Daugherty Source Victorian Clinical Genetics Services was added to SOBP.
Intellectual disability v2.468 SNX14 Louise Daugherty Source Victorian Clinical Genetics Services was added to SNX14.
Intellectual disability v2.468 SNORD118 Louise Daugherty Source Victorian Clinical Genetics Services was added to SNORD118.
Intellectual disability v2.468 SNIP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SNIP1.
Intellectual disability v2.468 SMS Louise Daugherty Source Victorian Clinical Genetics Services was added to SMS.
Intellectual disability v2.468 SMC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMC3.
Intellectual disability v2.468 SMC1A Louise Daugherty Source Victorian Clinical Genetics Services was added to SMC1A.
Intellectual disability v2.468 SMARCE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCE1.
Intellectual disability v2.468 SMARCB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCB1.
Intellectual disability v2.468 SMARCA4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCA4.
Intellectual disability v2.468 SMARCA2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SMARCA2.
Intellectual disability v2.468 SLX4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLX4.
Intellectual disability v2.468 SLC9A9 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC9A9.
Intellectual disability v2.468 SLC9A6 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC9A6.
Intellectual disability v2.468 SLC7A7 Louise Daugherty gene: SLC7A7 was added
gene: SLC7A7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC7A7 was set to
Intellectual disability v2.468 SLC6A8 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A8.
Intellectual disability v2.468 SLC6A4 Louise Daugherty gene: SLC6A4 was added
gene: SLC6A4 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A4 was set to
Intellectual disability v2.468 SLC6A17 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A17.
Intellectual disability v2.468 SLC6A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC6A1.
Intellectual disability v2.468 SLC5A5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC5A5.
Intellectual disability v2.468 SLC5A2 Louise Daugherty gene: SLC5A2 was added
gene: SLC5A2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC5A2 was set to
Intellectual disability v2.468 SLC4A4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC4A4.
Intellectual disability v2.468 SLC46A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC46A1.
Intellectual disability v2.468 SLC45A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC45A1.
Intellectual disability v2.468 SLC39A14 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC39A14.
Intellectual disability v2.468 SLC35C1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC35C1.
Intellectual disability v2.468 SLC35A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC35A1.
Intellectual disability v2.468 SLC2A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC2A2.
Intellectual disability v2.468 SLC2A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC2A1.
Intellectual disability v2.468 SLC25A24 Louise Daugherty gene: SLC25A24 was added
gene: SLC25A24 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A24 was set to
Intellectual disability v2.468 SLC25A15 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC25A15.
Intellectual disability v2.468 SLC25A13 Louise Daugherty gene: SLC25A13 was added
gene: SLC25A13 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A13 was set to
Intellectual disability v2.468 SLC25A12 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC25A12.
Intellectual disability v2.468 SLC20A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC20A2.
Intellectual disability v2.468 SLC16A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC16A2.
Intellectual disability v2.468 SLC13A5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC13A5.
Intellectual disability v2.468 SLC12A6 Louise Daugherty Source Victorian Clinical Genetics Services was added to SLC12A6.
Intellectual disability v2.468 SIN3A Louise Daugherty Source Victorian Clinical Genetics Services was added to SIN3A.
Intellectual disability v2.468 SIL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SIL1.
Intellectual disability v2.468 SHROOM4 Louise Daugherty Source Victorian Clinical Genetics Services was added to SHROOM4.
Intellectual disability v2.468 SHANK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to SHANK3.
Intellectual disability v2.468 SHANK2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SHANK2.
Intellectual disability v2.468 SGSH Louise Daugherty Source Victorian Clinical Genetics Services was added to SGSH.
Intellectual disability v2.468 SGCA Louise Daugherty gene: SGCA was added
gene: SGCA was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SGCA was set to
Intellectual disability v2.468 SETD5 Louise Daugherty Source Victorian Clinical Genetics Services was added to SETD5.
Intellectual disability v2.468 SETD2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SETD2.
Intellectual disability v2.468 SETD1B Louise Daugherty Source Victorian Clinical Genetics Services was added to SETD1B.
Intellectual disability v2.468 SETBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SETBP1.
Intellectual disability v2.468 SET Louise Daugherty Source Victorian Clinical Genetics Services was added to SET.
Intellectual disability v2.468 SELENOI Louise Daugherty gene: SELENOI was added
gene: SELENOI was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: SELENOI was set to
Intellectual disability v2.468 SDCCAG8 Louise Daugherty Source Victorian Clinical Genetics Services was added to SDCCAG8.
Intellectual disability v2.468 SCN9A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN9A.
Intellectual disability v2.468 SCN8A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN8A.
Intellectual disability v2.468 SCN3A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN3A.
Intellectual disability v2.468 SCN2A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN2A.
Intellectual disability v2.468 SCN1A Louise Daugherty Source Victorian Clinical Genetics Services was added to SCN1A.
Intellectual disability v2.468 SATB2 Louise Daugherty Source Victorian Clinical Genetics Services was added to SATB2.
Intellectual disability v2.468 SAMHD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to SAMHD1.
Intellectual disability v2.468 SACS Louise Daugherty Source Victorian Clinical Genetics Services was added to SACS.
Intellectual disability v2.468 RTTN Louise Daugherty Source Victorian Clinical Genetics Services was added to RTTN.
Intellectual disability v2.468 RPS6KA3 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPS6KA3.
Intellectual disability v2.468 RPS23 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPS23.
Intellectual disability v2.468 RPL10 Louise Daugherty Source Victorian Clinical Genetics Services was added to RPL10.
Intellectual disability v2.468 RPGRIP1L Louise Daugherty Source Victorian Clinical Genetics Services was added to RPGRIP1L.
Intellectual disability v2.468 RNF135 Louise Daugherty Source Victorian Clinical Genetics Services was added to RNF135.
Intellectual disability v2.468 RNF125 Louise Daugherty Source Victorian Clinical Genetics Services was added to RNF125.
Intellectual disability v2.468 RIMS1 Louise Daugherty gene: RIMS1 was added
gene: RIMS1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: RIMS1 was set to
Intellectual disability v2.468 RHEB Louise Daugherty Source Victorian Clinical Genetics Services was added to RHEB.
Intellectual disability v2.468 RFX6 Louise Daugherty Source Victorian Clinical Genetics Services was added to RFX6.
Intellectual disability v2.468 RFT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to RFT1.
Intellectual disability v2.468 RERE Louise Daugherty Source Victorian Clinical Genetics Services was added to RERE.
Intellectual disability v2.468 RELN Louise Daugherty Source Victorian Clinical Genetics Services was added to RELN.
Intellectual disability v2.468 RBM10 Louise Daugherty Source Victorian Clinical Genetics Services was added to RBM10.
Intellectual disability v2.468 RBFOX1 Louise Daugherty gene: RBFOX1 was added
gene: RBFOX1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: RBFOX1 was set to
Intellectual disability v2.468 RBBP8 Louise Daugherty Source Victorian Clinical Genetics Services was added to RBBP8.
Intellectual disability v2.468 RARB Louise Daugherty Source Victorian Clinical Genetics Services was added to RARB.
Intellectual disability v2.468 RAPSN Louise Daugherty Source Victorian Clinical Genetics Services was added to RAPSN.
Intellectual disability v2.468 RANBP17 Louise Daugherty gene: RANBP17 was added
gene: RANBP17 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: RANBP17 was set to
Intellectual disability v2.468 RAI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to RAI1.
Intellectual disability v2.468 RAD21 Louise Daugherty Source Victorian Clinical Genetics Services was added to RAD21.
Intellectual disability v2.468 RAC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to RAC1.
Intellectual disability v2.468 RAB40AL Louise Daugherty Source Victorian Clinical Genetics Services was added to RAB40AL.
Intellectual disability v2.468 RAB39B Louise Daugherty Source Victorian Clinical Genetics Services was added to RAB39B.
Intellectual disability v2.468 RAB11B Louise Daugherty Source Victorian Clinical Genetics Services was added to RAB11B.
Intellectual disability v2.468 QRICH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to QRICH1.
Intellectual disability v2.468 QARS Louise Daugherty Source Victorian Clinical Genetics Services was added to QARS.
Intellectual disability v2.468 PYGL Louise Daugherty Source Victorian Clinical Genetics Services was added to PYGL.
Intellectual disability v2.468 PYCR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PYCR1.
Intellectual disability v2.468 PURA Louise Daugherty Source Victorian Clinical Genetics Services was added to PURA.
Intellectual disability v2.468 PUF60 Louise Daugherty Source Victorian Clinical Genetics Services was added to PUF60.
Intellectual disability v2.468 PTPN23 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTPN23.
Intellectual disability v2.468 PTPN11 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTPN11.
Intellectual disability v2.468 PTEN Louise Daugherty Source Victorian Clinical Genetics Services was added to PTEN.
Intellectual disability v2.468 PTDSS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTDSS1.
Intellectual disability v2.468 PTCHD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTCHD1.
Intellectual disability v2.468 PTCH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PTCH1.
Intellectual disability v2.468 PSPH Louise Daugherty Source Victorian Clinical Genetics Services was added to PSPH.
Intellectual disability v2.468 PSMD12 Louise Daugherty Source Victorian Clinical Genetics Services was added to PSMD12.
Intellectual disability v2.468 PSAT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PSAT1.
Intellectual disability v2.468 PRSS12 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRSS12.
Intellectual disability v2.468 PRPS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRPS1.
Intellectual disability v2.468 PRODH Louise Daugherty Source Victorian Clinical Genetics Services was added to PRODH.
Intellectual disability v2.468 PRMT7 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRMT7.
Intellectual disability v2.468 PRKD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRKD1.
Intellectual disability v2.468 PRKAR1A Louise Daugherty Source Victorian Clinical Genetics Services was added to PRKAR1A.
Intellectual disability v2.468 PRICKLE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRICKLE1.
Intellectual disability v2.468 PREPL Louise Daugherty Source Victorian Clinical Genetics Services was added to PREPL.
Intellectual disability v2.468 PQBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PQBP1.
Intellectual disability v2.468 PPP3CA Louise Daugherty Source Victorian Clinical Genetics Services was added to PPP3CA.
Intellectual disability v2.468 PPP2R5D Louise Daugherty Source Victorian Clinical Genetics Services was added to PPP2R5D.
Intellectual disability v2.468 PPP1R1B Louise Daugherty gene: PPP1R1B was added
gene: PPP1R1B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP1R1B was set to
Intellectual disability v2.468 PPP1R15B Louise Daugherty Source Victorian Clinical Genetics Services was added to PPP1R15B.
Intellectual disability v2.468 PPOX Louise Daugherty Source Victorian Clinical Genetics Services was added to PPOX.
Intellectual disability v2.468 PPM1D Louise Daugherty Source Victorian Clinical Genetics Services was added to PPM1D.
Intellectual disability v2.468 POU1F1 Louise Daugherty Source Victorian Clinical Genetics Services was added to POU1F1.
Intellectual disability v2.468 PORCN Louise Daugherty Source Victorian Clinical Genetics Services was added to PORCN.
Intellectual disability v2.468 POMT2 Louise Daugherty Source Victorian Clinical Genetics Services was added to POMT2.
Intellectual disability v2.468 POMT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to POMT1.
Intellectual disability v2.468 POMGNT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to POMGNT1.
Intellectual disability v2.468 POGZ Louise Daugherty Source Victorian Clinical Genetics Services was added to POGZ.
Intellectual disability v2.468 POGLUT1 Louise Daugherty gene: POGLUT1 was added
gene: POGLUT1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: POGLUT1 was set to
Intellectual disability v2.468 PNPLA6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PNPLA6.
Intellectual disability v2.468 PNKP Louise Daugherty Source Victorian Clinical Genetics Services was added to PNKP.
Intellectual disability v2.468 PMM2 Louise Daugherty Source Victorian Clinical Genetics Services was added to PMM2.
Intellectual disability v2.468 PLP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PLP1.
Intellectual disability v2.468 PLK4 Louise Daugherty Source Victorian Clinical Genetics Services was added to PLK4.
Intellectual disability v2.468 PLAA Louise Daugherty Source Victorian Clinical Genetics Services was added to PLAA.
Intellectual disability v2.468 PLA2G6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PLA2G6.
Intellectual disability v2.468 PIK3R2 Louise Daugherty Source Victorian Clinical Genetics Services was added to PIK3R2.
Intellectual disability v2.468 PIK3CA Louise Daugherty Source Victorian Clinical Genetics Services was added to PIK3CA.
Intellectual disability v2.468 PIGY Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGY.
Intellectual disability v2.468 PIGW Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGW.
Intellectual disability v2.468 PIGV Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGV.
Intellectual disability v2.468 PIGO Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGO.
Intellectual disability v2.468 PIGN Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGN.
Intellectual disability v2.468 PIGL Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGL.
Intellectual disability v2.468 PIGC Louise Daugherty Source Victorian Clinical Genetics Services was added to PIGC.
Intellectual disability v2.468 PIEZO2 Louise Daugherty Source Victorian Clinical Genetics Services was added to PIEZO2.
Intellectual disability v2.468 PHKG2 Louise Daugherty gene: PHKG2 was added
gene: PHKG2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PHKG2 was set to
Intellectual disability v2.468 PHKA2 Louise Daugherty gene: PHKA2 was added
gene: PHKA2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PHKA2 was set to
Intellectual disability v2.468 PHF8 Louise Daugherty Source Victorian Clinical Genetics Services was added to PHF8.
Intellectual disability v2.468 PHF6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PHF6.
Intellectual disability v2.468 PGM3 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGM3.
Intellectual disability v2.468 PGM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGM1.
Intellectual disability v2.468 PGK1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGK1.
Intellectual disability v2.468 PGAP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to PGAP3.
Intellectual disability v2.468 PEX7 Louise Daugherty Source Victorian Clinical Genetics Services was added to PEX7.
Intellectual disability v2.468 PET100 Louise Daugherty Source Victorian Clinical Genetics Services was added to PET100.
Intellectual disability v2.468 PDSS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PDSS1.
Intellectual disability v2.468 PDHX Louise Daugherty Source Victorian Clinical Genetics Services was added to PDHX.
Intellectual disability v2.468 PDGFRB Louise Daugherty Source Victorian Clinical Genetics Services was added to PDGFRB.
Intellectual disability v2.468 PDE4D Louise Daugherty Source Victorian Clinical Genetics Services was added to PDE4D.
Intellectual disability v2.468 PCNT Louise Daugherty Source Victorian Clinical Genetics Services was added to PCNT.
Intellectual disability v2.468 PCLO Louise Daugherty Source Victorian Clinical Genetics Services was added to PCLO.
Intellectual disability v2.468 PCDH19 Louise Daugherty Source Victorian Clinical Genetics Services was added to PCDH19.
Intellectual disability v2.468 PCDH10 Louise Daugherty Source Victorian Clinical Genetics Services was added to PCDH10.
Intellectual disability v2.468 PCCB Louise Daugherty Source Victorian Clinical Genetics Services was added to PCCB.
Intellectual disability v2.468 PCCA Louise Daugherty Source Victorian Clinical Genetics Services was added to PCCA.
Intellectual disability v2.468 PBX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PBX1.
Intellectual disability v2.468 PAX7 Louise Daugherty gene: PAX7 was added
gene: PAX7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX7 was set to
Intellectual disability v2.468 PAX6 Louise Daugherty Source Victorian Clinical Genetics Services was added to PAX6.
Intellectual disability v2.468 PAK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to PAK3.
Intellectual disability v2.468 PAH Louise Daugherty Source Victorian Clinical Genetics Services was added to PAH.
Intellectual disability v2.468 PAFAH1B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PAFAH1B1.
Intellectual disability v2.468 PACS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PACS1.
Intellectual disability v2.468 P4HB Louise Daugherty Source Victorian Clinical Genetics Services was added to P4HB.
Intellectual disability v2.468 OTUD6B Louise Daugherty Source Victorian Clinical Genetics Services was added to OTUD6B.
Intellectual disability v2.468 ORC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ORC1.
Intellectual disability v2.468 OPHN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to OPHN1.
Intellectual disability v2.468 OFD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to OFD1.
Intellectual disability v2.468 OCRL Louise Daugherty Source Victorian Clinical Genetics Services was added to OCRL.
Intellectual disability v2.468 NUP188 Louise Daugherty gene: NUP188 was added
gene: NUP188 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NUP188 was set to
Intellectual disability v2.468 NTNG1 Louise Daugherty gene: NTNG1 was added
gene: NTNG1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NTNG1 was set to
Intellectual disability v2.468 NSUN2 Louise Daugherty Source Victorian Clinical Genetics Services was added to NSUN2.
Intellectual disability v2.468 NSDHL Louise Daugherty Source Victorian Clinical Genetics Services was added to NSDHL.
Intellectual disability v2.468 NSD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NSD1.
Intellectual disability v2.468 NRXN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NRXN1.
Intellectual disability v2.468 NR2F1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NR2F1.
Intellectual disability v2.468 NPR3 Louise Daugherty gene: NPR3 was added
gene: NPR3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NPR3 was set to
Intellectual disability v2.468 NPHP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to NPHP3.
Intellectual disability v2.468 NPC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to NPC2.
Intellectual disability v2.468 NPC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NPC1.
Intellectual disability v2.468 NONO Louise Daugherty Source Victorian Clinical Genetics Services was added to NONO.
Intellectual disability v2.468 NLGN4X Louise Daugherty Source Victorian Clinical Genetics Services was added to NLGN4X.
Intellectual disability v2.468 NLGN3 Louise Daugherty Source Victorian Clinical Genetics Services was added to NLGN3.
Intellectual disability v2.468 NIPBL Louise Daugherty Source Victorian Clinical Genetics Services was added to NIPBL.
Intellectual disability v2.468 NHS Louise Daugherty Source Victorian Clinical Genetics Services was added to NHS.
Intellectual disability v2.468 NHP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to NHP2.
Intellectual disability v2.468 NHEJ1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NHEJ1.
Intellectual disability v2.468 NGF Louise Daugherty gene: NGF was added
gene: NGF was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NGF was set to
Intellectual disability v2.468 NFIX Louise Daugherty Source Victorian Clinical Genetics Services was added to NFIX.
Intellectual disability v2.468 NF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NF1.
Intellectual disability v2.468 NEXMIF Louise Daugherty Source Victorian Clinical Genetics Services was added to NEXMIF.
Intellectual disability v2.468 NDUFS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NDUFS1.
Intellectual disability v2.468 NDUFAF5 Louise Daugherty Source Victorian Clinical Genetics Services was added to NDUFAF5.
Intellectual disability v2.468 NDUFA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NDUFA1.
Intellectual disability v2.468 NDP Louise Daugherty Source Victorian Clinical Genetics Services was added to NDP.
Intellectual disability v2.468 NCKAP1 Louise Daugherty gene: NCKAP1 was added
gene: NCKAP1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: NCKAP1 was set to
Intellectual disability v2.468 NBN Louise Daugherty Source Victorian Clinical Genetics Services was added to NBN.
Intellectual disability v2.468 NALCN Louise Daugherty Source Victorian Clinical Genetics Services was added to NALCN.
Intellectual disability v2.468 NAGA Louise Daugherty Source Victorian Clinical Genetics Services was added to NAGA.
Intellectual disability v2.468 NACC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to NACC1.
Intellectual disability v2.468 NAA15 Louise Daugherty Source Victorian Clinical Genetics Services was added to NAA15.
Intellectual disability v2.468 NAA10 Louise Daugherty Source Victorian Clinical Genetics Services was added to NAA10.
Intellectual disability v2.468 MYT1L Louise Daugherty Source Victorian Clinical Genetics Services was added to MYT1L.
Intellectual disability v2.468 MYO5A Louise Daugherty Source Victorian Clinical Genetics Services was added to MYO5A.
Intellectual disability v2.468 MYCN Louise Daugherty Source Victorian Clinical Genetics Services was added to MYCN.
Intellectual disability v2.468 MTR Louise Daugherty Source Victorian Clinical Genetics Services was added to MTR.
Intellectual disability v2.468 MTOR Louise Daugherty Source Victorian Clinical Genetics Services was added to MTOR.
Intellectual disability v2.468 MTHFR Louise Daugherty Source Victorian Clinical Genetics Services was added to MTHFR.
Intellectual disability v2.468 MTFMT Louise Daugherty Source Victorian Clinical Genetics Services was added to MTFMT.
Intellectual disability v2.468 MSL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to MSL3.
Intellectual disability v2.468 MRAP Louise Daugherty gene: MRAP was added
gene: MRAP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MRAP was set to
Intellectual disability v2.468 MPZ Louise Daugherty Source Victorian Clinical Genetics Services was added to MPZ.
Intellectual disability v2.468 MPI Louise Daugherty Source Victorian Clinical Genetics Services was added to MPI.
Intellectual disability v2.468 MOGS Louise Daugherty Source Victorian Clinical Genetics Services was added to MOGS.
Intellectual disability v2.468 MOCS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MOCS2.
Intellectual disability v2.468 MMADHC Louise Daugherty Source Victorian Clinical Genetics Services was added to MMADHC.
Intellectual disability v2.468 MLYCD Louise Daugherty Source Victorian Clinical Genetics Services was added to MLYCD.
Intellectual disability v2.468 MKKS Louise Daugherty Source Victorian Clinical Genetics Services was added to MKKS.
Intellectual disability v2.468 MID1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MID1.
Intellectual disability v2.468 MICU1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MICU1.
Intellectual disability v2.468 MGAT2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MGAT2.
Intellectual disability v2.468 MFSD8 Louise Daugherty Source Victorian Clinical Genetics Services was added to MFSD8.
Intellectual disability v2.468 MET Louise Daugherty gene: MET was added
gene: MET was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MET was set to
Intellectual disability v2.468 MEIS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MEIS2.
Intellectual disability v2.468 MEF2C Louise Daugherty Source Victorian Clinical Genetics Services was added to MEF2C.
Intellectual disability v2.468 MED25 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED25.
Intellectual disability v2.468 MED23 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED23.
Intellectual disability v2.468 MED17 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED17.
Intellectual disability v2.468 MED13L Louise Daugherty Source Victorian Clinical Genetics Services was added to MED13L.
Intellectual disability v2.468 MED12 Louise Daugherty Source Victorian Clinical Genetics Services was added to MED12.
Intellectual disability v2.468 MECP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MECP2.
Intellectual disability v2.468 MCPH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCPH1.
Intellectual disability v2.468 MCOLN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCOLN1.
Intellectual disability v2.468 MCM9 Louise Daugherty gene: MCM9 was added
gene: MCM9 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MCM9 was set to
Intellectual disability v2.468 MCCC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCCC2.
Intellectual disability v2.468 MCCC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MCCC1.
Intellectual disability v2.468 MBTPS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MBTPS2.
Intellectual disability v2.468 MBOAT7 Louise Daugherty Source Victorian Clinical Genetics Services was added to MBOAT7.
Intellectual disability v2.468 MBD5 Louise Daugherty Source Victorian Clinical Genetics Services was added to MBD5.
Intellectual disability v2.468 MAT1A Louise Daugherty Source Victorian Clinical Genetics Services was added to MAT1A.
Intellectual disability v2.468 MAPT Louise Daugherty Source Victorian Clinical Genetics Services was added to MAPT.
Intellectual disability v2.468 MAP2K2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAP2K2.
Intellectual disability v2.468 MAOA Louise Daugherty Source Victorian Clinical Genetics Services was added to MAOA.
Intellectual disability v2.468 MANBA Louise Daugherty Source Victorian Clinical Genetics Services was added to MANBA.
Intellectual disability v2.468 MAN2B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAN2B1.
Intellectual disability v2.468 MAN1B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAN1B1.
Intellectual disability v2.468 MAGT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAGT1.
Intellectual disability v2.468 MAGEL2 Louise Daugherty Source Victorian Clinical Genetics Services was added to MAGEL2.
Intellectual disability v2.468 MADD Louise Daugherty gene: MADD was added
gene: MADD was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: MADD was set to
Intellectual disability v2.468 LYST Louise Daugherty Source Victorian Clinical Genetics Services was added to LYST.
Intellectual disability v2.468 LRP5 Louise Daugherty Source Victorian Clinical Genetics Services was added to LRP5.
Intellectual disability v2.468 LRP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to LRP2.
Intellectual disability v2.468 LMBRD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LMBRD1.
Intellectual disability v2.468 LINS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LINS1.
Intellectual disability v2.468 LIG4 Louise Daugherty Source Victorian Clinical Genetics Services was added to LIG4.
Intellectual disability v2.468 LHX3 Louise Daugherty Source Victorian Clinical Genetics Services was added to LHX3.
Intellectual disability v2.468 LBR Louise Daugherty Source Victorian Clinical Genetics Services was added to LBR.
Intellectual disability v2.468 LAS1L Louise Daugherty Source Victorian Clinical Genetics Services was added to LAS1L.
Intellectual disability v2.468 LARS2 Louise Daugherty gene: LARS2 was added
gene: LARS2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: LARS2 was set to
Intellectual disability v2.468 LARGE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LARGE1.
Intellectual disability v2.468 LAMP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMP2.
Intellectual disability v2.468 LAMC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMC3.
Intellectual disability v2.468 LAMA2 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMA2.
Intellectual disability v2.468 LAMA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to LAMA1.
Intellectual disability v2.468 L1CAM Louise Daugherty Source Victorian Clinical Genetics Services was added to L1CAM.
Intellectual disability v2.468 KRAS Louise Daugherty Source Victorian Clinical Genetics Services was added to KRAS.
Intellectual disability v2.468 KPTN Louise Daugherty Source Victorian Clinical Genetics Services was added to KPTN.
Intellectual disability v2.468 KMT5B Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT5B.
Intellectual disability v2.468 KMT2E Louise Daugherty gene: KMT2E was added
gene: KMT2E was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2E was set to
Intellectual disability v2.468 KMT2D Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT2D.
Intellectual disability v2.468 KMT2C Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT2C.
Intellectual disability v2.468 KMT2A Louise Daugherty Source Victorian Clinical Genetics Services was added to KMT2A.
Intellectual disability v2.468 KLHL7 Louise Daugherty Source Victorian Clinical Genetics Services was added to KLHL7.
Intellectual disability v2.468 KIRREL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIRREL3.
Intellectual disability v2.468 KIF7 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF7.
Intellectual disability v2.468 KIF5C Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF5C.
Intellectual disability v2.468 KIF5A Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF5A.
Intellectual disability v2.468 KIF4A Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF4A.
Intellectual disability v2.468 KIF21A Louise Daugherty gene: KIF21A was added
gene: KIF21A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF21A was set to
Intellectual disability v2.468 KIF1A Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF1A.
Intellectual disability v2.468 KIF14 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF14.
Intellectual disability v2.468 KIF11 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIF11.
Intellectual disability v2.468 KIDINS220 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIDINS220.
Intellectual disability v2.468 KIAA1109 Louise Daugherty Source Victorian Clinical Genetics Services was added to KIAA1109.
Intellectual disability v2.468 KDM6A Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM6A.
Intellectual disability v2.468 KDM5C Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM5C.
Intellectual disability v2.468 KDM5B Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM5B.
Intellectual disability v2.468 KDM3B Louise Daugherty gene: KDM3B was added
gene: KDM3B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM3B was set to
Intellectual disability v2.468 KDM1A Louise Daugherty Source Victorian Clinical Genetics Services was added to KDM1A.
Intellectual disability v2.468 KCTD7 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCTD7.
Intellectual disability v2.468 KCTD3 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCTD3.
Intellectual disability v2.468 KCNQ5 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNQ5.
Intellectual disability v2.468 KCNQ3 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNQ3.
Intellectual disability v2.468 KCNQ2 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNQ2.
Intellectual disability v2.468 KCNK9 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNK9.
Intellectual disability v2.468 KCNJ6 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNJ6.
Intellectual disability v2.468 KCNJ11 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNJ11.
Intellectual disability v2.468 KCNJ10 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNJ10.
Intellectual disability v2.468 KCNH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNH1.
Intellectual disability v2.468 KCNC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to KCNC1.
Intellectual disability v2.468 KATNAL2 Louise Daugherty gene: KATNAL2 was added
gene: KATNAL2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KATNAL2 was set to
Intellectual disability v2.468 KAT6A Louise Daugherty Source Victorian Clinical Genetics Services was added to KAT6A.
Intellectual disability v2.468 KAT5 Louise Daugherty gene: KAT5 was added
gene: KAT5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: KAT5 was set to
Intellectual disability v2.468 KANSL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to KANSL1.
Intellectual disability v2.468 ITPR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ITPR1.
Intellectual disability v2.468 ITPA Louise Daugherty Source Victorian Clinical Genetics Services was added to ITPA.
Intellectual disability v2.468 ITGA7 Louise Daugherty Source Victorian Clinical Genetics Services was added to ITGA7.
Intellectual disability v2.468 ISCA2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ISCA2.
Intellectual disability v2.468 IRX5 Louise Daugherty Source Victorian Clinical Genetics Services was added to IRX5.
Intellectual disability v2.468 IQSEC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to IQSEC2.
Intellectual disability v2.468 INTS8 Louise Daugherty Source Victorian Clinical Genetics Services was added to INTS8.
Intellectual disability v2.468 INTS6 Louise Daugherty gene: INTS6 was added
gene: INTS6 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: INTS6 was set to
Intellectual disability v2.468 INTS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to INTS1.
Intellectual disability v2.468 INSR Louise Daugherty gene: INSR was added
gene: INSR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: INSR was set to
Intellectual disability v2.468 INPP5K Louise Daugherty Source Victorian Clinical Genetics Services was added to INPP5K.
Intellectual disability v2.468 ILF2 Louise Daugherty gene: ILF2 was added
gene: ILF2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ILF2 was set to
Intellectual disability v2.468 IL1RAPL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IL1RAPL1.
Intellectual disability v2.468 IGF1R Louise Daugherty Source Victorian Clinical Genetics Services was added to IGF1R.
Intellectual disability v2.468 IGF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IGF1.
Intellectual disability v2.468 IGBP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IGBP1.
Intellectual disability v2.468 IFIH1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IFIH1.
Intellectual disability v2.468 IER3IP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to IER3IP1.
Intellectual disability v2.468 IDS Louise Daugherty Source Victorian Clinical Genetics Services was added to IDS.
Intellectual disability v2.468 IARS Louise Daugherty Source Victorian Clinical Genetics Services was added to IARS.
Intellectual disability v2.468 HUWE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HUWE1.
Intellectual disability v2.468 HSPD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HSPD1.
Intellectual disability v2.468 HSD17B10 Louise Daugherty Source Victorian Clinical Genetics Services was added to HSD17B10.
Intellectual disability v2.468 HRAS Louise Daugherty Source Victorian Clinical Genetics Services was added to HRAS.
Intellectual disability v2.468 HPRT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HPRT1.
Intellectual disability v2.468 HPD Louise Daugherty Source Victorian Clinical Genetics Services was added to HPD.
Intellectual disability v2.468 HOXD10 Louise Daugherty gene: HOXD10 was added
gene: HOXD10 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXD10 was set to
Intellectual disability v2.468 HOXA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HOXA1.
Intellectual disability v2.468 HNRNPU Louise Daugherty Source Victorian Clinical Genetics Services was added to HNRNPU.
Intellectual disability v2.468 HNRNPK Louise Daugherty Source Victorian Clinical Genetics Services was added to HNRNPK.
Intellectual disability v2.468 HNRNPH2 Louise Daugherty Source Victorian Clinical Genetics Services was added to HNRNPH2.
Intellectual disability v2.468 HIST1H4C Louise Daugherty Source Victorian Clinical Genetics Services was added to HIST1H4C.
Intellectual disability v2.468 HIST1H1E Louise Daugherty Source Victorian Clinical Genetics Services was added to HIST1H1E.
Intellectual disability v2.468 HEXB Louise Daugherty Source Victorian Clinical Genetics Services was added to HEXB.
Intellectual disability v2.468 HERC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to HERC2.
Intellectual disability v2.468 HEPACAM Louise Daugherty Source Victorian Clinical Genetics Services was added to HEPACAM.
Intellectual disability v2.468 HECW2 Louise Daugherty Source Victorian Clinical Genetics Services was added to HECW2.
Intellectual disability v2.468 HDAC8 Louise Daugherty Source Victorian Clinical Genetics Services was added to HDAC8.
Intellectual disability v2.468 HDAC4 Louise Daugherty Source Victorian Clinical Genetics Services was added to HDAC4.
Intellectual disability v2.468 HCN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HCN1.
Intellectual disability v2.468 HAX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HAX1.
Intellectual disability v2.468 HARS2 Louise Daugherty gene: HARS2 was added
gene: HARS2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: HARS2 was set to
Intellectual disability v2.468 HACE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HACE1.
Intellectual disability v2.468 H3F3B Louise Daugherty gene: H3F3B was added
gene: H3F3B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: H3F3B was set to
Intellectual disability v2.468 H3F3A Louise Daugherty gene: H3F3A was added
gene: H3F3A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: H3F3A was set to
Intellectual disability v2.468 GYS2 Louise Daugherty gene: GYS2 was added
gene: GYS2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GYS2 was set to
Intellectual disability v2.468 GUSB Louise Daugherty Source Victorian Clinical Genetics Services was added to GUSB.
Intellectual disability v2.468 GTPBP3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GTPBP3.
Intellectual disability v2.468 GTF3C3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GTF3C3.
Intellectual disability v2.468 GSS Louise Daugherty Source Victorian Clinical Genetics Services was added to GSS.
Intellectual disability v2.468 GRM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRM1.
Intellectual disability v2.468 GRIP1 Louise Daugherty gene: GRIP1 was added
gene: GRIP1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIP1 was set to
Intellectual disability v2.468 GRIN2B Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIN2B.
Intellectual disability v2.468 GRIN2A Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIN2A.
Intellectual disability v2.468 GRIN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIN1.
Intellectual disability v2.468 GRIK2 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIK2.
Intellectual disability v2.468 GRIA4 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIA4.
Intellectual disability v2.468 GRIA3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIA3.
Intellectual disability v2.468 GPC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GPC3.
Intellectual disability v2.468 GPAA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GPAA1.
Intellectual disability v2.468 GNPTG Louise Daugherty Source Victorian Clinical Genetics Services was added to GNPTG.
Intellectual disability v2.468 GNPTAB Louise Daugherty Source Victorian Clinical Genetics Services was added to GNPTAB.
Intellectual disability v2.468 GNPAT Louise Daugherty Source Victorian Clinical Genetics Services was added to GNPAT.
Intellectual disability v2.468 GNB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GNB1.
Intellectual disability v2.468 GNAS Louise Daugherty Source Victorian Clinical Genetics Services was added to GNAS.
Intellectual disability v2.468 GNAI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GNAI1.
Intellectual disability v2.468 GM2A Louise Daugherty Source Victorian Clinical Genetics Services was added to GM2A.
Intellectual disability v2.468 GLYCTK Louise Daugherty Source Victorian Clinical Genetics Services was added to GLYCTK.
Intellectual disability v2.468 GLUL Louise Daugherty Source Victorian Clinical Genetics Services was added to GLUL.
Intellectual disability v2.468 GLRA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GLRA1.
Intellectual disability v2.468 GLI3 Louise Daugherty Source Victorian Clinical Genetics Services was added to GLI3.
Intellectual disability v2.468 GLI2 Louise Daugherty Source Victorian Clinical Genetics Services was added to GLI2.
Intellectual disability v2.468 GK Louise Daugherty Source Victorian Clinical Genetics Services was added to GK.
Intellectual disability v2.468 GIGYF2 Louise Daugherty gene: GIGYF2 was added
gene: GIGYF2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GIGYF2 was set to
Intellectual disability v2.468 GHR Louise Daugherty Source Victorian Clinical Genetics Services was added to GHR.
Intellectual disability v2.468 GFM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GFM1.
Intellectual disability v2.468 GFAP Louise Daugherty Source Victorian Clinical Genetics Services was added to GFAP.
Intellectual disability v2.468 GEMIN4 Louise Daugherty Source Victorian Clinical Genetics Services was added to GEMIN4.
Intellectual disability v2.468 GDI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to GDI1.
Intellectual disability v2.468 GCK Louise Daugherty gene: GCK was added
gene: GCK was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GCK was set to
Intellectual disability v2.468 GBE1 Louise Daugherty gene: GBE1 was added
gene: GBE1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to
Intellectual disability v2.468 GBA Louise Daugherty Source Victorian Clinical Genetics Services was added to GBA.
Intellectual disability v2.468 GATM Louise Daugherty Source Victorian Clinical Genetics Services was added to GATM.
Intellectual disability v2.468 GAN Louise Daugherty gene: GAN was added
gene: GAN was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GAN was set to
Intellectual disability v2.468 GAMT Louise Daugherty Source Victorian Clinical Genetics Services was added to GAMT.
Intellectual disability v2.468 GALE Louise Daugherty Source Victorian Clinical Genetics Services was added to GALE.
Intellectual disability v2.468 GABRG3 Louise Daugherty gene: GABRG3 was added
gene: GABRG3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRG3 was set to
Intellectual disability v2.468 GABRG2 Louise Daugherty Source Victorian Clinical Genetics Services was added to GABRG2.
Intellectual disability v2.468 GABRA5 Louise Daugherty gene: GABRA5 was added
gene: GABRA5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRA5 was set to
Intellectual disability v2.468 G6PC3 Louise Daugherty gene: G6PC3 was added
gene: G6PC3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: G6PC3 was set to
Intellectual disability v2.468 FZD3 Louise Daugherty gene: FZD3 was added
gene: FZD3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FZD3 was set to
Intellectual disability v2.468 FTSJ1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FTSJ1.
Intellectual disability v2.468 FTO Louise Daugherty Source Victorian Clinical Genetics Services was added to FTO.
Intellectual disability v2.468 FOXP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOXP2.
Intellectual disability v2.468 FOXP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOXP1.
Intellectual disability v2.468 FOXG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOXG1.
Intellectual disability v2.468 FOLR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FOLR1.
Intellectual disability v2.468 FMR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FMR1.
Intellectual disability v2.468 FMN2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FMN2.
Intellectual disability v2.468 FLNA Louise Daugherty Source Victorian Clinical Genetics Services was added to FLNA.
Intellectual disability v2.468 FKTN Louise Daugherty Source Victorian Clinical Genetics Services was added to FKTN.
Intellectual disability v2.468 FKRP Louise Daugherty Source Victorian Clinical Genetics Services was added to FKRP.
Intellectual disability v2.468 FIBP Louise Daugherty Source Victorian Clinical Genetics Services was added to FIBP.
Intellectual disability v2.468 FGFR3 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGFR3.
Intellectual disability v2.468 FGFR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGFR2.
Intellectual disability v2.468 FGFR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGFR1.
Intellectual disability v2.468 FGF14 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGF14.
Intellectual disability v2.468 FGD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FGD1.
Intellectual disability v2.468 FDXR Louise Daugherty gene: FDXR was added
gene: FDXR was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FDXR was set to
Intellectual disability v2.468 FBN2 Louise Daugherty Source Victorian Clinical Genetics Services was added to FBN2.
Intellectual disability v2.468 FBN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FBN1.
Intellectual disability v2.468 FBLN5 Louise Daugherty gene: FBLN5 was added
gene: FBLN5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: FBLN5 was set to
Intellectual disability v2.468 FAR1 Louise Daugherty Source Victorian Clinical Genetics Services was added to FAR1.
Intellectual disability v2.468 FANCG Louise Daugherty Source Victorian Clinical Genetics Services was added to FANCG.
Intellectual disability v2.468 FANCB Louise Daugherty Source Victorian Clinical Genetics Services was added to FANCB.
Intellectual disability v2.468 FAM126A Louise Daugherty Source Victorian Clinical Genetics Services was added to FAM126A.
Intellectual disability v2.468 F5 Louise Daugherty gene: F5 was added
gene: F5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: F5 was set to
Intellectual disability v2.468 EZH2 Louise Daugherty Source Victorian Clinical Genetics Services was added to EZH2.
Intellectual disability v2.468 EXTL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EXTL3.
Intellectual disability v2.468 ETHE1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ETHE1.
Intellectual disability v2.468 ERCC8 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC8.
Intellectual disability v2.468 ERCC6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC6.
Intellectual disability v2.468 ERCC5 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC5.
Intellectual disability v2.468 ERCC3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC3.
Intellectual disability v2.468 ERCC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ERCC2.
Intellectual disability v2.468 EPB41L1 Louise Daugherty Source Victorian Clinical Genetics Services was added to EPB41L1.
Intellectual disability v2.468 EP300 Louise Daugherty Source Victorian Clinical Genetics Services was added to EP300.
Intellectual disability v2.468 EN2 Louise Daugherty gene: EN2 was added
gene: EN2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: EN2 was set to
Intellectual disability v2.468 ELOVL4 Louise Daugherty Source Victorian Clinical Genetics Services was added to ELOVL4.
Intellectual disability v2.468 EIF4A3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EIF4A3.
Intellectual disability v2.468 EIF2S3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EIF2S3.
Intellectual disability v2.468 EHMT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to EHMT1.
Intellectual disability v2.468 EFNB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to EFNB1.
Intellectual disability v2.468 EEF1A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to EEF1A2.
Intellectual disability v2.468 EED Louise Daugherty Source Victorian Clinical Genetics Services was added to EED.
Intellectual disability v2.468 EBP Louise Daugherty Source Victorian Clinical Genetics Services was added to EBP.
Intellectual disability v2.468 EBF3 Louise Daugherty Source Victorian Clinical Genetics Services was added to EBF3.
Intellectual disability v2.468 DYRK1A Louise Daugherty Source Victorian Clinical Genetics Services was added to DYRK1A.
Intellectual disability v2.468 DYNC1H1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DYNC1H1.
Intellectual disability v2.468 DSCAM Louise Daugherty gene: DSCAM was added
gene: DSCAM was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to
Intellectual disability v2.468 DRD2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DRD2.
Intellectual disability v2.468 DPYD Louise Daugherty Source Victorian Clinical Genetics Services was added to DPYD.
Intellectual disability v2.468 DPM3 Louise Daugherty Source Victorian Clinical Genetics Services was added to DPM3.
Intellectual disability v2.468 DPM2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DPM2.
Intellectual disability v2.468 DPAGT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DPAGT1.
Intellectual disability v2.468 DOLK Louise Daugherty Source Victorian Clinical Genetics Services was added to DOLK.
Intellectual disability v2.468 DOCK8 Louise Daugherty Source Victorian Clinical Genetics Services was added to DOCK8.
Intellectual disability v2.468 DOCK7 Louise Daugherty Source Victorian Clinical Genetics Services was added to DOCK7.
Intellectual disability v2.468 DOCK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to DOCK3.
Intellectual disability v2.468 DNMT3A Louise Daugherty Source Victorian Clinical Genetics Services was added to DNMT3A.
Intellectual disability v2.468 DNM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DNM1.
Intellectual disability v2.468 DNAJC3 Louise Daugherty gene: DNAJC3 was added
gene: DNAJC3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC3 was set to
Intellectual disability v2.468 DNAJC12 Louise Daugherty Source Victorian Clinical Genetics Services was added to DNAJC12.
Intellectual disability v2.468 DMD Louise Daugherty Source Victorian Clinical Genetics Services was added to DMD.
Intellectual disability v2.468 DLGAP2 Louise Daugherty gene: DLGAP2 was added
gene: DLGAP2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DLGAP2 was set to
Intellectual disability v2.468 DLG3 Louise Daugherty Source Victorian Clinical Genetics Services was added to DLG3.
Intellectual disability v2.468 DKC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DKC1.
Intellectual disability v2.468 DIS3L2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DIS3L2.
Intellectual disability v2.468 DIP2B Louise Daugherty Source Victorian Clinical Genetics Services was added to DIP2B.
Intellectual disability v2.468 DHX30 Louise Daugherty Source Victorian Clinical Genetics Services was added to DHX30.
Intellectual disability v2.468 DHCR7 Louise Daugherty Source Victorian Clinical Genetics Services was added to DHCR7.
Intellectual disability v2.468 DHCR24 Louise Daugherty Source Victorian Clinical Genetics Services was added to DHCR24.
Intellectual disability v2.468 DEAF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to DEAF1.
Intellectual disability v2.468 DDX58 Louise Daugherty gene: DDX58 was added
gene: DDX58 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DDX58 was set to
Intellectual disability v2.468 DDX3X Louise Daugherty Source Victorian Clinical Genetics Services was added to DDX3X.
Intellectual disability v2.468 DDOST Louise Daugherty Source Victorian Clinical Genetics Services was added to DDOST.
Intellectual disability v2.468 DCX Louise Daugherty Source Victorian Clinical Genetics Services was added to DCX.
Intellectual disability v2.468 DBT Louise Daugherty Source Victorian Clinical Genetics Services was added to DBT.
Intellectual disability v2.468 DARS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to DARS2.
Intellectual disability v2.468 DAB1 Louise Daugherty gene: DAB1 was added
gene: DAB1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: DAB1 was set to
Intellectual disability v2.468 D2HGDH Louise Daugherty Source Victorian Clinical Genetics Services was added to D2HGDH.
Intellectual disability v2.468 CYP27A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CYP27A1.
Intellectual disability v2.468 CYB5R3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CYB5R3.
Intellectual disability v2.468 CWC27 Louise Daugherty Source Victorian Clinical Genetics Services was added to CWC27.
Intellectual disability v2.468 CUL4B Louise Daugherty Source Victorian Clinical Genetics Services was added to CUL4B.
Intellectual disability v2.468 CUL3 Louise Daugherty gene: CUL3 was added
gene: CUL3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL3 was set to
Intellectual disability v2.468 CTSA Louise Daugherty Source Victorian Clinical Genetics Services was added to CTSA.
Intellectual disability v2.468 CTNND2 Louise Daugherty gene: CTNND2 was added
gene: CTNND2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNND2 was set to
Intellectual disability v2.468 CTNNB1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CTNNB1.
Intellectual disability v2.468 CTCF Louise Daugherty Source Victorian Clinical Genetics Services was added to CTCF.
Intellectual disability v2.468 CTC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CTC1.
Intellectual disability v2.468 CSPP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CSPP1.
Intellectual disability v2.468 CSNK2B Louise Daugherty Source Victorian Clinical Genetics Services was added to CSNK2B.
Intellectual disability v2.468 CSNK2A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CSNK2A1.
Intellectual disability v2.468 CREBBP Louise Daugherty Source Victorian Clinical Genetics Services was added to CREBBP.
Intellectual disability v2.468 CRBN Louise Daugherty Source Victorian Clinical Genetics Services was added to CRBN.
Intellectual disability v2.468 CRADD Louise Daugherty Source Victorian Clinical Genetics Services was added to CRADD.
Intellectual disability v2.468 CPS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CPS1.
Intellectual disability v2.468 CPD Louise Daugherty gene: CPD was added
gene: CPD was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CPD was set to
Intellectual disability v2.468 CPA6 Louise Daugherty Source Victorian Clinical Genetics Services was added to CPA6.
Intellectual disability v2.468 CP Louise Daugherty Source Victorian Clinical Genetics Services was added to CP.
Intellectual disability v2.468 COQ5 Louise Daugherty Source Victorian Clinical Genetics Services was added to COQ5.
Intellectual disability v2.468 COQ4 Louise Daugherty Source Victorian Clinical Genetics Services was added to COQ4.
Intellectual disability v2.468 COLEC10 Louise Daugherty gene: COLEC10 was added
gene: COLEC10 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COLEC10 was set to
Intellectual disability v2.468 COL25A1 Louise Daugherty gene: COL25A1 was added
gene: COL25A1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COL25A1 was set to
Intellectual disability v2.468 COL1A2 Louise Daugherty gene: COL1A2 was added
gene: COL1A2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COL1A2 was set to
Intellectual disability v2.468 COG8 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG8.
Intellectual disability v2.468 COG7 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG7.
Intellectual disability v2.468 COG5 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG5.
Intellectual disability v2.468 COG4 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG4.
Intellectual disability v2.468 COG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to COG1.
Intellectual disability v2.468 COASY Louise Daugherty Source Victorian Clinical Genetics Services was added to COASY.
Intellectual disability v2.468 COA3 Louise Daugherty gene: COA3 was added
gene: COA3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: COA3 was set to
Intellectual disability v2.468 CNTNAP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNTNAP2.
Intellectual disability v2.468 CNTN4 Louise Daugherty gene: CNTN4 was added
gene: CNTN4 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CNTN4 was set to
Intellectual disability v2.468 CNTN3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNTN3.
Intellectual disability v2.468 CNOT3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNOT3.
Intellectual disability v2.468 CNKSR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CNKSR2.
Intellectual disability v2.468 CLPP Louise Daugherty gene: CLPP was added
gene: CLPP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CLPP was set to
Intellectual disability v2.468 CLPB Louise Daugherty Source Victorian Clinical Genetics Services was added to CLPB.
Intellectual disability v2.468 CLN3 Louise Daugherty Source Victorian Clinical Genetics Services was added to CLN3.
Intellectual disability v2.468 CLIC2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CLIC2.
Intellectual disability v2.468 CKAP2L Louise Daugherty Source Victorian Clinical Genetics Services was added to CKAP2L.
Intellectual disability v2.468 CIC Louise Daugherty Source Victorian Clinical Genetics Services was added to CIC.
Intellectual disability v2.468 CHRNA4 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHRNA4.
Intellectual disability v2.468 CHKB Louise Daugherty Source Victorian Clinical Genetics Services was added to CHKB.
Intellectual disability v2.468 CHD8 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD8.
Intellectual disability v2.468 CHD7 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD7.
Intellectual disability v2.468 CHD4 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD4.
Intellectual disability v2.468 CHD2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CHD2.
Intellectual disability v2.468 CEP83 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP83.
Intellectual disability v2.468 CEP57 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP57.
Intellectual disability v2.468 CEP41 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP41.
Intellectual disability v2.468 CEP290 Louise Daugherty Source Victorian Clinical Genetics Services was added to CEP290.
Intellectual disability v2.468 CENPJ Louise Daugherty Source Victorian Clinical Genetics Services was added to CENPJ.
Intellectual disability v2.468 CENPF Louise Daugherty Source Victorian Clinical Genetics Services was added to CENPF.
Intellectual disability v2.468 CDKN1C Louise Daugherty Source Victorian Clinical Genetics Services was added to CDKN1C.
Intellectual disability v2.468 CDKL5 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDKL5.
Intellectual disability v2.468 CDK5RAP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDK5RAP2.
Intellectual disability v2.468 CDK5R1 Louise Daugherty gene: CDK5R1 was added
gene: CDK5R1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK5R1 was set to
Intellectual disability v2.468 CDK13 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDK13.
Intellectual disability v2.468 CDK10 Louise Daugherty gene: CDK10 was added
gene: CDK10 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK10 was set to
Intellectual disability v2.468 CDH15 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDH15.
Intellectual disability v2.468 CDC42 Louise Daugherty Source Victorian Clinical Genetics Services was added to CDC42.
Intellectual disability v2.468 CCND2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CCND2.
Intellectual disability v2.468 CCDC88C Louise Daugherty Source Victorian Clinical Genetics Services was added to CCDC88C.
Intellectual disability v2.468 CCDC88A Louise Daugherty Source Victorian Clinical Genetics Services was added to CCDC88A.
Intellectual disability v2.468 CCDC22 Louise Daugherty Source Victorian Clinical Genetics Services was added to CCDC22.
Intellectual disability v2.468 CC2D2A Louise Daugherty Source Victorian Clinical Genetics Services was added to CC2D2A.
Intellectual disability v2.468 CC2D1A Louise Daugherty Source Victorian Clinical Genetics Services was added to CC2D1A.
Intellectual disability v2.468 CBS Louise Daugherty Source Victorian Clinical Genetics Services was added to CBS.
Intellectual disability v2.468 CASK Louise Daugherty Source Victorian Clinical Genetics Services was added to CASK.
Intellectual disability v2.468 CANT1 Louise Daugherty gene: CANT1 was added
gene: CANT1 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CANT1 was set to
Intellectual disability v2.468 CAMTA1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CAMTA1.
Intellectual disability v2.468 CAMK2B Louise Daugherty Source Victorian Clinical Genetics Services was added to CAMK2B.
Intellectual disability v2.468 CAMK2A Louise Daugherty Source Victorian Clinical Genetics Services was added to CAMK2A.
Intellectual disability v2.468 CACNG2 Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNG2.
Intellectual disability v2.468 CACNA2D3 Louise Daugherty gene: CACNA2D3 was added
gene: CACNA2D3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA2D3 was set to
Intellectual disability v2.468 CACNA1H Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNA1H.
Intellectual disability v2.468 CACNA1F Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNA1F.
Intellectual disability v2.468 CACNA1C Louise Daugherty Source Victorian Clinical Genetics Services was added to CACNA1C.
Intellectual disability v2.468 CA5A Louise Daugherty gene: CA5A was added
gene: CA5A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: CA5A was set to
Intellectual disability v2.468 C3orf58 Louise Daugherty gene: C3orf58 was added
gene: C3orf58 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: C3orf58 was set to
Intellectual disability v2.468 C2CD3 Louise Daugherty Source Victorian Clinical Genetics Services was added to C2CD3.
Intellectual disability v2.468 C12orf57 Louise Daugherty Source Victorian Clinical Genetics Services was added to C12orf57.
Intellectual disability v2.468 C12orf4 Louise Daugherty Source Victorian Clinical Genetics Services was added to C12orf4.
Intellectual disability v2.468 BUB1B Louise Daugherty Source Victorian Clinical Genetics Services was added to BUB1B.
Intellectual disability v2.468 BRWD3 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRWD3.
Intellectual disability v2.468 BRPF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRPF1.
Intellectual disability v2.468 BRIP1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRIP1.
Intellectual disability v2.468 BRF1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BRF1.
Intellectual disability v2.468 BRAF Louise Daugherty Source Victorian Clinical Genetics Services was added to BRAF.
Intellectual disability v2.468 BPTF Louise Daugherty Source Victorian Clinical Genetics Services was added to BPTF.
Intellectual disability v2.468 BIN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BIN1.
Intellectual disability v2.468 BCS1L Louise Daugherty Source Victorian Clinical Genetics Services was added to BCS1L.
Intellectual disability v2.468 BCOR Louise Daugherty Source Victorian Clinical Genetics Services was added to BCOR.
Intellectual disability v2.468 BCL11A Louise Daugherty Source Victorian Clinical Genetics Services was added to BCL11A.
Intellectual disability v2.468 BCKDK Louise Daugherty Source Victorian Clinical Genetics Services was added to BCKDK.
Intellectual disability v2.468 BBS9 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS9.
Intellectual disability v2.468 BBS7 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS7.
Intellectual disability v2.468 BBS5 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS5.
Intellectual disability v2.468 BBS4 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS4.
Intellectual disability v2.468 BBS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS2.
Intellectual disability v2.468 BBS12 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS12.
Intellectual disability v2.468 BBS10 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS10.
Intellectual disability v2.468 BBS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to BBS1.
Intellectual disability v2.468 B4GALT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to B4GALT1.
Intellectual disability v2.468 AVPR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AVPR2.
Intellectual disability v2.468 AVP Louise Daugherty gene: AVP was added
gene: AVP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AVP was set to
Intellectual disability v2.468 AUTS2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AUTS2.
Intellectual disability v2.468 AUH Louise Daugherty Source Victorian Clinical Genetics Services was added to AUH.
Intellectual disability v2.468 ATRX Louise Daugherty Source Victorian Clinical Genetics Services was added to ATRX.
Intellectual disability v2.468 ATP7A Louise Daugherty Source Victorian Clinical Genetics Services was added to ATP7A.
Intellectual disability v2.468 ATP6AP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ATP6AP2.
Intellectual disability v2.468 ATP1A2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ATP1A2.
Intellectual disability v2.468 ATM Louise Daugherty Source Victorian Clinical Genetics Services was added to ATM.
Intellectual disability v2.468 ATL1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ATL1.
Intellectual disability v2.468 ATIC Louise Daugherty Source Victorian Clinical Genetics Services was added to ATIC.
Intellectual disability v2.468 ASXL3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ASXL3.
Intellectual disability v2.468 ASXL2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ASXL2.
Intellectual disability v2.468 ASS1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ASS1.
Intellectual disability v2.468 ASPM Louise Daugherty Source Victorian Clinical Genetics Services was added to ASPM.
Intellectual disability v2.468 ASPH Louise Daugherty gene: ASPH was added
gene: ASPH was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ASPH was set to
Intellectual disability v2.468 ASMT Louise Daugherty Source Victorian Clinical Genetics Services was added to ASMT.
Intellectual disability v2.468 ASH1L Louise Daugherty Source Victorian Clinical Genetics Services was added to ASH1L.
Intellectual disability v2.468 ARX Louise Daugherty Source Victorian Clinical Genetics Services was added to ARX.
Intellectual disability v2.468 ARV1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARV1.
Intellectual disability v2.468 ARID2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARID2.
Intellectual disability v2.468 ARID1B Louise Daugherty Source Victorian Clinical Genetics Services was added to ARID1B.
Intellectual disability v2.468 ARID1A Louise Daugherty Source Victorian Clinical Genetics Services was added to ARID1A.
Intellectual disability v2.468 ARHGEF9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARHGEF9.
Intellectual disability v2.468 ARHGEF6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARHGEF6.
Intellectual disability v2.468 ARG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARG1.
Intellectual disability v2.468 ARCN1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARCN1.
Intellectual disability v2.468 AR Louise Daugherty Source Victorian Clinical Genetics Services was added to AR.
Intellectual disability v2.468 AQP7 Louise Daugherty gene: AQP7 was added
gene: AQP7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AQP7 was set to
Intellectual disability v2.468 APOPT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to APOPT1.
Intellectual disability v2.468 AP4S1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4S1.
Intellectual disability v2.468 AP4M1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4M1.
Intellectual disability v2.468 AP4E1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4E1.
Intellectual disability v2.468 AP4B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP4B1.
Intellectual disability v2.468 AP3B1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP3B1.
Intellectual disability v2.468 AP1S2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP1S2.
Intellectual disability v2.468 AP1S1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AP1S1.
Intellectual disability v2.468 ANKRD11 Louise Daugherty Source Victorian Clinical Genetics Services was added to ANKRD11.
Intellectual disability v2.468 ANK3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ANK3.
Intellectual disability v2.468 AMER1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AMER1.
Intellectual disability v2.468 ALX4 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALX4.
Intellectual disability v2.468 ALG9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG9.
Intellectual disability v2.468 ALG8 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG8.
Intellectual disability v2.468 ALG6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG6.
Intellectual disability v2.468 ALG3 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG3.
Intellectual disability v2.468 ALG2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG2.
Intellectual disability v2.468 ALG13 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG13.
Intellectual disability v2.468 ALG12 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG12.
Intellectual disability v2.468 ALG11 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG11.
Intellectual disability v2.468 ALG1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALG1.
Intellectual disability v2.468 ALDH5A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALDH5A1.
Intellectual disability v2.468 ALDH4A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALDH4A1.
Intellectual disability v2.468 ALDH18A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ALDH18A1.
Intellectual disability v2.468 AKT3 Louise Daugherty Source Victorian Clinical Genetics Services was added to AKT3.
Intellectual disability v2.468 AKAP6 Louise Daugherty Source Victorian Clinical Genetics Services was added to AKAP6.
Intellectual disability v2.468 AIFM1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AIFM1.
Intellectual disability v2.468 AHI1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AHI1.
Intellectual disability v2.468 AHDC1 Louise Daugherty Source Victorian Clinical Genetics Services was added to AHDC1.
Intellectual disability v2.468 AGTR2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AGTR2.
Intellectual disability v2.468 AGT Louise Daugherty gene: AGT was added
gene: AGT was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AGT was set to
Intellectual disability v2.468 AGL Louise Daugherty Source Victorian Clinical Genetics Services was added to AGL.
Intellectual disability v2.468 AFP Louise Daugherty gene: AFP was added
gene: AFP was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AFP was set to
Intellectual disability v2.468 AFF3 Louise Daugherty gene: AFF3 was added
gene: AFF3 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: AFF3 was set to
Intellectual disability v2.468 AFF2 Louise Daugherty Source Victorian Clinical Genetics Services was added to AFF2.
Intellectual disability v2.468 ADSL Louise Daugherty Source Victorian Clinical Genetics Services was added to ADSL.
Intellectual disability v2.468 ADNP Louise Daugherty Source Victorian Clinical Genetics Services was added to ADNP.
Intellectual disability v2.468 ADAR Louise Daugherty Source Victorian Clinical Genetics Services was added to ADAR.
Intellectual disability v2.468 ACY1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACY1.
Intellectual disability v2.468 ACTL6A Louise Daugherty Source Victorian Clinical Genetics Services was added to ACTL6A.
Intellectual disability v2.468 ACSL4 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACSL4.
Intellectual disability v2.468 ACOX1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACOX1.
Intellectual disability v2.468 ACO2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACO2.
Intellectual disability v2.468 ACAT1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ACAT1.
Intellectual disability v2.468 ACADSB Louise Daugherty gene: ACADSB was added
gene: ACADSB was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADSB was set to
Intellectual disability v2.468 ABCG5 Louise Daugherty gene: ABCG5 was added
gene: ABCG5 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG5 was set to
Intellectual disability v2.468 ABCD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to ABCD1.
Intellectual disability v2.468 ABCC9 Louise Daugherty Source Victorian Clinical Genetics Services was added to ABCC9.
Intellectual disability v2.468 ABCC8 Louise Daugherty gene: ABCC8 was added
gene: ABCC8 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCC8 was set to
Intellectual disability v2.468 ABCC6 Louise Daugherty Source Victorian Clinical Genetics Services was added to ABCC6.
Intellectual disability v2.467 GRIA4 Louise Daugherty Classified gene: GRIA4 as Green List (high evidence)
Intellectual disability v2.467 GRIA4 Louise Daugherty Added comment: Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Intellectual disability v2.467 GRIA4 Louise Daugherty Gene: gria4 has been classified as Green List (High Evidence).
Intellectual disability v2.466 GRIA4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.466 GRIA4 Louise Daugherty Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities to Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Intellectual disability v2.465 IBA57 Louise Daugherty Classified gene: IBA57 as Green List (high evidence)
Intellectual disability v2.465 IBA57 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.465 IBA57 Louise Daugherty Gene: iba57 has been classified as Green List (High Evidence).
Intellectual disability v2.464 KDM1A Louise Daugherty Deleted their comment
Intellectual disability v2.464 IBA57 Louise Daugherty gene: IBA57 was added
gene: IBA57 was added to Intellectual disability. Sources: Expert list
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 28671726; 23462291; 25971455; 28913435; 27785568
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330; intellectual disability, seizures, loss of milestones
Review for gene: IBA57 was set to GREEN
Added comment: New gene suggested by external expert (and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Sources: Expert list
Inherited white matter disorders v1.22 IBA57 Louise Daugherty Classified gene: IBA57 as Green List (high evidence)
Inherited white matter disorders v1.22 IBA57 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Inherited white matter disorders v1.22 IBA57 Louise Daugherty Gene: iba57 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.21 IBA57 Louise Daugherty Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 to Multiple mitochondrial dysfunctions syndrome 3, 615330
Inherited white matter disorders v1.20 IBA57 Louise Daugherty Publications for gene: IBA57 were set to 28671726, 23462291, 25971455, 28913435, 27785568
Intellectual disability v2.463 KDM1A Louise Daugherty Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, 616728 to Cleft palate, psychomotor retardation, and distinctive facial features, 616728; Developmental delay
Intellectual disability v2.462 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.462 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.462 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.461 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.461 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.461 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.460 KDM1A Louise Daugherty Tag watchlist was removed from gene: KDM1A.
Intellectual disability v2.460 KDM1A Louise Daugherty Classified gene: KDM1A as Green List (high evidence)
Intellectual disability v2.460 KDM1A Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Publications support gene-disease association and rating of this gene to Green on the ID panel
Intellectual disability v2.460 KDM1A Louise Daugherty Gene: kdm1a has been classified as Green List (High Evidence).
Intellectual disability v2.459 KDM1A Louise Daugherty Publications for gene: KDM1A were set to 26077434; 24838796
Intellectual disability v2.459 KDM1A Louise Daugherty Added comment: Comment on phenotypes: added MIMid
Intellectual disability v2.459 KDM1A Louise Daugherty Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, 616728
Intellectual disability v2.458 KDM1A Louise Daugherty edited their review of gene: KDM1A: Added comment: Recommendation that this gene should be Green. Three patients https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902791/, there is functional characterisation of the three described mutations https://www.ncbi.nlm.nih.gov/pubmed/27094131?dopt=Abstract and the patients seem to share a similar phenotype, which recapitulates features of other deleterious mutations in better-characterised lysine demethylase and chromatin remodelling genes. There is also a recurrent de novo variant p.Tyr831Cys which has been reported in two separate "autism spectrum" patients in large cohort studies. The gene is also extensively constrained against both missense and LOF variation in humans http://exac.broadinstitute.org/gene/ENSG00000004487. I think what's been reported so far is probably robust enough to use the gene clinically.Pers comm. Ian Berry (NHS Leeds Genetics Laboratory); Changed rating: GREEN
Intellectual disability v2.458 PHIP Louise Daugherty Classified gene: PHIP as Green List (high evidence)
Intellectual disability v2.458 PHIP Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green. Publications now support gene-disease association and rating of this gene to Green on the ID panel.
Intellectual disability v2.458 PHIP Louise Daugherty Gene: phip has been classified as Green List (High Evidence).
Intellectual disability v2.457 PHIP Louise Daugherty Added comment: Comment on phenotypes: updated with OMIN and MIMid
Intellectual disability v2.457 PHIP Louise Daugherty Phenotypes for gene: PHIP were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY; Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
Intellectual disability v2.456 PHIP Louise Daugherty Publications for gene: PHIP were set to 0
Intellectual disability v2.455 PHIP Louise Daugherty edited their review of gene: PHIP: Added comment: Recommendation that this gene should be Green based on recent publication PMID:29209020, more than 20 unrelated cases Pers comm. Ian Berry (NHS Leeds Genetics Laboratory); Changed rating: GREEN; Changed publications: 29209020, 23033978, 27900362; Changed phenotypes: Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.499 TUBA3E Sarah Leigh Marked gene: TUBA3E as ready
Early onset or syndromic epilepsy v0.499 TUBA3E Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.499 TUBA3E Sarah Leigh Gene: tuba3e has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Marked gene: SRPX2 as ready
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene.
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Gene: srpx2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Classified gene: SRPX2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.499 SRPX2 Sarah Leigh Gene: srpx2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.498 SRPX2 Sarah Leigh Publications for gene: SRPX2 were set to 24179158; 18718938; 29663392; 24995671
Early onset or syndromic epilepsy v0.497 AKT1 Sarah Leigh Phenotypes for gene: AKT1 were changed from to Proteus syndrome, somatic 176920
Early onset or syndromic epilepsy v0.496 AKT1 Sarah Leigh Publications for gene: AKT1 were set to 23992099; 21793738
Early onset or syndromic epilepsy v0.495 AKT1 Sarah Leigh Mode of pathogenicity for gene: AKT1 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
Early onset or syndromic epilepsy v0.494 AKT1 Sarah Leigh Added comment: Comment on mode of inheritance: Somatic mosaicism
Early onset or syndromic epilepsy v0.494 AKT1 Sarah Leigh Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.493 AKT1 Sarah Leigh Classified gene: AKT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.493 AKT1 Sarah Leigh Gene: akt1 has been classified as Green List (High Evidence).
Limb disorders v0.173 ALMS1 Eleanor Williams Classified gene: ALMS1 as Red List (low evidence)
Limb disorders v0.173 ALMS1 Eleanor Williams Added comment: Comment on list classification: Rating red as only one report of a variant in this gene being associated with a polydactyly phenotype.
Limb disorders v0.173 ALMS1 Eleanor Williams Gene: alms1 has been classified as Red List (Low Evidence).
Limb disorders v0.172 ALMS1 Eleanor Williams edited their review of gene: ALMS1: Changed publications: 24400638
Limb disorders v0.172 ALMS1 Eleanor Williams commented on gene: ALMS1
Limb disorders v0.172 AKT3 Eleanor Williams commented on gene: AKT3: Consulting with the Genomics England clinical team as to the appropriate rating of this gene.
Limb disorders v0.172 AHI1 Eleanor Williams edited their review of gene: AHI1: Changed publications: 17377524, 1341417; Changed phenotypes: Joubert syndrome 3 608629
Limb disorders v0.172 AKT3 Eleanor Williams edited their review of gene: AKT3: Changed publications: 23592320, 22729224, 23745724, 22500628, 22729223; Changed phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Marked gene: SNIP1 as ready
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Gene: snip1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Classified gene: SNIP1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.492 SNIP1 Sarah Leigh Gene: snip1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.491 SEC24D Sarah Leigh Marked gene: SEC24D as ready
Early onset or syndromic epilepsy v0.491 SEC24D Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.491 SEC24D Sarah Leigh Gene: sec24d has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.491 PSMB8 Sarah Leigh Marked gene: PSMB8 as ready
Early onset or syndromic epilepsy v0.491 PSMB8 Sarah Leigh Gene: psmb8 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Marked gene: PIGH as ready
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Classified gene: PIGH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.491 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.490 PIGH Sarah Leigh Classified gene: PIGH as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.490 PIGH Sarah Leigh Gene: pigh has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Tag watchlist tag was added to gene: PIGH.
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Added comment: Comment on phenotypes: PMID: 29573052 mentions the following phenotype: hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Early onset or syndromic epilepsy v0.489 PIGH Sarah Leigh Phenotypes for gene: PIGH were changed from Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect 17 618010
Early onset or syndromic epilepsy v0.488 PIGH Sarah Leigh Publications for gene: PIGH were set to 29603516; 29573052; 29603510
Early onset or syndromic epilepsy v0.487 PIGH Sarah Leigh Publications for gene: PIGH were set to 29603516
Early onset or syndromic epilepsy v0.486 PCDHB4 Sarah Leigh Marked gene: PCDHB4 as ready
Early onset or syndromic epilepsy v0.486 PCDHB4 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.486 PCDHB4 Sarah Leigh Gene: pcdhb4 has been classified as Red List (Low Evidence).
Limb disorders v0.172 AKT3 Eleanor Williams commented on gene: AKT3
Early onset or syndromic epilepsy v0.486 NID1 Sarah Leigh Marked gene: NID1 as ready
Early onset or syndromic epilepsy v0.486 NID1 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.486 NID1 Sarah Leigh Gene: nid1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Marked gene: MAGI2 as ready
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Gene: magi2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Added comment: Comment on phenotypes: Biallelic frame shifting truncating variants associated with Nephrotic syndrome, type 15 617609
Early onset or syndromic epilepsy v0.486 MAGI2 Sarah Leigh Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Infantile Spasms
Early onset or syndromic epilepsy v0.485 MAGI2 Sarah Leigh Tag cnv tag was added to gene: MAGI2.
Early onset or syndromic epilepsy v0.485 MATN4 Sarah Leigh Marked gene: MATN4 as ready
Early onset or syndromic epilepsy v0.485 MATN4 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.485 MATN4 Sarah Leigh Gene: matn4 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 INO80 Sarah Leigh Marked gene: INO80 as ready
Early onset or syndromic epilepsy v0.485 INO80 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen identified as a candidate gene in PMID 25558065
Early onset or syndromic epilepsy v0.485 INO80 Sarah Leigh Gene: ino80 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 GAL Sarah Leigh Marked gene: GAL as ready
Early onset or syndromic epilepsy v0.485 GAL Sarah Leigh Gene: gal has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 GABRD Sarah Leigh Marked gene: GABRD as ready
Early onset or syndromic epilepsy v0.485 GABRD Sarah Leigh Gene: gabrd has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Marked gene: EFTUD2 as ready
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Gene: eftud2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Classified gene: EFTUD2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.485 EFTUD2 Sarah Leigh Gene: eftud2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.484 EFTUD2 Sarah Leigh Classified gene: EFTUD2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.484 EFTUD2 Sarah Leigh Gene: eftud2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.483 DMBX1 Sarah Leigh Marked gene: DMBX1 as ready
Early onset or syndromic epilepsy v0.483 DMBX1 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen, candidate gene in pmid 25558065
Early onset or syndromic epilepsy v0.483 DMBX1 Sarah Leigh Gene: dmbx1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.483 CSNK1G1 Sarah Leigh Publications for gene: CSNK1G1 were set to 24463883
Early onset or syndromic epilepsy v0.482 CSNK1G1 Sarah Leigh Marked gene: CSNK1G1 as ready
Early onset or syndromic epilepsy v0.482 CSNK1G1 Sarah Leigh Gene: csnk1g1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.482 CSNK1G1 Sarah Leigh Publications for gene: CSNK1G1 were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Marked gene: POMT2 as ready
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.481 POMT2 Sarah Leigh Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.480 POMT2 Sarah Leigh Added comment: Comment on phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.480 POMT2 Sarah Leigh Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Early onset or syndromic epilepsy v0.479 AKT1 Sarah Leigh Added comment: Comment on mode of pathogenicity: somatic mosaic activating variants
Early onset or syndromic epilepsy v0.479 AKT1 Sarah Leigh Mode of pathogenicity for gene: AKT1 was changed from None to None
Early onset or syndromic epilepsy v0.478 AKT1 Sarah Leigh Publications for gene: AKT1 were set to 23992099
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Marked gene: CCDC88C as ready
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Tag watchlist tag was added to gene: CCDC88C.
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Classified gene: CCDC88C as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.477 CCDC88C Sarah Leigh Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.20 NFAT5 Louise Daugherty commented on gene: NFAT5: watch tag added - there is supportive evidence in terms of cellular studies in mice that partially reproduce the immune phenotype with haploinsufficiency of this gene, Watchlist tag added in relation for further evidence of CNV / SNVs to promote it to green.
Early onset or syndromic epilepsy v0.476 CLCN2 Sarah Leigh Marked gene: CLCN2 as ready
Early onset or syndromic epilepsy v0.476 CLCN2 Sarah Leigh Gene: clcn2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.20 NFAT5 Sarah Leigh Classified gene: NFAT5 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.20 NFAT5 Sarah Leigh Added comment: Comment on list classification: This rating of this gene has been returned to red. The amber rating was made in error as only one immunodeficiency associated variant has been reported in this gene.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.20 NFAT5 Sarah Leigh Gene: nfat5 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 NFAT5 Louise Daugherty edited their review of gene: NFAT5: Changed rating: RED
Limb disorders v0.172 AHI1 Eleanor Williams commented on gene: AHI1: Checking with Genomics England clinical team whether the Jouberts Syndrome is a relevant phenotype for this panel.
Limb disorders v0.172 AHI1 Eleanor Williams commented on gene: AHI1
Early onset or syndromic epilepsy v0.476 UBA5 Sarah Leigh Classified gene: UBA5 as Green List (high evidence)
Early onset or syndromic epilepsy v0.476 UBA5 Sarah Leigh Gene: uba5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Marked gene: TUBB4A as ready
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in numerous cases.
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Gene: tubb4a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Classified gene: TUBB4A as Green List (high evidence)
Early onset or syndromic epilepsy v0.475 TUBB4A Sarah Leigh Gene: tubb4a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.474 TSEN15 Sarah Leigh Marked gene: TSEN15 as ready
Early onset or syndromic epilepsy v0.474 TSEN15 Sarah Leigh Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.474 TSC1 Sarah Leigh Marked gene: TSC1 as ready
Early onset or syndromic epilepsy v0.474 TSC1 Sarah Leigh Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Marked gene: SLC35A1 as ready
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Tag watchlist tag was added to gene: SLC35A1.
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Marked gene: RTTN as ready
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Added comment: Comment when marking as ready: Green rating based on previous evidence and report of an additional case displaying seizures in PMID 29967526.
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Gene: rttn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.474 RTTN Sarah Leigh Publications for gene: RTTN were set to 26608784
Early onset or syndromic epilepsy v0.473 KCNMA1 Sarah Leigh Marked gene: KCNMA1 as ready
Early onset or syndromic epilepsy v0.473 KCNMA1 Sarah Leigh Gene: kcnma1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.473 RTTN Sarah Leigh Classified gene: RTTN as Green List (high evidence)
Early onset or syndromic epilepsy v0.473 RTTN Sarah Leigh Gene: rttn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.472 POMT2 Sarah Leigh Mode of inheritance for gene: POMT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.471 POMT2 Sarah Leigh Marked gene: POMT2 as ready
Early onset or syndromic epilepsy v0.471 POMT2 Sarah Leigh Gene: pomt2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Marked gene: PEX5 as ready
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Gene: pex5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 PEX5 Sarah Leigh Tag watchlist tag was added to gene: PEX5.
Early onset or syndromic epilepsy v0.471 MED17 Sarah Leigh Marked gene: MED17 as ready
Early onset or syndromic epilepsy v0.471 MED17 Sarah Leigh Gene: med17 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 KPTN Sarah Leigh Marked gene: KPTN as ready
Early onset or syndromic epilepsy v0.471 KPTN Sarah Leigh Gene: kptn has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.471 HAX1 Sarah Leigh Classified gene: HAX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.471 HAX1 Sarah Leigh Gene: hax1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.470 HAX1 Sarah Leigh Marked gene: HAX1 as ready
Early onset or syndromic epilepsy v0.470 HAX1 Sarah Leigh Gene: hax1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 CACNA1H Sarah Leigh Marked gene: CACNA1H as ready
Early onset or syndromic epilepsy v0.470 CACNA1H Sarah Leigh Gene: cacna1h has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ATP6AP2 Sarah Leigh Marked gene: ATP6AP2 as ready
Early onset or syndromic epilepsy v0.470 ATP6AP2 Sarah Leigh Gene: atp6ap2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ATP6AP2 Sarah Leigh Tag watchlist tag was added to gene: ATP6AP2.
Early onset or syndromic epilepsy v0.470 FTL Sarah Leigh Marked gene: FTL as ready
Early onset or syndromic epilepsy v0.470 FTL Sarah Leigh Gene: ftl has been classified as Red List (Low Evidence).
Intellectual disability v2.455 PACS2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the intellectual disability panel
Intellectual disability v2.455 PACS2 Louise Daugherty Phenotypes for gene: PACS2 were changed from Epileptic encephalopathy, early infantile, 66, 618067 to Epileptic encephalopathy, early infantile, 66, 618067; Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebellum
Early onset or syndromic epilepsy v0.470 CBL Sarah Leigh Marked gene: CBL as ready
Early onset or syndromic epilepsy v0.470 CBL Sarah Leigh Gene: cbl has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.470 ALG2 Sarah Leigh Marked gene: ALG2 as ready
Early onset or syndromic epilepsy v0.470 ALG2 Sarah Leigh Gene: alg2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.470 ST3GAL3 Sarah Leigh Marked gene: ST3GAL3 as ready
Early onset or syndromic epilepsy v0.470 ST3GAL3 Sarah Leigh Gene: st3gal3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 TFE3 Sarah Leigh Marked gene: TFE3 as ready
Early onset or syndromic epilepsy v0.470 TFE3 Sarah Leigh Gene: tfe3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ATP1A2 Sarah Leigh Marked gene: ATP1A2 as ready
Early onset or syndromic epilepsy v0.470 ATP1A2 Sarah Leigh Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Marked gene: ARG1 as ready
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Gene: arg1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Classified gene: ARG1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.470 ARG1 Sarah Leigh Gene: arg1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.469 ARG1 Sarah Leigh gene: ARG1 was added
gene: ARG1 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 26310552; 1463019
Phenotypes for gene: ARG1 were set to Argininemia 207800
Review for gene: ARG1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures reported in at least three unrelated cases carrying different variants.
Sources: Literature
Non-syndromic familial congenital anorectal malformations v0.63 GLI3 Eleanor Williams commented on gene: GLI3: This gene is associated with Pallister-Hall syndrome in OMIM. Anorectal malformations is one of the phenotypes observed in this syndrome. 2 families have been reported with Pallister-Hall syndrome (PMID: 9054938; 10945658] and a variant in GLI3. Both families report some individuals with anorectal malformations. Stoll et al. (2001) (PMID: 11693785) described a patient considered to have Pallister-Hall syndrome in whom they could not identify a mutation in the GLI3 gene. A mutation was found in the GLI1 gene. Other cases of GLI3 variants in Pallister-Hall syndrome patients have been found but not always with reports of the anorectal malformation phenotype e.g. PMID: 21108399; 29204208.
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Marked gene: CC2D2A as ready
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for all of the associated phenotypes. At least 8 variants reported in unrelated cases of Joubert syndrome 9 612285 and one case of COACH syndrome 216360 displaying seizures as part of the overall phenotype.
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Classified gene: CC2D2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.467 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
Early onset or syndromic epilepsy v0.466 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
Early onset or syndromic epilepsy v0.465 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to
Early onset or syndromic epilepsy v0.464 CC2D2A Sarah Leigh Added comment: Comment on phenotypes: Variants also reported in Meckel syndrome 6 612284
Early onset or syndromic epilepsy v0.464 CC2D2A Sarah Leigh Phenotypes for gene: CC2D2A were changed from to COACH syndrome 216360; Joubert syndrome 9 612285
Early onset or syndromic epilepsy v0.463 CC2D2A Sarah Leigh Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.63 MNX1 Eleanor Williams Phenotypes for gene: MNX1 were changed from anorectal malformation to anorectal malformation; Currarino syndrome 176450
Non-syndromic familial congenital anorectal malformations v0.62 MNX1 Eleanor Williams Publications for gene: MNX1 were set to
Non-syndromic familial congenital anorectal malformations v0.61 MNX1 Eleanor Williams Mode of inheritance for gene: MNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Classified gene: MNX1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Added comment: Comment on list classification: Sufficient cases with a plausible disease causing variant found. Anorectal malformations is a dominant phenotype for Currarino syndrome.
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Gene: mnx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.59 MNX1 Eleanor Williams edited their review of gene: MNX1: Changed publications: 10631160, 10749657, 11528505, 15216552, 16906559; Changed phenotypes: Currarino syndrome 176450
Non-syndromic familial congenital anorectal malformations v0.59 MNX1 Eleanor Williams commented on gene: MNX1: This gene is associated with Currarino syndrome in OMIM. Currarino syndrome is associated with partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation. Mutations in MNX1 (formerly HLXB9) have been found in more than 3 cases of patients with Currarino syndrome (PMID: 10631160; 10749657; 11528505; 15216552;16906559]). A familial pattern of monoallelic inheritance is seen. Although there is a broad spectrum of phenotypes seem anorectal malformations appears to be a frequently observed phenotype.
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Marked gene: SLC1A4 as ready
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Single variant originally only recorded in cases with Ashkenazi Jewish heritage, this variant and at least two others have now been reported in additional unrelated cases from other populations.
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Gene: slc1a4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Classified gene: SLC1A4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.462 SLC1A4 Sarah Leigh Gene: slc1a4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.461 SLC1A4 Sarah Leigh Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Marked gene: RORA as ready
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in unrelated cases.
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Gene: rora has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Classified gene: RORA as Green List (high evidence)
Early onset or syndromic epilepsy v0.460 RORA Sarah Leigh Gene: rora has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Marked gene: PACS1 as ready
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 19 reports of a single de novo variant recorded.
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493; 23159249
Early onset or syndromic epilepsy v0.458 PACS1 Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493
Early onset or syndromic epilepsy v0.457 PACS1 Sarah Leigh Classified gene: PACS1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.457 PACS1 Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.59 SALL1 Eleanor Williams commented on gene: SALL1: This gene is associated with Townes-Brocks syndrome in OMIM. The syndrome is characterised by the triad of imperforate anus, dysplastic ears, and thumb malformations. More than three cases of families with Townes-Brocks syndrome and a mutation in the SALL1 gene have been reported. However, not all cases present with anorectal malformations. Cases reported that do present with ARM include those reported by Liberalesso et al 2017 (PMID: 29110636), Kosaki et al 2007 (PMID: 17431915) and Lin et al (2016) (PMID: 27073431).
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Marked gene: LNPK as ready
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 homozygous variants identified in 2 unrelated cases.
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Gene: lnpk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Classified gene: LNPK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.456 LNPK Sarah Leigh Gene: lnpk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.455 LNPK Sarah Leigh Tag watchlist tag was added to gene: LNPK.
Early onset or syndromic epilepsy v0.455 LNPK Sarah Leigh Phenotypes for gene: LNPK were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Hypoplasia of the corpus callosum; Abnormality of the cerebellum to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090
Early onset or syndromic epilepsy v0.454 IRF2BPL Sarah Leigh Phenotypes for gene: IRF2BPL were changed from Global developmental delay; Developmental regression; Seizures; Ataxia to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Marked gene: IRF2BPL as ready
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. More than 10 truncating variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.59 SALL1 Eleanor Williams gene: SALL1 was added
gene: SALL1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Literature
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome 1 107480
Review for gene: SALL1 was set to AMBER
Added comment: Adding this gene as it is associated with Townes-Brocks syndrome in OMIM. Although patients known to have this syndrome are not covered by the panel, it may be useful to include this gene to cover cases where the syndrome has not been already identified.
Sources: Literature
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Classified gene: IRF2BPL as Green List (high evidence)
Early onset or syndromic epilepsy v0.453 IRF2BPL Sarah Leigh Gene: irf2bpl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Marked gene: GTPBP2 as ready
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants homozygous variants identified in 4 unrelated cases whose phenotype included seizures.
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome 617988
Early onset or syndromic epilepsy v0.451 GTPBP2 Sarah Leigh Classified gene: GTPBP2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.451 GTPBP2 Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence).
Intellectual disability v2.454 GRIA4 Sarah Leigh Classified gene: GRIA4 as Amber List (moderate evidence)
Intellectual disability v2.454 GRIA4 Sarah Leigh Gene: gria4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.453 GRIA4 Sarah Leigh Classified gene: GRIA4 as Amber List (moderate evidence)
Intellectual disability v2.453 GRIA4 Sarah Leigh Gene: gria4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Marked gene: GRIA4 as ready
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Seizures reported in 3/5 unrelated probands carrying monoallelic variants in GRIA4 (PMID 29220673). Mouse model carrying a GRIA4 variant display absence epilepsy (PMID 18316356).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Gene: gria4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.450 GRIA4 Sarah Leigh Publications for gene: GRIA4 were set to 29220673; 25010494
Early onset or syndromic epilepsy v0.449 GRIA4 Sarah Leigh Publications for gene: GRIA4 were set to 29220673
Early onset or syndromic epilepsy v0.448 GRIA4 Sarah Leigh Classified gene: GRIA4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.448 GRIA4 Sarah Leigh Gene: gria4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.447 GRIA4 Sarah Leigh Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities, MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Early onset or syndromic epilepsy v0.446 GRIA4 Sarah Leigh Mode of inheritance for gene: GRIA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.452 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.451 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.450 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.449 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Intellectual disability v2.448 FBXO11 Sarah Leigh Classified gene: FBXO11 as Amber List (moderate evidence)
Intellectual disability v2.448 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.448 FBXO11 Sarah Leigh Classified gene: FBXO11 as Amber List (moderate evidence)
Intellectual disability v2.448 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Marked gene: FBXO11 as ready
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for FBXO11 related intellectual disability. Seizures reported in at least 5 unrelated cases carrying de novo monoallelic FBXO11 variants (PMID: 30057029).
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Classified gene: FBXO11 as Green List (high evidence)
Early onset or syndromic epilepsy v0.445 FBXO11 Sarah Leigh Gene: fbxo11 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.444 FBXO11 Sarah Leigh Publications for gene: FBXO11 were set to 30057029
Early onset or syndromic epilepsy v0.443 FBXO11 Sarah Leigh Added comment: Comment on phenotypes: Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v0.443 FBXO11 Sarah Leigh Phenotypes for gene: FBXO11 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures to Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Marked gene: CUX2 as ready
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Added comment: Comment when marking as ready: No associated with a phenotype in OMIM, but as a probable Gen2Phen gene for developmental epileptic encephalopathy. A single variant has been reported in at least 9 cases, however, at present it is unclear about whether or not the cases are related (the authors of PMID 29630738 have been contacted).
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Gene: cux2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Classified gene: CUX2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.442 CUX2 Sarah Leigh Gene: cux2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.441 CUX2 Sarah Leigh Phenotypes for gene: CUX2 were changed from Seizures; Intellectual disability; Autistic behavior to Seizures; Intellectual disability; Autistic behavior; Developmental epileptic encephalopathy
Early onset or syndromic epilepsy v0.440 CUX2 Sarah Leigh Classified gene: CUX2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.440 CUX2 Sarah Leigh Gene: cux2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Marked gene: ADPRHL2 as ready
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Recent publication reports 6 different variants in affected members of 6 apparently unrelated families. Generalized tonic-clonic seizures were reported in 3/6 families, the seizures were were in response to other illness in one of these families.
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.439 ADPRHL2 Sarah Leigh Publications for gene: ADPRHL2 were set to DOI:https://doi.org/10.1016/j.ajhg.2018.07.010
Early onset or syndromic epilepsy v0.438 ADPRHL2 Sarah Leigh Classified gene: ADPRHL2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.438 ADPRHL2 Sarah Leigh Gene: adprhl2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Added comment: Comment when marking as ready: Seizures are a reported phenotype of MIM:615763, with sufficient cases of seizures for inclusion on panel.
Early onset or syndromic epilepsy v0.437 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Primary lymphoedema v1.28 DCHS1 Anna de Burca Added comment: Comment on publications: 3 homozygous variants in 3 unrelated consanguineous families with Van Maldergem syndrome. Lymphoedema is not a feature of Van Maldergem syndrome but Hennekam lymphoedema can be caused by mutations in FAT4 (the receptor for DHCS1) and this paper also reports variants in FAT4 in Van Maldergem syndrome. PMID: 24913602 states that there is considerable overlap in phenotype between the two conditions.
Primary lymphoedema v1.28 DCHS1 Anna de Burca Publications for gene: DCHS1 were set to
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Marked gene: TUBA1A as ready
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant seizure phenotypes in OMIM, with sufficient (>3) unrelated cases reporting seizures.
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Gene: tuba1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Classified gene: TUBA1A as Green List (high evidence)
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Lissencephaly 3 (611603) which includes seizures in some patients. Seizures are associated with at least three variants in unrelated cases (PMIDs:17218254, 17584854, 18954413, 21403111, 22948023).
Early onset or syndromic epilepsy v0.437 TUBA1A Rebecca Foulger Gene: tuba1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.436 TUBA1A Rebecca Foulger Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.435 TUBA1A Rebecca Foulger Publications for gene: TUBA1A were set to
Early onset or syndromic epilepsy v0.434 TUBA1A Rebecca Foulger Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, 611603
Early onset or syndromic epilepsy v0.433 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to 19896110; 27781032
Early onset or syndromic epilepsy v0.432 TUBA8 Rebecca Foulger commented on gene: TUBA8: Fung et al (PMID:29588952, 2017) selected a cohort of 31 patients with ssiezure crytopgenic NIEE (Epileptic encephalopathy) and seizure onset before 24 months. A compound heterozygous variant of uncertain significance was found in TUBA8 in a patient with severe ID, developmental regression, hypotonia and seizures. Unlike in the 2009 paper (PMID:19896110), no malformation of cortical development was seen.
Early onset or syndromic epilepsy v0.432 TUBA8 Rebecca Foulger commented on gene: TUBA8: 4 patients with 'Cortical dysplasia, complex, with other brain malformations 8, MIM:613180' were reported by Abdollahi et al. (2009, PMID:19896110). The 4 children come from 2 unrelated consanguineous Pakistani families, and all 4 children presented with seizures (infantile spasms or Tonic clonic).
Early onset or syndromic epilepsy v0.432 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to
Early onset or syndromic epilepsy v0.431 TUBA8 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by G2P, OMIM and literature (PMID:19896110).
Early onset or syndromic epilepsy v0.431 TUBA8 Rebecca Foulger Mode of inheritance for gene: TUBA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.430 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, 613180
Malformations of cortical development v1.156 TUBB Rebecca Foulger Classified gene: TUBB as Green List (high evidence)
Malformations of cortical development v1.156 TUBB Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following reassessment of evidence as suggested by Helen Brittain, TUBB is a confirmed Gene2Phenotype gene for cortical dysplasia disorder (MIM:615771). Plus 3 unrelated cases from the literature (PMID:23246003).
Malformations of cortical development v1.156 TUBB Rebecca Foulger Gene: tubb has been classified as Green List (High Evidence).
Malformations of cortical development v1.155 TUBB Rebecca Foulger commented on gene: TUBB: In 3 unrelated children of different ethnicities with complex cortical dysplasia with other brain malformations-6 (MIM:615771) and microcephaly, Breuss et al. (2012, PMID:23246003) identified 3 different de novo heterozygous missense variants in the TUBB gene.
Malformations of cortical development v1.155 TUBB Rebecca Foulger Publications for gene: TUBB were set to 27010057, 23246003; 30016746
Malformations of cortical development v1.154 TUBB Rebecca Foulger Added comment: Comment on publications: TUBB is called TUBB5 in some literature (e.g. PMID:23246003).
Malformations of cortical development v1.154 TUBB Rebecca Foulger Publications for gene: TUBB were set to 27010057, 23246003
Malformations of cortical development v1.153 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from Cortical dysplasia, complex, with other brain malformations 6 to Cortical dysplasia, complex, with other brain malformations 6, 615771
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Marked gene: TUBB as ready
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Added comment: Comment when marking as ready: Amber rating appropriate based on current reported phenotypes. Require additional seizure evidence before rating as Green.
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Gene: tubb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Tag watchlist tag was added to gene: TUBB.
Early onset or syndromic epilepsy v0.429 TUBB Rebecca Foulger Mode of inheritance for gene: TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Classified gene: TUBB as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Added comment: Comment on list classification: ALthough TUBB has a Green expert review, have kept rating as Amber on phenotypic grounds, following advice from Helen Brittain. Seizures are not listed in the clinical synopsis for this particular cortical malformation disorder (MIM:615771), and although variants in other tubulin genes are linked to seizures, according to PMID:25008804 (2015), mutations in the TUBB gene have been described in three unrelated cases, none showing epilepsy.
Early onset or syndromic epilepsy v0.428 TUBB Rebecca Foulger Gene: tubb has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Classified gene: TUBB2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain: 3 unrelated cases from literature. Although not all with the genotype may develop seizures, there are sufficient cases of the epilepsy phenotype for inclusion on the panel.
Early onset or syndromic epilepsy v0.427 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Primary lymphoedema v1.27 PTPN14 Rebecca Foulger Classified gene: PTPN14 as Green List (high evidence)
Primary lymphoedema v1.27 PTPN14 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following request from Athina Ververi (GOSH), and advice from Helen Brittain. Green expert review, two literature cases (2010/PMID:20826270 and 2017/Bordbar et al), plus mouse model (PMID:20826270). PTPN14 is on the St. George's hospital Primary Lymphedema Disorders 15 Gene Panel, and it is recorded in literature and from clinical review that variants in PTPN14 are a rare cause of lymphedema.
Primary lymphoedema v1.27 PTPN14 Rebecca Foulger Gene: ptpn14 has been classified as Green List (High Evidence).
Primary lymphoedema v1.26 PTPN14 Rebecca Foulger commented on gene: PTPN14: Au et al (2010, PMID:20826270) provide a mouse model of PTPN14 deficiency where 14% of mutant animals showed swelling of limb extremeties.
Pancreatitis v0.19 CPA1 Eleanor Williams Tag watchlist tag was added to gene: CPA1.
Pancreatitis v0.19 CPA1 Eleanor Williams Classified gene: CPA1 as Amber List (moderate evidence)
Pancreatitis v0.19 CPA1 Eleanor Williams Added comment: Comment on list classification: Rating Amber on advice from Genomics England clinical team.
Pancreatitis v0.19 CPA1 Eleanor Williams Gene: cpa1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 RAC2 Louise Daugherty commented on gene: RAC2: Zornitza Stark (VCGS) , pers. comm. notes 2 families/functional evidence and rates the gene Green. However, there is only a single variant reported and confirmed in the literature NM_002872.4(RAC2):c.169G>A (p.Asp57Asn) that result in Neutrophil immunodeficiency syndrome. There is a second variant reported in clinvar by a Invitae, but although the phenotype is attributed to Neutrophil immunodeficiency syndrome, the affected status of the patient is described as 'unknown', so it was decided to keep this gene Amber until more robust evidence is published to support gene-disease relationship
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 RAC2 Louise Daugherty commented on gene: RAC2: PMID: 10961859 reported functional studies demonstrating that the D57N mutant behaves in a dominant-negative fashion at the cellular level.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 FCN3 Louise Daugherty edited their review of gene: FCN3: Added comment: Zornitza Stark (VCGS) , pers. comm. notes there are multiple cases reported, but single variant, and rates the gene Green. However, as highlighted by previous expert review it is not suitable for straightforward diagnostic reporting process, futher evidence is needed since the consequences of FCN3 deficiency do not seem to be not clear-cut, and it has been suggested that it may act as a disease modifier.; Changed rating: RED
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 CD247 Louise Daugherty commented on gene: CD247: Internal clinical team agree there is difficulty of distinguishing whether these are separate cases. As this gene has been reviewed recently with an immunology expert it was decided to keep this gene Amber until further less ambiguous evidence is published
Primary immunodeficiency or monogenic inflammatory bowel disease v1.19 CARD14 Louise Daugherty Phenotypes for gene: CARD14 were changed from CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders to CARD14 mediated psoriasis; Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect; Psoriasis; Autoinflammatory Disorders; immune dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.18 CARD14 Louise Daugherty commented on gene: CARD14: Additional external review added so this gene was reviewed again. Pathogenic variants in CARD14 results in a monogenic autoinflammatory disease, however the the clinical manifestation is dermatological rather than immunological presentation. This gene will remain as Amber on this panel, as it is rated Green on the generalised pustular psoriasis panel
Generalised pustular psoriasis v1.8 CARD14 Louise Daugherty Phenotypes for gene: CARD14 were changed from CARD14 mediated psoriasis Psoriasis 2, 602723 Pityriasis rubra pilaris,173200 Other autoinflammatory diseases with known genetic defect to CARD14 mediated psoriasis Psoriasis 2, 602723; Pityriasis rubra pilaris,173200; Other autoinflammatory diseases with known genetic defect
Primary immunodeficiency or monogenic inflammatory bowel disease v1.18 CARD14 Louise Daugherty Publications for gene: CARD14 were set to 23648549; 22521418; 22703878; 23067081; 29704870; 29689250
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 FCGR3A Louise Daugherty commented on gene: FCGR3A: Additional external review added so this gene was reviewed again. Agree to keep this gene Amber until further evidence, especially noted high population frequency, including homozygotes in ExAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Classified gene: RIPK1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.17 RIPK1 Louise Daugherty Gene: ripk1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty edited their review of gene: RIPK1: Added comment: From OMIM : Lourenco et al. (2018) PMID: 30026316 reports 4 patients from 3 unrelated consanguineous families with immunodeficiency-57 identifying homozygous loss-of-function mutations in the RIPK1 gene. The variants segregated with the disorder in the families and were not found in the gnomAD database. Functional studies of patient cells showed impaired mitogen-activated protein kinase activation, impaired phosphorylation of downstream signaling molecules, impaired proinflammatory signaling downstream of TNFR1 and TLR3 and defective secretion of certain cytokines. Similar results were observed in vitro in a monocyte-like cell line with CRISPR/Cas9-mediated knockdown of RAPK1. The findings indicated that RIPK1 plays a critical role in the human immune system.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.16 RIPK1 Louise Daugherty Phenotypes for gene: RIPK1 were changed from Severe immunodeficiency, arthritis, and intestinal inflammation to Immunodeficiency 57, 618108; Severe immunodeficiency, arthritis, and intestinal inflammation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.15 RIPK1 Louise Daugherty Added comment: Comment on publications: PMID:30026316 reported four patients from three unrelated families with complete RIPK1deficiency caused by rare homozygous mutations. The patients suffered from recurrent infections, early-onset inflammatory bowel disease, and progressive polyarthritis.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.15 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v1.14 RIPK1 Louise Daugherty Added comment: Comment on publications: DOI: 10.1126/science.aar2641 = PMID: 30026316
Primary immunodeficiency or monogenic inflammatory bowel disease v1.14 RIPK1 Louise Daugherty Publications for gene: RIPK1 were set to DOI: 10.1126/science.aar2641, no PMID yet
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Classified gene: RASGRP1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Added comment: Comment on list classification: Changed status from Red to Green from external review and reference to two recent publications, Somekh I et al., PMID: 30030704 (2018) and Winter S et al., PMID: 29282224, there are more than three unrelated families described with immunodeficiency phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.13 RASGRP1 Louise Daugherty Gene: rasgrp1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.12 RASGRP1 Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by external reviewer
Primary immunodeficiency or monogenic inflammatory bowel disease v1.12 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency,
Primary immunodeficiency or monogenic inflammatory bowel disease v1.11 RASGRP1 Louise Daugherty Added comment: Comment on publications: Added publications suggested by external reviewer to support upgrading of the gene to Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.11 RASGRP1 Louise Daugherty Publications for gene: RASGRP1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.10 RASGRP1 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by external reviewer and from publications
Primary immunodeficiency or monogenic inflammatory bowel disease v1.10 RASGRP1 Louise Daugherty Mode of inheritance for gene: RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 TNFRSF13B Louise Daugherty edited their review of gene: TNFRSF13B: Added comment: Additional external review this gene was reviewed again. Decided to keep Red on this panel, as we currently do not report contributory variants of a disorder, only causative.; Changed rating: RED
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 CD247 Louise Daugherty commented on gene: CD247: Additional external review this gene was reviewed again. There are two pathogenic germline variants in Clinvar, the first NM_198053.2(CD247):c.301C>T (p.Gln101Ter) pathogenic variant is the same variant reported in PMID:16672702. However, it is not clear if this is strong enough evidence for three unrelated cases, as there is not a clear indication based on the information supplied to ClinVar wether these are two different cases, or are the same.
To be referred to clinical team again, in view of green review (pers. comm with Zornitza Stark, VCGS) in addition to comment below.
1) NM_198053.2(CD247):c.301C>T (p.Gln101Ter) reported from GeneDx clinical lab, no disorder associated but is the same pathogenic variant as reported in PMID:16672702
2) NM_198053.2(CD247):c.51dup (p.Ile18Aspfs) which is associated to Immunodeficiency due to defect in cd3-zeta reported from Invitae clinical lab
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Classified gene: SMAD4 as Green List (high evidence)
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.144 SMAD4 Louise Daugherty Gene: smad4 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.143 SMAD4 Louise Daugherty gene: SMAD4 was added
gene: SMAD4 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Bleeding disorder
Review for gene: SMAD4 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.142 ENG Louise Daugherty Classified gene: ENG as Green List (high evidence)
Inherited bleeding disorders v1.142 ENG Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.142 ENG Louise Daugherty Gene: eng has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.141 ENG Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green
Inherited bleeding disorders v1.141 ENG Louise Daugherty Publications for gene: ENG were set to 9245986
Early onset or syndromic epilepsy v0.426 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, 615771
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Marked gene: TUBB2B as ready
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three variants in unrelated cases (PMIDs:19465910 and 22333901).
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Classified gene: TUBB2B as Green List (high evidence)
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: >3 patients with heterozygous TUBB2B variants exhibited seizures as part of brain malformation disorder.
Early onset or syndromic epilepsy v0.425 TUBB2B Rebecca Foulger Gene: tubb2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.424 TUBB2B Rebecca Foulger Publications for gene: TUBB2B were set to
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger commented on gene: TUBB2B
Early onset or syndromic epilepsy v0.423 TUBB2B Rebecca Foulger Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.422 TUBB2B Rebecca Foulger Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, 610031
Early onset or syndromic epilepsy v0.421 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 24702957; 25326637
Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5, 615763; infantile-onset epilepsy
Added comment: TUBB2A added to panel based on PMID:24702957 (2014), which describes two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morphology harbouring de novo variants in TUBB2A. A third patient is reported in the large-scale study PMID:25326637 (2014); an infant with DD, seizures, perisylvian polymicrogyria and micropcephaly with a de novo missense variant in TUBB2A.
Sources: Literature
Early onset or syndromic epilepsy v0.420 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227; 26130693
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Marked gene: TUBB3 as ready
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM, and seizures associated with at least three unrelated cases (see PMID:25008804).
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Classified gene: TUBB3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus at least 3 patients with TUBB3 variants showing seizures.
Early onset or syndromic epilepsy v0.419 TUBB3 Rebecca Foulger Gene: tubb3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger commented on gene: TUBB3
Early onset or syndromic epilepsy v0.418 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to 20829227
Inherited bleeding disorders v1.140 ENG Louise Daugherty Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1, 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Bleeding disorder
Inherited bleeding disorders v1.139 ENG Louise Daugherty gene: ENG was added
gene: ENG was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 9245986
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300
Review for gene: ENG was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Early onset or syndromic epilepsy v0.417 TUBB3 Rebecca Foulger Publications for gene: TUBB3 were set to
Early onset or syndromic epilepsy v0.416 TUBB3 Rebecca Foulger Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.415 TUBB3 Rebecca Foulger Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, 614039
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Classified gene: ACVRL1 as Green List (high evidence)
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.138 ACVRL1 Louise Daugherty Gene: acvrl1 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.137 ACVRL1 Louise Daugherty Publications for gene: ACVRL1 were set to 29923633; 8640225; 30177223; 16155196; 14684682
Inherited bleeding disorders v1.136 ACVRL1 Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green. More than three unrelated cases in a range of ethnicities has been reported for HHT type 2
Inherited bleeding disorders v1.136 ACVRL1 Louise Daugherty Publications for gene: ACVRL1 were set to 8640225
Early onset dystonia v1.49 HPCA Rebecca Foulger Classified gene: HPCA as Green List (high evidence)
Early onset dystonia v1.49 HPCA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Gene added to panel by Zornitza Stark. 1 Green expert review (by Zornitza) plus 4 unrelated cases in literature supporting variants in HPCA causing AR dystonia. Note that HPCA variants are a rare cause of AR dystonia.
Early onset dystonia v1.49 HPCA Rebecca Foulger Gene: hpca has been classified as Green List (High Evidence).
Early onset dystonia v1.48 HPCA Rebecca Foulger commented on gene: HPCA: Although two independent studies (PMID:27771228 and PMID:27145302) from 2017 and 2016 failed to support the role of HPCA in pathogenesis of dystonia, this is most likely because HPCA variants represent a rare form of dystonia.
Early onset dystonia v1.48 HPCA Rebecca Foulger commented on gene: HPCA: Atasu et al. 2018 (PMID:30145809) revealed two unlreated consanguineous Turkish families with complex dystonia and novel HPCA variants (p.W103* and p.P10PfsTer80). The first family started to suffer involuntary head movements at age 8 months, and official examination at age 20 revealed dystonia. The second family developed dystonia of lower limbs age 17.
Early onset dystonia v1.48 HPCA Rebecca Foulger commented on gene: HPCA: In 3 siblings (age 61, 57 and 51) from consanguineous Sephardic Hewish family with dystonia (MIM:224500) which presented in their first decade, Charlesworth et al, 2015 (PMID:25799108) identified a homozygous missense variant in HPCA (N75K). Sequencing of HPCA in samples from 150 additional patients with early-onset dystonia (<30 years old) identified compound heterozygous missense variants (T71N and A190T) in a 64 year old woman of Sri Lankan origin with the disorder. The woman reported dystonia onset in her late-teens to early twenties. Her unaffected siblings contained one or both wild-type alleles supporting pathogenicity of the compound heterozygous variants in the affected individual.
Early onset dystonia v1.48 HPCA Rebecca Foulger Phenotypes for gene: HPCA were changed from Dystonia 2, torsion, autosomal recessive, MIM#224500 to Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia; adolescence-onset segmental dystonia; generalized dystonia with additional neurological features
Early onset dystonia v1.47 HPCA Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic mode of inheritance supported by literature (PMID:25799108), and OMIM.
Early onset dystonia v1.47 HPCA Rebecca Foulger Mode of inheritance for gene: HPCA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders v1.135 ACVRL1 Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2, 600376 to Telangiectasia, hereditary hemorrhagic, type 2, 600376; Bleeding disorder
Inherited bleeding disorders v1.134 ACVRL1 Louise Daugherty Added comment: Comment on phenotypes: added the OMIM MIMid
Inherited bleeding disorders v1.134 ACVRL1 Louise Daugherty Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 to Telangiectasia, hereditary hemorrhagic, type 2, 600376
Inherited bleeding disorders v1.133 ACVRL1 Louise Daugherty gene: ACVRL1 was added
gene: ACVRL1 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 8640225
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2
Review for gene: ACVRL1 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.132 SRC Louise Daugherty Classified gene: SRC as Green List (high evidence)
Inherited bleeding disorders v1.132 SRC Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Two cases reported with functional evidence
Inherited bleeding disorders v1.132 SRC Louise Daugherty Gene: src has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.131 SRC Louise Daugherty edited their review of gene: SRC: Added comment: Gain of function reported; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited bleeding disorders v1.131 SRC Louise Daugherty edited their review of gene: SRC: Added comment: From NIHRRD-BR BRIDGE project, report of a second case with de novo variant plus functional data.; Changed rating: GREEN
Inherited bleeding disorders v1.131 SRC Louise Daugherty Phenotypes for gene: SRC were changed from Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937 to Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937; Platelet disorder
Intellectual disability v2.447 CDC42 Louise Daugherty Classified gene: CDC42 as Green List (high evidence)
Intellectual disability v2.447 CDC42 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert review, who notes that there are 17 unrelated individuals with de novo variants in this gene reported in the literature to date, ID is part of the phenotype. There are enough publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.447 CDC42 Louise Daugherty Gene: cdc42 has been classified as Green List (High Evidence).
Intellectual disability v2.446 CDC42 Louise Daugherty Publications for gene: CDC42 were set to 26386261, 26708094, 29394990
Intellectual disability v2.445 CDC42 Louise Daugherty Phenotypes for gene: CDC42 were changed from Takenouchi-Kosaki syndrome to Takenouchi-Kosaki syndrome, 616737; Intellectual disability
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Tag de novo tag was added to gene: CDC42.
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Classified gene: CDC42 as Green List (high evidence)
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence in the literature to support gene-disease association and relevance to this panel to rate this gene Green. At least 17 unrelated individuals with de novo variants have been reported in the literature
Inherited bleeding disorders v1.130 CDC42 Louise Daugherty Gene: cdc42 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.129 KLKB1 Louise Daugherty Phenotypes for gene: KLKB1 were changed from Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome; Coagulation disorder
Inherited bleeding disorders v1.128 GBA Louise Daugherty edited their review of gene: GBA: Changed phenotypes: Gaucher disease, Gaucher disease, perinatal lethal, 608013, Gaucher disease, type I, 230800, Gaucher disease, type II,230800, Gaucher disease, type III, 230800, Gaucher disease, type IIIC, 231005, Platelet disorder
Inherited bleeding disorders v1.128 CDC42 Louise Daugherty Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, 616737; Platelet disorder
Inherited bleeding disorders v1.127 CDC42 Louise Daugherty Added comment: Comment on publications: Added publications suggested to support upgrading of the gene to Green
Inherited bleeding disorders v1.127 CDC42 Louise Daugherty Publications for gene: CDC42 were set to
Inherited bleeding disorders v1.126 CDC42 Louise Daugherty gene: CDC42 was added
gene: CDC42 was added to Inherited bleeding disorders. Sources: Expert list,Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: CDC42 was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list, Literature
Proteinuric renal disease v1.11 CRB2 John Sayer gene: CRB2 was added
gene: CRB2 was added to Proteinuric renal disease. Sources: Literature
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557779; 27942854
Phenotypes for gene: CRB2 were set to steroid resistant nephrotic syndrome
Penetrance for gene: CRB2 were set to Complete
Review for gene: CRB2 was set to GREEN
Added comment: Sources: Literature
Proteinuric renal disease v1.11 EMP2 John Sayer gene: EMP2 was added
gene: EMP2 was added to Proteinuric renal disease. Sources: Literature
Mode of inheritance for gene: EMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMP2 were set to 24814193
Phenotypes for gene: EMP2 were set to steroid sensitive nephrotic syndrome
Penetrance for gene: EMP2 were set to Complete
Review for gene: EMP2 was set to GREEN
Added comment: Sources: Literature
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Classified gene: TTC7A as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.57 TTC7A Eleanor Williams commented on gene: TTC7A
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Classified gene: RFX6 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Gene: rfx6 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.56 RFX6 Eleanor Williams commented on gene: RFX6
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Classified gene: FAM58A as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Gene: fam58a has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.55 FAM58A Eleanor Williams commented on gene: FAM58A: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.55 ZIC3 Eleanor Williams commented on gene: ZIC3: Gene is on expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Classified gene: CASK as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Deleted their comment
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Classified gene: CASK as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Gene: cask has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.53 CASK Eleanor Williams commented on gene: CASK
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Classified gene: MED12 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Added comment: Comment on list classification: Rated gene amber as is on expert list
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Gene: med12 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.52 MED12 Eleanor Williams commented on gene: MED12
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Classified gene: GLI3 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Added comment: Comment on list classification: Rated as Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Gene: gli3 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.51 GLI3 Eleanor Williams commented on gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Classified gene: MNX1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Added comment: Comment on list classification: Rating as Amber as on expert list.
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Gene: mnx1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.50 MNX1 Eleanor Williams commented on gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.50 FANCB Eleanor Williams commented on gene: FANCB: Gene is on expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Classified gene: FOXF1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Added comment: Comment on list classification: Rating Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.49 FOXF1 Eleanor Williams commented on gene: FOXF1: Gene added from expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Added comment: Comment on list classification: Rating amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.48 MYCN Eleanor Williams commented on gene: MYCN
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams commented on gene: FAM58A
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams Tag new-gene-name tag was added to gene: FAM58A.
Non-syndromic familial congenital anorectal malformations v0.48 TTC7A Eleanor Williams Added phenotypes anorectal malformation for gene: TTC7A
Non-syndromic familial congenital anorectal malformations v0.48 RFX6 Eleanor Williams Added phenotypes anorectal malformation for gene: RFX6
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams gene: FAM58A was added
gene: FAM58A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: FAM58A was set to
Phenotypes for gene: FAM58A were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.48 ZIC3 Eleanor Williams Added phenotypes anorectal malformation for gene: ZIC3
Non-syndromic familial congenital anorectal malformations v0.48 CASK Eleanor Williams Added phenotypes anorectal malformation for gene: CASK
Non-syndromic familial congenital anorectal malformations v0.48 MED12 Eleanor Williams Added phenotypes anorectal malformation for gene: MED12
Non-syndromic familial congenital anorectal malformations v0.48 GLI3 Eleanor Williams Added phenotypes anorectal malformation for gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.48 MNX1 Eleanor Williams Added phenotypes anorectal malformation for gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.48 FANCB Eleanor Williams Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations v0.48 FOXF1 Eleanor Williams Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations v0.48 MYCN Eleanor Williams Added phenotypes anorectal malformation for gene: MYCN
Non-syndromic familial congenital anorectal malformations v0.47 TTC7A Eleanor Williams gene: TTC7A was added
gene: TTC7A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: TTC7A was set to
Phenotypes for gene: TTC7A were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 RFX6 Eleanor Williams gene: RFX6 was added
gene: RFX6 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: RFX6 was set to
Phenotypes for gene: RFX6 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 ZIC3 Eleanor Williams Source Expert list was added to ZIC3.
Added phenotypes anorectal malformation for gene: ZIC3
Non-syndromic familial congenital anorectal malformations v0.47 CASK Eleanor Williams gene: CASK was added
gene: CASK was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: CASK was set to
Phenotypes for gene: CASK were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 MED12 Eleanor Williams gene: MED12 was added
gene: MED12 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MED12 was set to
Phenotypes for gene: MED12 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 GLI3 Eleanor Williams gene: GLI3 was added
gene: GLI3 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: GLI3 was set to
Phenotypes for gene: GLI3 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 MNX1 Eleanor Williams gene: MNX1 was added
gene: MNX1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MNX1 was set to
Phenotypes for gene: MNX1 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 FANCB Eleanor Williams Source Expert list was added to FANCB.
Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations v0.47 FOXF1 Eleanor Williams Source Expert list was added to FOXF1.
Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations v0.47 MYCN Eleanor Williams gene: MYCN was added
gene: MYCN was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MYCN was set to
Phenotypes for gene: MYCN were set to anorectal malformation
Monogenic hearing loss v1.43 FOXI1 Ellen McDonagh commented on gene: FOXI1: A new publication reporting on three families with early-onset sensorineural deafness and distal renal tubular acidosis.
Monogenic hearing loss v1.43 FOXI1 Ellen McDonagh Publications for gene: FOXI1 were set to PMID:12642503; 15173882; 16932748; 17503324; 7957066; 8825632; 9843211
Monogenic hearing loss v1.42 FOXI1 Ellen McDonagh Added comment: Comment on mode of inheritance: See PMID: 29242249
Monogenic hearing loss v1.42 FOXI1 Ellen McDonagh Mode of inheritance for gene: FOXI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.8 XPR1 Ellen McDonagh Classified gene: XPR1 as Red List (low evidence)
Renal tubulopathies v1.8 XPR1 Ellen McDonagh Added comment: Comment on list classification: Gene added to this panel by a Reviewer. Made red due to this being a novel gene.
Renal tubulopathies v1.8 XPR1 Ellen McDonagh Gene: xpr1 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.7 FOXI1 Ellen McDonagh Added comment: Comment on mode of inheritance: Homozygous variants were reported in PMID: 29242249.
Renal tubulopathies v1.7 FOXI1 Ellen McDonagh Mode of inheritance for gene: FOXI1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies v1.6 FOXI1 Ellen McDonagh Classified gene: FOXI1 as Amber List (moderate evidence)
Renal tubulopathies v1.6 FOXI1 Ellen McDonagh Added comment: Comment on list classification: Gene add to the panel by Reviewer due to new publication reporting three families. Promoted to amber, awaiting Genomics England Clinical Team approval before making Green.
Renal tubulopathies v1.6 FOXI1 Ellen McDonagh Gene: foxi1 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.125 PIGA Louise Daugherty edited their review of gene: PIGA: Changed rating: AMBER
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Classified gene: PIGA as Red List (low evidence)
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Added comment: Comment on list classification: This is a disease modifier gene. Somatic variants cause Paroxysmal nocturnal haemoglobinuria.
Inherited bleeding disorders v1.125 PIGA Louise Daugherty Gene: piga has been classified as Red List (Low Evidence).
Inherited bleeding disorders v1.124 PIGA Louise Daugherty edited their review of gene: PIGA: Changed rating: GREEN
Inherited bleeding disorders v1.124 PIGA Louise Daugherty Classified gene: PIGA as Amber List (moderate evidence)
Inherited bleeding disorders v1.124 PIGA Louise Daugherty Gene: piga has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.123 PIGA Louise Daugherty Publications for gene: PIGA were set to
Inherited bleeding disorders v1.122 PIGA Louise Daugherty Tag treatable tag was added to gene: PIGA.
Tag somatic tag was added to gene: PIGA.
Inherited bleeding disorders v1.122 PIGA Louise Daugherty gene: PIGA was added
gene: PIGA was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Paroxysmal nocturnal haemoglobinuria, somatic, 300818
Review for gene: PIGA was set to AMBER
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Inherited bleeding disorders v1.121 GBA Louise Daugherty Classified gene: GBA as Green List (high evidence)
Inherited bleeding disorders v1.121 GBA Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.121 GBA Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.120 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA were set to 15813845
Phenotypes for gene: GBA were set to Gaucher disease; Gaucher disease, perinatal lethal, 608013; Gaucher disease, type I, 230800; Gaucher disease, type II,230800; Gaucher disease, type III, 230800; Gaucher disease, type IIIC, 231005
Review for gene: GBA was set to GREEN
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Skeletal dysplasia v1.122 BMP2 Eleanor Williams commented on gene: BMP2: More than 3 families/cases reported in PMID: 29198724 for monoallelic variants in this gene and Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.
Skeletal dysplasia v1.122 BMP2 Eleanor Williams Publications for gene: BMP2 were set to 19327734; 21357617
Skeletal dysplasia v1.121 BMP2 Eleanor Williams Classified gene: BMP2 as Green List (high evidence)
Skeletal dysplasia v1.121 BMP2 Eleanor Williams Added comment: Comment on list classification: Rating green based on publication (PMID: 29198724) reporting sufficient cases associated with a relevant phenotype. Rating has been checked with Genomics England clinical team.
Skeletal dysplasia v1.121 BMP2 Eleanor Williams Gene: bmp2 has been classified as Green List (High Evidence).
Limb disorders v0.172 BMP2 Eleanor Williams Classified gene: BMP2 as Green List (high evidence)
Limb disorders v0.172 BMP2 Eleanor Williams Added comment: Comment on list classification: Rating as green as publication PMID:29198724 reports sufficient cases associated with a relevant phenotype to reach a green rating for SNVs. The skeletal features include phalangeal anomalies. Rating has been checked with the Genomics England clinical team.
Limb disorders v0.172 BMP2 Eleanor Williams Gene: bmp2 has been classified as Green List (High Evidence).
Limb disorders v0.171 BMP2 Eleanor Williams Tag cnv tag was added to gene: BMP2.
Primary lymphoedema v1.26 DCHS1 Rebecca Foulger gene: DCHS1 was added
gene: DCHS1 was added to Lymphatic Disorders. Sources: UKGTN
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390
Added comment: Added DCHS1 to panel as requested by Athina Ververi at GOSH, because DCHS1 is on the St. George's lymphoedema 15-gene panel (September 2017). DCHS1 is a ligand for FAT4 (Green gene on this panel), and current evidence appears to be biochemical rather than variant case studies so kept rating as Red.
Sources: UKGTN
Primary lymphoedema v1.25 PTPN14 Rebecca Foulger Source UKGTN was added to PTPN14.
Primary lymphoedema v1.24 PTPN14 Rebecca Foulger Tag watchlist tag was added to gene: PTPN14.
Primary lymphoedema v1.24 ADAMTS3 Rebecca Foulger Source UKGTN was added to ADAMTS3.
Primary lymphoedema v1.23 ADAMTS3 Rebecca Foulger Classified gene: ADAMTS3 as Red List (low evidence)
Primary lymphoedema v1.23 ADAMTS3 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red as currently insufficient cases for diagnostic grade (1 family in Brouillard et al. 2017).
Primary lymphoedema v1.23 ADAMTS3 Rebecca Foulger Gene: adamts3 has been classified as Red List (Low Evidence).
Primary lymphoedema v1.22 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: Added to panel as requested by Athina Ververi (GOSH) based on presence of ADAMTS3 on the St. George's Primary Lymphedema Disorders 15 Gene Panel.
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Classified gene: KLKB1 as Green List (high evidence)
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Added comment: Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Inherited bleeding disorders v1.119 KLKB1 Louise Daugherty Gene: klkb1 has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.118 KLKB1 Louise Daugherty gene: KLKB1 was added
gene: KLKB1 was added to Inherited bleeding disorders. Sources: Expert list
Mode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLKB1 were set to 17598838; 14652634; 11344577
Phenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, 612423; Fletcher syndrome
Review for gene: KLKB1 was set to GREEN
gene: KLKB1 was marked as current diagnostic
Added comment: New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SCC meeting Dublin 2018.
Sources: Expert list
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 NFAT5 Sarah Leigh Tag watchlist tag was added to gene: NFAT5.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 NFAT5 Sarah Leigh Classified gene: NFAT5 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.9 NFAT5 Sarah Leigh Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.117 ORAI1 Louise Daugherty edited their review of gene: ORAI1: Added comment: Green gene for PID/myopathy but not for BPD (ITP in single patient) reported in NIHRRD-BR BRIDGE project; Changed rating: AMBER
Limb disorders v0.171 ZSWIM6 Sarah Leigh Tag missense tag was added to gene: ZSWIM6.
Limb disorders v0.171 ZSWIM6 Sarah Leigh Mode of pathogenicity for gene: ZSWIM6 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
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Deleted their comment
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Classified gene: TPM4 as Amber List (moderate evidence)
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Added comment: Comment on list classification: Changed from Green to Amber. This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.
Inherited bleeding disorders v1.116 TPM4 Louise Daugherty Gene: tpm4 has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.115 TPM4 Louise Daugherty edited their review of gene: TPM4: Added comment: This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.; Changed rating: AMBER
Intracerebral calcification disorders v1.10 SCN2A Anna de Burca gene: SCN2A was added
gene: SCN2A was added to Intracerebral calcification disorders. Sources: Literature
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN2A were set to PMID:24579881
Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3
Review for gene: SCN2A was set to RED
Added comment: Variants in SCN2A are associated with a range of phenotypes from benign infantile seizures to early infantile epileptic encephalopathy. Intracerebral calcification has been noted in one case in the literature (PMID:24579881) and I have encountered a second case in my clinical practice.
Sources: Literature
Intellectual disability v2.444 DCHS1 Rebecca Foulger Source Other was added to DCHS1.
Phenotypes for gene: DCHS1 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; Van Maldergem syndrome 1, 601390
Rare multisystem ciliopathy disorders v1.48 NEK8 Penny Clouston reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 23418306, 26967905, 26697755, 26862157; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.22 ADAMTS3 Rebecca Foulger Publications for gene: ADAMTS3 were set to 28985353; 28687807
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: Mouse model for role of ADAMTS3 in lymphatic development is reported in PMID:26446156 (2016), with knockout mice exhibiting a massive lymphedema.
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3: PMID:28687807 (Jha et al., 2017) test a R565Q missense substitution in ADAMTS3 which was originally identified as a rare heterozygous polymoprhism in a lymphedema patient and in 6 unaffected members of the studied family as well as in 236 alleles in ExAC.
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger commented on gene: ADAMTS3
Primary lymphoedema v1.21 ADAMTS3 Rebecca Foulger gene: ADAMTS3 was added
gene: ADAMTS3 was added to Lymphatic Disorders. Sources: Other
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 28985353; 28687807
Phenotypes for gene: ADAMTS3 were set to Hennekam syndrome; Hennekam lymphangiectasia-lymphedema syndrome 3
Early onset or syndromic epilepsy v0.414 ISCA-46290-Gain Louise Daugherty Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194
Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801
Intellectual disability v2.443 ISCA-46290-Gain Louise Daugherty Region: ISCA-46290-Gain was added
Region: ISCA-46290-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194
Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801
Intellectual disability v2.443 ISCA-37431-Gain Louise Daugherty Region: ISCA-37431-Gain was added
Region: ISCA-37431-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37431-Gain were set to 25205021; 22241097; 18183042
Phenotypes for Region: ISCA-37431-Gain were set to early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism; Chromosome 17q11.2 deletion syndrome, 1.4Mb; DD/ID, facial dysmorphisms, and seizures
Familial Tumours Syndromes of the central & peripheral Nervous system v1.8 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Familial Tumours Syndromes of the central & peripheral Nervous system. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
RASopathies v1.27 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to RASopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Neurofibromatosis Type 1 v1.25 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Neurofibromatosis Type 1. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Intellectual disability v2.443 ISCA-37431-Loss Louise Daugherty Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Primary lymphoedema v1.20 PTPN14 Rebecca Foulger commented on gene: PTPN14: Bordbar et al (2017, https://www.sciencedirect.com/science/article/pii/S2214540017300543) report an Iranian family with a single child with bilateral choanal atresia and infantile-onset lymphedema. Screening of PTPN14 revealed a novel homozygous frameshift insertion in exon4 (p.(Leu135Tyrfs*5). This forms the second reported family with choanal atresia and lymphedema syndrome.
Primary lymphoedema v1.20 PTPN14 Rebecca Foulger Publications for gene PTPN14 were changed from 20826270 to 20826270; 24167460
Primary lymphoedema v1.19 PTPN14 Rebecca Foulger commented on gene: PTPN14
Rare multisystem ciliopathy disorders v1.48 IFT43 Penny Clouston reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 21378380, 28400947, 29896747; Phenotypes: short rib polydactyly, Sensenbrenner syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.48 GLIS2 Penny Clouston reviewed gene: GLIS2: Rating: RED; Mode of pathogenicity: None; Publications: 23559409, 17618285, 26374130; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.442 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability v2.442 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene
Intellectual disability v2.442 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.442 C12orf4 Louise Daugherty Classified gene: C12orf4 as Green List (high evidence)
Intellectual disability v2.442 C12orf4 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Intellectual disability v2.442 C12orf4 Louise Daugherty Gene: c12orf4 has been classified as Green List (High Evidence).
Intellectual disability v2.441 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Intellectual disability v2.441 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene.
Intellectual disability v2.441 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.441 C12orf4 Louise Daugherty Classified gene: C12orf4 as Green List (high evidence)
Intellectual disability v2.441 C12orf4 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Intellectual disability v2.441 C12orf4 Louise Daugherty Gene: c12orf4 has been classified as Green List (High Evidence).
Intellectual disability v2.440 C12orf4 Louise Daugherty Publications for gene: C12orf4 were set to 27311568, 25558065
Intellectual disability v2.439 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from Autosomal recessive intellectual disability; Attention deficit hyperactivity disorder; Muscular hypotonia to Autosomal recessive intellectual disability, Attention deficit hyperactivity disorder, Muscular hypotonia
Intellectual disability v2.439 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from Autosomal recessive intellectual disability to Autosomal recessive intellectual disability; Attention deficit hyperactivity disorder; Muscular hypotonia
Intellectual disability v2.438 C12orf4 Louise Daugherty Phenotypes for gene: C12orf4 were changed from to Autosomal recessive intellectual disability
Intellectual disability v2.437 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Epileptic encephalopathy, early infantile, 66, 618067; Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebellum to Epileptic encephalopathy, early infantile, 66, 618067
Intellectual disability v2.436 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Intellectual disability v2.435 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.435 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.434 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.434 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.433 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.433 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Intellectual disability v2.432 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Intellectual disability v2.432 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene (PMID 28867141).
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.412 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Early onset or syndromic epilepsy v0.411 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebrum to Epileptic encephalopathy, early infantile, 66, 618067
Intellectual disability v2.431 BRF1 Louise Daugherty Classified gene: BRF1 as Green List (high evidence)
Intellectual disability v2.431 BRF1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.431 BRF1 Louise Daugherty Gene: brf1 has been classified as Green List (High Evidence).
Intellectual disability v2.430 BRF1 Louise Daugherty edited their review of gene: BRF1: Added comment: New gene added by external expert review, who notes that there are 3 unrelated individuals reported in the literature, ID is part of the phenotype.; Changed rating: GREEN
Intellectual disability v2.430 BRF1 Louise Daugherty Added comment: Comment on phenotypes: added MIMid form OMIM
Intellectual disability v2.430 BRF1 Louise Daugherty Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome to Cerebellofaciodental syndrome, 616202; intellectual disability
Rare multisystem ciliopathy disorders v1.48 DCDC2 Penny Clouston reviewed gene: DCDC2: Rating: RED; Mode of pathogenicity: None; Publications: 27469900, 27319779, 25557784; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.429 BPTF Louise Daugherty Classified gene: BPTF as Green List (high evidence)
Intellectual disability v2.429 BPTF Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.429 BPTF Louise Daugherty Gene: bptf has been classified as Green List (High Evidence).
Intellectual disability v2.428 BPTF Louise Daugherty edited their review of gene: BPTF: Added comment: New gene added by external expert. From OMIM; Stankiewicz et al. 2017 (PMID: 28942966) reported 10 unrelated patients, ranging from 2 to 13 years of age, with a similar neurodevelopmental disorder. All patients had delayed psychomotor development and intellectual disability with delayed speech.; Changed rating: GREEN
Intellectual disability v2.428 BPTF Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.428 BPTF Louise Daugherty Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755; intellectual disability
Intellectual disability v2.427 BCKDK Louise Daugherty Classified gene: BCKDK as Green List (high evidence)
Intellectual disability v2.427 BCKDK Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate gene Green.
Intellectual disability v2.427 BCKDK Louise Daugherty Gene: bckdk has been classified as Green List (High Evidence).
Intellectual disability v2.426 BCKDK Louise Daugherty edited their review of gene: BCKDK: Added comment: New gene added by external expert review, who notes that there are multiple unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.; Changed rating: GREEN
Intellectual disability v2.426 BCKDK Louise Daugherty Added comment: Comment on phenotypes: added phenotype and MIMid from OMIM
Intellectual disability v2.426 BCKDK Louise Daugherty Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923; Intellectual disability
Intellectual disability v2.425 BCKDK Louise Daugherty Publications for gene: BCKDK were set to 22956686, 24449431
Intellectual disability v2.424 ARCN1 Louise Daugherty Classified gene: ARCN1 as Green List (high evidence)
Intellectual disability v2.424 ARCN1 Louise Daugherty Added comment: Comment on list classification: New gene added by External review and reviewed by curation team, enough evidence to support gene-disease association and rating of this gene to Green.
Intellectual disability v2.424 ARCN1 Louise Daugherty Gene: arcn1 has been classified as Green List (High Evidence).
Intellectual disability v2.423 ARCN1 Louise Daugherty edited their review of gene: ARCN1: Added comment: New gene added by external expert review, who notes that there are 3 unrelated families reported in the literature (From OMIM based on report of 4 patients from 3 families- single report PMID:27476655, ID is part of the phenotype. Publication supports gene-disease association and rating of this gene to Green.; Changed rating: GREEN
Intellectual disability v2.423 ARCN1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability v2.423 ARCN1 Louise Daugherty Phenotypes for gene: ARCN1 were changed from Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Intellectual disability v2.422 AP1S1 Louise Daugherty Added comment: Comment on phenotypes: extended phenotype description, added OMIM MIMid
Intellectual disability v2.422 AP1S1 Louise Daugherty Phenotypes for gene: AP1S1 were changed from MEDNIK syndrome to MEDNIK syndrome, 609313; MEDNIK syndrome; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Intellectual disability v2.421 AP1S1 Louise Daugherty Classified gene: AP1S1 as Green List (high evidence)
Intellectual disability v2.421 AP1S1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. Rated green based on external review comment, internal assessment (supportive functional data) and further publications to support gene-disease association.
Intellectual disability v2.421 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Green List (High Evidence).
Intellectual disability v2.420 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Added comment: New gene added by external expert review, who notes French Canadian (founder effect); however, Sephardic Jewish family also reported with a different variant. ID is part of the phenotype, added publication to support gene-disease association.
The patients cases described in the literature to date are likely to be linked to a founder effect. 5 children from 3 families all from Quebec, Canada (with the same mutation) and 1 patient from a consanguineous Sephardic-Jewish background has been described (a different mutation in AP1S1).
However, this gene was rated Green on the Vici Syndrome and other autophagy disorders panel for MEDNIK syndrome after discussion with Emma Baple (South West GMC and Genomics England); as there is a second, independent case with a different variant, plus functional data, so this gene can be green on the ID panel, since intellectual disability is part of the phenotype; Changed rating: GREEN
Intellectual disability v2.420 AP1S1 Louise Daugherty Added comment: Comment on publications: Additional publications to support upgrading of the gene to Green
Intellectual disability v2.420 AP1S1 Louise Daugherty Publications for gene: AP1S1 were set to 23423674
Intellectual disability v2.419 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Intellectual disability v2.419 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.29 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Arthrogryposis v2.29 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.48 TCTEX1D2 Andrea Nemeth reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25830415, 26044572, 28475963; Phenotypes: Jeune asphyxiating thoracic dystrophy, short ribs, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.48 SUFU Andrea Nemeth reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 28965847; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.48 C21orf2 Andrea Nemeth reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23105016, 26167768, 26974433; Phenotypes: Axial Spondylometaphyseal Dysplasia (axial SMD), Jeune Syndrome, Retinal Dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.418 LYST Louise Daugherty Deleted their comment
Pancreatitis v0.18 CFTR Eleanor Williams Phenotypes for gene: CFTR were changed from to {Pancreatitis, hereditary} 167800
Pancreatitis v0.17 CFTR Eleanor Williams Publications for gene: CFTR were set to
Pancreatitis v0.16 CFTR Eleanor Williams Mode of inheritance for gene: CFTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.15 CFTR Eleanor Williams edited their review of gene: CFTR: Changed publications: 9725921, 15987793, 16134171, 16193325, 11729110, 23951356, 22427236, 25033378, 22658665, 26856995, 27555793, 1345141, 15749233, 25033378, 20977904, 22427236; Changed phenotypes: {Pancreatitis, hereditary} 167800; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.15 CFTR Eleanor Williams commented on gene: CFTR: Checking with Genomics England Clinical team as to the correct rating for this gene.
Pancreatitis v0.15 CFTR Eleanor Williams commented on gene: CFTR
Pancreatitis v0.15 CPA1 Eleanor Williams commented on gene: CPA1: Waiting on advice from Genomics England clinical team about the appropriate rating for this gene.
Pancreatitis v0.15 CPA1 Eleanor Williams Phenotypes for gene: CPA1 were changed from to chronic pancreatitis; hereditary chronic pancreatitis
Pancreatitis v0.14 CPA1 Eleanor Williams Added comment: Comment on publications: 28650851 is a review
Pancreatitis v0.14 CPA1 Eleanor Williams Publications for gene: CPA1 were set to
Intellectual disability v2.418 KIF5A Louise Daugherty edited their review of gene: KIF5A: Changed rating: GREEN
Pancreatitis v0.13 CPA1 Eleanor Williams commented on gene: CPA1
Intellectual disability v2.418 KIF5A Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Intellectual disability v2.418 KIF5A Louise Daugherty Publications for gene: KIF5A were set to
Intellectual disability v2.417 KIF5A Louise Daugherty Added comment: Comment on phenotypes: removed Spastic paraplegia 10, autosomal dominant, 604187, this is not a relevant phenotype on this panel.
Intellectual disability v2.417 KIF5A Louise Daugherty Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant, 604187 to Myoclonus, intractable, neonatal, 617235; intellectual disability
Intellectual disability v2.416 KIF5A Louise Daugherty Classified gene: KIF5A as Green List (high evidence)
Intellectual disability v2.416 KIF5A Louise Daugherty Gene: kif5a has been classified as Green List (High Evidence).
Intellectual disability v2.415 KIF5A Louise Daugherty Classified gene: KIF5A as Amber List (moderate evidence)
Intellectual disability v2.415 KIF5A Louise Daugherty Added comment: Comment on list classification: Changed from Red to green, enough evidence to support ID phenotype
Intellectual disability v2.415 KIF5A Louise Daugherty Gene: kif5a has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.414 PIGH Louise Daugherty Classified gene: PIGH as Amber List (moderate evidence)
Intellectual disability v2.414 PIGH Louise Daugherty Added comment: Comment on list classification: Changed from Red to Amber, recent publications support gene-disease association three affecteds (2 unrelated) cases
Intellectual disability v2.414 PIGH Louise Daugherty Gene: pigh has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.413 PIGH Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene
Intellectual disability v2.413 PIGH Louise Daugherty Publications for gene: PIGH were set to 29603516
Intellectual disability v2.412 PIGH Louise Daugherty Added comment: Comment on phenotypes: added phenotypes suggested by external reviewer
Intellectual disability v2.412 PIGH Louise Daugherty Phenotypes for gene: PIGH were changed from hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures to Glycosylphosphatidylinositol biosynthesis defect, 17; 618010; Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures
Pancreatitis v0.13 CTRC Eleanor Williams Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to} 167800
Pancreatitis v0.12 CTRC Eleanor Williams Publications for gene: CTRC were set to
Pancreatitis v0.11 CTRC Eleanor Williams Added comment: Comment on mode of inheritance: From OMIM
Pancreatitis v0.11 CTRC Eleanor Williams Mode of inheritance for gene: CTRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.10 CTRC Eleanor Williams Classified gene: CTRC as Green List (high evidence)
Pancreatitis v0.10 CTRC Eleanor Williams Added comment: Comment on list classification: More than 3 cases of plausible disease causing variants found in association with this disorder.
Pancreatitis v0.10 CTRC Eleanor Williams Gene: ctrc has been classified as Green List (High Evidence).
Pancreatitis v0.9 CTRC Eleanor Williams commented on gene: CTRC
Pancreatitis v0.9 PRSS1 Eleanor Williams Tag cnv tag was added to gene: PRSS1.
Pancreatitis v0.9 PRSS1 Eleanor Williams Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary 167800
Pancreatitis v0.8 PRSS1 Eleanor Williams Added comment: Comment on publications: Publications from OMIM
Pancreatitis v0.8 PRSS1 Eleanor Williams Publications for gene: PRSS1 were set to
Pancreatitis v0.7 PRSS1 Eleanor Williams Mode of inheritance for gene: PRSS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.6 PRSS1 Eleanor Williams Classified gene: PRSS1 as Green List (high evidence)
Pancreatitis v0.6 PRSS1 Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases of plausible disease causing variants associated with the disorder.
Pancreatitis v0.6 PRSS1 Eleanor Williams Gene: prss1 has been classified as Green List (High Evidence).
Pancreatitis v0.5 PRSS1 Eleanor Williams reviewed gene: PRSS1: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.411 ALX4 Louise Daugherty edited their review of gene: ALX4: Added comment: In view of external Green review and after internal review it was decided to keep this gene Amber on the ID panel, as it does not seem to be a consistently predominant feature. ALX4 is noted as having significant findings wrt PMID 29215649 but phenotypically supports inclusion on the craniosynostosis panel, where this gene is rated as Green; Changed rating: AMBER
Skeletal dysplasia v1.120 CCDC8 Louise Daugherty Classified gene: CCDC8 as Green List (high evidence)
Skeletal dysplasia v1.120 CCDC8 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Sufficient unrelated cases and more than one causative variant, and variants in this gene are currently reported in an external diagnostic lab
Skeletal dysplasia v1.120 CCDC8 Louise Daugherty Gene: ccdc8 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.119 CCDC8 Louise Daugherty Phenotypes for gene: CCDC8 were changed from 3-M syndrome 3 614205 to 3-M syndrome 3, 614205
Haematological malignancies cancer susceptibility v1.2 RTEL1 Sarah Leigh Mode of inheritance for gene: RTEL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematological malignancies cancer susceptibility v1.1 RTEL1 Sarah Leigh Deleted their comment
Skeletal dysplasia v1.118 CCDC8 Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease
Skeletal dysplasia v1.118 CCDC8 Louise Daugherty Publications for gene: CCDC8 were set to
Intellectual disability v2.411 CCDC8 Louise Daugherty Classified gene: CCDC8 as Red List (low evidence)
Intellectual disability v2.411 CCDC8 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.411 CCDC8 Louise Daugherty Gene: ccdc8 has been classified as Red List (Low Evidence).
Intellectual disability v2.410 CISD2 Louise Daugherty Classified gene: CISD2 as Red List (low evidence)
Intellectual disability v2.410 CISD2 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.410 CISD2 Louise Daugherty Gene: cisd2 has been classified as Red List (Low Evidence).
Intellectual disability v2.409 CISD2 Louise Daugherty reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematological malignancies cancer susceptibility v1.1 RTEL1 Sarah Leigh Added comment: Comment on mode of inheritance: MOI change suggested by Lara Hawkes (Genomics England Clinical Fellow)
Haematological malignancies cancer susceptibility v1.1 RTEL1 Sarah Leigh Mode of inheritance for gene: RTEL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.409 EDNRB Louise Daugherty Classified gene: EDNRB as Red List (low evidence)
Intellectual disability v2.409 EDNRB Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.409 EDNRB Louise Daugherty Gene: ednrb has been classified as Red List (Low Evidence).
Intellectual disability v2.408 EDNRB Louise Daugherty edited their review of gene: EDNRB: Changed rating: RED
Intellectual disability v2.408 FGFR1 Louise Daugherty reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pancreatitis v0.5 SPINK1 Eleanor Williams Phenotypes for gene: SPINK1 were changed from to Pancreatitis, hereditary 167800
Pancreatitis v0.4 SPINK1 Eleanor Williams Publications for gene: SPINK1 were set to
Pancreatitis v0.3 SPINK1 Eleanor Williams Added comment: Comment on mode of inheritance: OMIM has Pancreatitis, hereditary as AD inheritance and this appears to be correct for several variants reported.
Pancreatitis v0.3 SPINK1 Eleanor Williams Mode of inheritance for gene: SPINK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pancreatitis v0.2 SPINK1 Eleanor Williams Classified gene: SPINK1 as Green List (high evidence)
Pancreatitis v0.2 SPINK1 Eleanor Williams Added comment: Comment on list classification: Three cases/families found with different plausible disease causing variants found.
Pancreatitis v0.2 SPINK1 Eleanor Williams Gene: spink1 has been classified as Green List (High Evidence).
Pancreatitis v0.1 SPINK1 Eleanor Williams commented on gene: SPINK1
Intellectual disability v2.408 GBA Louise Daugherty commented on gene: GBA: In view of an external green review, this gene was reviewed again internally and with out internal clinical team. it was decided his gene should remain Amber. It was noted that the commonest type is type 1, where ID is not a clear feature, and that there are sufficient other features to suggest a metabolic / storage dysfunction in all types of Gaucher disease to prompt diagnosis via the undiagnosed metabolic route. So we have decided to leave this gene as amber on ID panel in view of the likely low yield and the complication of the later incidental neurological risks.
Intellectual disability v2.408 ORC1 Louise Daugherty Publications for gene: ORC1 were set to
Intellectual disability v2.407 ORC1 Louise Daugherty Classified gene: ORC1 as Red List (low evidence)
Intellectual disability v2.407 ORC1 Louise Daugherty Added comment: Comment on list classification: Although variants of ORC1 can result in microcephaly phenotype, there is no strong evidence for ID. single patient with ORC1 variants was described in this paper HERE, they had mild intellectual disability.
Intellectual disability v2.407 ORC1 Louise Daugherty Gene: orc1 has been classified as Red List (Low Evidence).
Intellectual disability v2.406 CDT1 Louise Daugherty Classified gene: CDT1 as Red List (low evidence)
Intellectual disability v2.406 CDT1 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Red
Intellectual disability v2.406 CDT1 Louise Daugherty Gene: cdt1 has been classified as Red List (Low Evidence).
Intellectual disability v2.405 ORC6 Louise Daugherty Classified gene: ORC6 as Amber List (moderate evidence)
Intellectual disability v2.405 ORC6 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Amber. There are some reports of ID but mild ID only.
Intellectual disability v2.405 ORC6 Louise Daugherty Gene: orc6 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.404 ORC4 Louise Daugherty Classified gene: ORC4 as Red List (low evidence)
Intellectual disability v2.404 ORC4 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted to Red
Intellectual disability v2.404 ORC4 Louise Daugherty Gene: orc4 has been classified as Red List (Low Evidence).
Intellectual disability v2.403 GSPT2 Louise Daugherty Classified gene: GSPT2 as Red List (low evidence)
Intellectual disability v2.403 GSPT2 Louise Daugherty Added comment: Comment on list classification: After internal and external review, it was agreed this gene should be demoted from Green to Red
Intellectual disability v2.403 GSPT2 Louise Daugherty Gene: gspt2 has been classified as Red List (Low Evidence).
Clefting v1.29 TGFB2 Anna de Burca gene: TGFB2 was added
gene: TGFB2 was added to Clefting. Sources: Literature
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFB2 were set to 29392890
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome
Review for gene: TGFB2 was set to AMBER
Added comment: Recently described as a cause of Loeys-Dietz syndrome. Only a small number of cases have been described in the literature, but clefting has been a feature in some cases.
Sources: Literature
Clefting v1.28 SMAD2 Anna de Burca gene: SMAD2 was added
gene: SMAD2 was added to Clefting. Sources: Literature
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 29967133; 29392890
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome
Review for gene: SMAD2 was set to AMBER
Added comment: Variants in this gene have recently been associated with Loeys-Dietz syndrome. Since only a small number of cases have been described to date, further work is required to determine whether individuals with variants in SMAD2 commonly present with the craniofacial features associated with this condition.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Intellectual disability v2.402 ISCA-37433-Gain Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
Added phenotypes 608363; Chromosome 22q11.2 microduplication syndrome; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; delayed psychomotor development, growth retardation, and/or hypotonia for Region: ISCA-37433-Gain
Intellectual disability v2.402 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Familial non syndromic congenital heart disease v1.33 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Clefting v1.27 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Intellectual disability v2.402 ISCA-37446-Gain Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
Added phenotypes intellectual disability and congenital abnormalities,Autism; chromosome 22q11.2 microduplication; 608363; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal for Region: ISCA-37446-Gain
Intellectual disability v2.402 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Familial non syndromic congenital heart disease v1.33 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Clefting v1.27 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Classified gene: NOTCH1 as Green List (high evidence)
Skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Added comment: Comment on list classification: Rated as green as there are sufficient number of cases/families and Genomics England clinical team have reviewed as being relevant to this panel.
Skeletal dysplasia v1.117 NOTCH1 Eleanor Williams Gene: notch1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.116 SMOC1 Eleanor Williams Classified gene: SMOC1 as Green List (high evidence)
Skeletal dysplasia v1.116 SMOC1 Eleanor Williams Added comment: Comment on list classification: Rated green as sufficient number of cases/families. Reviewed by Genomics England clinical team as appropriate for this panel.
Skeletal dysplasia v1.116 SMOC1 Eleanor Williams Gene: smoc1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.115 SMOC1 Eleanor Williams gene: SMOC1 was added
gene: SMOC1 was added to Unexplained skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC1 were set to 21194678; 21194680
Phenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Microphthalmia with limb anomalies 206920; Polydactyly
Review for gene: SMOC1 was set to GREEN
Added comment: Sourced from Genetic Home Reference. >3 cases/family reports for homozygous loss of function variants in this gene, in affacted individuals with microphthalmia with limb anomalies (see publications). This is a confirmed DD gene for OPHTHALMOACROMELIC SYNDROME. HPO terms from Gene2Phenotype include
Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Hand oligodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly.
Sources: Expert Review
Skeletal dysplasia v1.114 NOTCH1 Eleanor Williams gene: NOTCH1 was added
gene: NOTCH1 was added to Unexplained skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 25132448; 25963545; 27077170; 25132448
Phenotypes for gene: NOTCH1 were set to Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); AOS; Limb, scalp and skull defects
Review for gene: NOTCH1 was set to GREEN
Added comment: There are more than three unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome
Sources: Expert Review
Skeletal dysplasia v1.113 DVL3 Sarah Leigh Publications for gene: DVL3 were set to PMID: 26924530
Skeletal dysplasia v1.113 DVL3 Sarah Leigh Classified gene: DVL3 as Green List (high evidence)
Skeletal dysplasia v1.113 DVL3 Sarah Leigh Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.112 DLL4 Sarah Leigh Publications for gene: DLL4 were set to PMID: 26299364
Skeletal dysplasia v1.111 DLL4 Sarah Leigh Classified gene: DLL4 as Green List (high evidence)
Skeletal dysplasia v1.111 DLL4 Sarah Leigh Gene: dll4 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.110 PDE3A Sarah Leigh Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Skeletal dysplasia v1.110 PDE3A Sarah Leigh Classified gene: PDE3A as Green List (high evidence)
Skeletal dysplasia v1.110 PDE3A Sarah Leigh Gene: pde3a has been classified as Green List (High Evidence).
Skeletal dysplasia v1.109 DVL3 Rachel Jones gene: DVL3 was added
gene: DVL3 was added to Unexplained skeletal dysplasia. Sources: Other
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to PMID: 26924530
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3 616894
Penetrance for gene: DVL3 were set to unknown
Review for gene: DVL3 was set to GREEN
Added comment: Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients.

Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome.
Sources: Other
Skeletal dysplasia v1.108 DLL4 Rachel Jones gene: DLL4 was added
gene: DLL4 was added to Unexplained skeletal dysplasia. Sources: Other
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL4 were set to PMID: 26299364
Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6 616589
Penetrance for gene: DLL4 were set to Incomplete
Review for gene: DLL4 was set to GREEN
Added comment: Meester et al PMID: 26299364 using candidate gene approach identified 9 heterozygous mutations in DLL4 (which is a NOTCH ligand) from 91 families - same pathway as other genes previously idetified to cause Adams Oliver syndrome.

No functional studies were performed, but software predicted pathogenicity of missense mutations.

Evidence of non penetrance in the paper - affected siblings inheriting mutation from seemingly unaffected parent.
Sources: Other
Skeletal dysplasia v1.107 PDE3A Rachel Jones gene: PDE3A was added
gene: PDE3A was added to Unexplained skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to PMID: 25961942; 9696728
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome 112410
Penetrance for gene: PDE3A were set to Complete
Mode of pathogenicity for gene: PDE3A 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: PDE3A was set to GREEN
Added comment: Mutations appear to be gain of function missense as per PMID 25961942*. 6 missense variants identified in unrelated families with dominant hypertension with brachydactyly (HTNB)
*Article link https://www.nature.com/articles/ng.3302

The article PMID: 9696728 gives more information about the clinical phenotype - their Canadian and American families showed linkage to an area of chromosome 12p containing PDE3A, as had a previous Turkish family.
http://annals.org/aim/fullarticle/711593/families-autosomal-dominant-brachydactyly-type-e-short-stature-severe-hypertension.
Sources: Literature
Intellectual disability v2.401 ISCA-37404-Gain Louise Daugherty Added comment: Comment on phenotypes: minor amendment to type in phenotype
Intellectual disability v2.401 ISCA-37404-Gain Louise Daugherty Phenotypes for Region: ISCA-37404-Gain were changed from chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected
Intellectual disability v2.400 ISCA-37478-Gain Louise Daugherty Haploinsufficiency Score for ISCA-37478-Gain was changed from None to .
Source ClinGen was added to Region: ISCA-37478-Gain.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.7 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Intellectual disability v2.400 ISCA-37433-Gain Louise Daugherty GRCh38 position for ISCA-37433-Gain was changed from 18178958-20324381 to 18924718-20299686.
Intellectual disability v2.400 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Familial non syndromic congenital heart disease v1.32 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Clefting v1.26 ISCA-37433-Loss Louise Daugherty GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.7 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Intellectual disability v2.400 ISCA-37446-Gain Louise Daugherty GRCh38 position for ISCA-37446-Gain was changed from 18178958-21207225 to 18924718-21111384.
Intellectual disability v2.400 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Familial non syndromic congenital heart disease v1.32 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Clefting v1.26 ISCA-37446-Loss Louise Daugherty GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
Limb disorders v0.170 WDPCP Sarah Leigh Marked gene: WDPCP as ready
Limb disorders v0.170 WDPCP Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in a single case.
Limb disorders v0.170 WDPCP Sarah Leigh Gene: wdpcp has been classified as Red List (Low Evidence).
Limb disorders v0.170 WDPCP Sarah Leigh Publications for gene: WDPCP were set to
Limb disorders v0.169 WDPCP Sarah Leigh Mode of inheritance for gene: WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.168 WDPCP Sarah Leigh Phenotypes for gene: WDPCP were changed from Polydactyly to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085
Limb disorders v0.167 WDR19 Sarah Leigh Marked gene: WDR19 as ready
Limb disorders v0.167 WDR19 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Two variants reported as compound heterozygotes in affected members of one family with Cranioectodermal dysplasia 4 and one homozygous variant reported in Short-rib thoracic dysplasia 5 without polydactyly 614376, but this phenotype also includes brachydactyly.
Limb disorders v0.167 WDR19 Sarah Leigh Gene: wdr19 has been classified as Red List (Low Evidence).
Limb disorders v0.167 WDR19 Sarah Leigh Mode of inheritance for gene: WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.166 WDR19 Sarah Leigh Added comment: Comment on phenotypes: Variants also reported in Nephronophthisis 13 614377 & Senior-Loken syndrome 8 616307, but these phenotypes are not relevant to the limb disorders panel
Limb disorders v0.166 WDR19 Sarah Leigh Phenotypes for gene: WDR19 were changed from ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Limb disorders v0.165 WDR19 Sarah Leigh Publications for gene: WDR19 were set to
Limb disorders v0.164 WDR19 Sarah Leigh Phenotypes for gene: WDR19 were changed from Polydactyly to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Limb disorders v0.163 WDR34 Sarah Leigh Marked gene: WDR34 as ready
Limb disorders v0.163 WDR34 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Short-rib thoracic dysplasia 11 with or without polydactyly 615633 and severe asphyxiating thoracic dysplasia. Although polydactyly is not commonly recorded in this phenotype, the majority of cases have shorted limbs, such that PMID 24183451 reports 5 variants in 4 unrelated cases with short limbs.
Limb disorders v0.163 WDR34 Sarah Leigh Gene: wdr34 has been classified as Green List (High Evidence).
Limb disorders v0.163 WDR34 Sarah Leigh Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly 615633 to Short-rib thoracic dysplasia 11 with or without polydactyly 615633; severe asphyxiating thoracic dysplasia
Limb disorders v0.162 WDR34 Sarah Leigh Publications for gene: WDR34 were set to
Limb disorders v0.161 WDR34 Sarah Leigh Classified gene: WDR34 as Green List (high evidence)
Limb disorders v0.161 WDR34 Sarah Leigh Gene: wdr34 has been classified as Green List (High Evidence).
Limb disorders v0.160 WDR34 Sarah Leigh Phenotypes for gene: WDR34 were changed from Polydactyly to Short-rib thoracic dysplasia 11 with or without polydactyly 615633
Limb disorders v0.159 WDR34 Sarah Leigh Mode of inheritance for gene: WDR34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.158 WDR35 Sarah Leigh Classified gene: WDR35 as Green List (high evidence)
Limb disorders v0.158 WDR35 Sarah Leigh Gene: wdr35 has been classified as Green List (High Evidence).
Limb disorders v0.157 WDR35 Sarah Leigh Marked gene: WDR35 as ready
Limb disorders v0.157 WDR35 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in Cranioectodermal dysplasia 2 613610 and 7 variants reported in Short-rib thoracic dysplasia 7 with or without polydactyly 614091. Both phenotypes are relevant to this panel, supportive evidence also provided from a mouse model (PMID 21473986).
Limb disorders v0.157 WDR35 Sarah Leigh Gene: wdr35 has been classified as Red List (Low Evidence).
Limb disorders v0.157 WDR35 Sarah Leigh Publications for gene: WDR35 were set to
Limb disorders v0.156 WDR35 Sarah Leigh Phenotypes for gene: WDR35 were changed from Polydactyly to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Limb disorders v0.155 WDR35 Sarah Leigh Mode of inheritance for gene: WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.154 ZSWIM6 Sarah Leigh Classified gene: ZSWIM6 as Amber List (moderate evidence)
Limb disorders v0.154 ZSWIM6 Sarah Leigh Gene: zswim6 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.153 ZSWIM6 Sarah Leigh commented on gene: ZSWIM6
Limb disorders v0.153 ZSWIM6 Sarah Leigh Tag mosaicism tag was added to gene: ZSWIM6.
Intellectual disability v2.399 ZSWIM6 Sarah Leigh Tag mosaicism tag was added to gene: ZSWIM6.
Limb disorders v0.153 ZSWIM6 Sarah Leigh Publications for gene: ZSWIM6 were set to
Limb disorders v0.152 ZSWIM6 Sarah Leigh Phenotypes for gene: ZSWIM6 were changed from Polydactyly to Acromelic frontonasal dysostosis 603671
Limb disorders v0.151 ZSWIM6 Sarah Leigh Mode of inheritance for gene: ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.150 MIR17HG Eleanor Williams Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2 614326
Limb disorders v0.149 FGF9 Eleanor Williams Added comment: Comment on mode of inheritance: Both cases to date report monoallelic inheritance
Limb disorders v0.149 FGF9 Eleanor Williams Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.148 BMP2 Eleanor Williams Added comment: Comment on publications: Added PMID:29129813 another report from 2018 of a duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2
Limb disorders v0.148 BMP2 Eleanor Williams Publications for gene: BMP2 were set to 19327734; 21357617; 29198724
Limb disorders v0.147 BHLHA9 Eleanor Williams commented on gene: BHLHA9
Limb disorders v0.147 ARHGAP31 Eleanor Williams commented on gene: ARHGAP31: PMID: 21565291 (Southgate et al 2011) report that the two variants found have a gain of function.
Limb disorders v0.147 ARHGAP31 Eleanor Williams commented on gene: ARHGAP31
Limb disorders v0.147 ARHGAP31 Eleanor Williams Publications for gene: ARHGAP31 were set to 21565291
Skeletal dysplasia v1.106 ARHGAP31 Eleanor Williams Publications for gene: ARHGAP31 were set to 21565291
Skeletal dysplasia v1.105 ARHGAP31 Eleanor Williams commented on gene: ARHGAP31
Limb disorders v0.146 ZNF141 Eleanor Williams commented on gene: ZNF141
Limb disorders v0.146 SOX9 Eleanor Williams commented on gene: SOX9
Limb disorders v0.146 SLC25A21 Eleanor Williams commented on gene: SLC25A21
Limb disorders v0.146 SHH Eleanor Williams commented on gene: SHH
Limb disorders v0.146 POLL Eleanor Williams commented on gene: POLL: Genomics England clinical team notes - Agree with red rating. Part of the critical region of a duplication identified in split hand/foot malformation; no direct evidence this is the causative gene
Limb disorders v0.146 MIPOL1 Eleanor Williams commented on gene: MIPOL1
Limb disorders v0.146 IQCE Eleanor Williams commented on gene: IQCE
Limb disorders v0.146 GREM1 Eleanor Williams commented on gene: GREM1
Limb disorders v0.146 KIAA0586 Eleanor Williams commented on gene: KIAA0586
Limb disorders v0.146 IFT43 Eleanor Williams commented on gene: IFT43
Limb disorders v0.146 DYNC2H1 Eleanor Williams commented on gene: DYNC2H1
Limb disorders v0.146 TRPV4 Eleanor Williams commented on gene: TRPV4
Limb disorders v0.146 SMOC1 Eleanor Williams commented on gene: SMOC1
Limb disorders v0.146 SLC26A2 Eleanor Williams commented on gene: SLC26A2
Limb disorders v0.146 SFRP4 Eleanor Williams commented on gene: SFRP4
Limb disorders v0.146 PRMT7 Eleanor Williams commented on gene: PRMT7: Genomics England clinical team notes - Not primarily limb phenotype (skeletal dysplasia + ID), on appropriate panels.
Limb disorders v0.146 PRMT7 Eleanor Williams Classified gene: PRMT7 as Amber List (moderate evidence)
Limb disorders v0.146 PRMT7 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.146 PRMT7 Eleanor Williams Gene: prmt7 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.145 PORCN Eleanor Williams commented on gene: PORCN: Genomics England clinical team notes - Not primarily limb (focal dermal hypoplasia/Goltz Gorlin)
Limb disorders v0.145 PORCN Eleanor Williams Classified gene: PORCN as Amber List (moderate evidence)
Limb disorders v0.145 PORCN Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.145 PORCN Eleanor Williams Gene: porcn has been classified as Amber List (Moderate Evidence).
Limb disorders v0.144 PDE3A Eleanor Williams commented on gene: PDE3A
Limb disorders v0.144 NEK1 Eleanor Williams commented on gene: NEK1: Genomics England clinical team notes - Not primarily limb - short rib +/- polydactyly (ciliopathy). On ciliopathy, skeletal dysplasia, clefting and thoracic dystrophies panels already
Limb disorders v0.144 NEK1 Eleanor Williams Classified gene: NEK1 as Amber List (moderate evidence)
Limb disorders v0.144 NEK1 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.144 NEK1 Eleanor Williams Gene: nek1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.143 LRP4 Eleanor Williams commented on gene: LRP4
Limb disorders v0.143 COL2A1 Eleanor Williams commented on gene: COL2A1: Genomics England clinical team notes - Not primarily limb. On clefting, skeletal dysplasia panels.
Limb disorders v0.143 COL2A1 Eleanor Williams Classified gene: COL2A1 as Amber List (moderate evidence)
Limb disorders v0.143 COL2A1 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team
Limb disorders v0.143 COL2A1 Eleanor Williams Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.142 CHSY1 Eleanor Williams commented on gene: CHSY1: Genomics England Clinical team notes - Not primarily limb (Temtamy Preaxial brachydactyly syndrome). Already on skeletal dysplasia panel
Limb disorders v0.142 CHSY1 Eleanor Williams Classified gene: CHSY1 as Amber List (moderate evidence)
Limb disorders v0.142 CHSY1 Eleanor Williams Added comment: Comment on list classification: Rated Amber after review from Genomics England clinical team
Limb disorders v0.142 CHSY1 Eleanor Williams Gene: chsy1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.141 ORC1 Eleanor Williams commented on gene: ORC1: Genomics England clinical team notes - Limb not isolated phenotype (Meier-Gorlin), on appropriate panels
Limb disorders v0.141 TRAPPC2 Eleanor Williams commented on gene: TRAPPC2: Genomics England clinical team notes - Presents with short stature (MEDT), on skeletal dysplasia panel
Limb disorders v0.141 TRAPPC2 Eleanor Williams Classified gene: TRAPPC2 as Amber List (moderate evidence)
Limb disorders v0.141 TRAPPC2 Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice from Genomics England clinical team
Limb disorders v0.141 TRAPPC2 Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.140 ORC1 Eleanor Williams Classified gene: ORC1 as Amber List (moderate evidence)
Limb disorders v0.140 ORC1 Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice on Genomics England clinical team. Limb not isolated phenotype (Meier-Gorlin) on appropriate panels
Limb disorders v0.140 ORC1 Eleanor Williams Gene: orc1 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.5 FOXI1 John Sayer gene: FOXI1 was added
gene: FOXI1 was added to Renal tubular acidosis. Sources: Expert Review,Literature
Mode of inheritance for gene: FOXI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: FOXI1 were set to 29242249
Phenotypes for gene: FOXI1 were set to deafness; renal tubular acidosis
Penetrance for gene: FOXI1 were set to Incomplete
Review for gene: FOXI1 was set to GREEN
Added comment: New gene for RTA and deafness
Sources: Expert Review, Literature
Renal tubulopathies v1.5 XPR1 John Sayer gene: XPR1 was added
gene: XPR1 was added to Renal tubular acidosis. Sources: Literature,Expert Review
Mode of inheritance for gene: XPR1 was set to Unknown
Publications for gene: XPR1 were set to 27799484
Phenotypes for gene: XPR1 were set to Fanconi syndrome; hypophosphatamia
Penetrance for gene: XPR1 were set to unknown
Mode of pathogenicity for gene: XPR1 was set to Other
Review for gene: XPR1 was set to RED
Added comment: Potential novel gene involved in Renal Fanconi and Renal Tubular Acidosis
Sources: Literature, Expert Review
Intellectual disability v2.399 ISCA-37478-Gain Louise Daugherty GRCh38 position for ISCA-37478-Gain was changed from - to 23513243-28312040.
Haploinsufficiency Score for ISCA-37478-Gain was changed from to None.
Source ClinGen was removed from Region: ISCA-37478-Gain.
Source Other was added to Region: ISCA-37478-Gain.
Skeletal dysplasia v1.105 ISCA-37418-Loss Louise Daugherty Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities
Skeletal dysplasia v1.105 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Skeletal dysplasia v1.105 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Skeletal dysplasia v1.105 ISCA-37394-Loss Louise Daugherty Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Skeletal dysplasia v1.105 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Unexplained kidney failure in young people v1.15 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Unexplained kidney failure in young people. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Unexplained kidney failure in young people v1.15 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Unexplained kidney failure in young people. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Undiagnosed metabolic disorders v1.78 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Undiagnosed metabolic disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Severe early-onset obesity v1.5 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105835
Rare multisystem ciliopathy disorders v1.48 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Rare multisystem ciliopathy disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Rare multisystem ciliopathy disorders v1.48 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Rare multisystem ciliopathy disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Severe microcephaly v1.37 ISCA-37425-Gain Louise Daugherty Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694
Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
Severe microcephaly v1.37 ISCA-37390-Loss Louise Daugherty Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506
Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay
Severe microcephaly v1.37 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Severe microcephaly v1.37 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Primary immunodeficiency or monogenic inflammatory bowel disease v1.6 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Primary immunodeficiency disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.6 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Primary immunodeficiency disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400
Paediatric motor neuronopathies v1.14 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105833; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Paediatric motor neuronopathies v1.14 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Paediatric motor neuronopathies v1.14 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Ocular coloboma v1.16 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Ocular coloboma. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Neonatal diabetes v1.7 ISCA-37442-Gain Louise Daugherty Region: ISCA-37442-Gain was added
Region: ISCA-37442-Gain was added to Neonatal diabetes diagnosed <6 months. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37442-Gain were set to 10923638; 8842729; 10615957
Phenotypes for Region: ISCA-37442-Gain were set to 601410; Transient neonatal diabetes mellitus; Transient neonatal diabetes
Neonatal cholestasis v1.2 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Neonatal cholestasis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Mitochondrial disorders v1.68 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Mitochondrial disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Malformations of cortical development v1.152 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Malformations of cortical development. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
IUGR and IGF abnormalities v1.25 ISCA-37397-Loss Louise Daugherty Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to diaphragmatic hernia; mild skeletal abnormalities; uterine didelphys; 611867; DiGeorge syndrome (DGS); clinodactyly; velocardiofacial syndrome; ADHD; Goldenhar syndrome; prematurity; developmental delay; micropephaly; cardiovascular defects; Seizures; global developmental delay; language delay; prenatal and postnatal growth delay; Hyptonia
IUGR and IGF abnormalities v1.25 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
IUGR and IGF abnormalities v1.25 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Intellectual disability v2.398 ISCA-37404-Gain Louise Daugherty Region: ISCA-37404-Gain was added
Region: ISCA-37404-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37404-Gain were set to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected
Intellectual disability v2.398 ISCA-37418-Gain Louise Daugherty Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Gain were set to infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies; 610883; characterized by hypotonia, poor feeding, failure to thrive, developmental delay, mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated
Intellectual disability v2.398 ISCA-37418-Loss Louise Daugherty Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities
Intellectual disability v2.398 ISCA-37421-Gain Louise Daugherty Region: ISCA-37421-Gain was added
Region: ISCA-37421-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37421-Gain were set to 3298277; 3817079
Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome; ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis; 612475; 1q21.1 microduplication syndrome
Intellectual disability v2.398 ISCA-37421-Loss Louise Daugherty Region: ISCA-37421-Loss was added
Region: ISCA-37421-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37421-Loss were set to dysmorphic features; 612474; Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts; mild to moderate developmental delay
Intellectual disability v2.398 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Intellectual disability v2.398 ISCA-37423-Loss Louise Daugherty Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Loss were set to 23239632; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.; congenital heart defects, microcephaly, psychomotor delay and behavioural problems; hyperactivity, craniofacial abnormalities; 8p23.1 microdeletion syndrome; moderate intellectual disability
Intellectual disability v2.398 ISCA-37425-Gain Louise Daugherty Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694
Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
Intellectual disability v2.398 ISCA-37430-Gain Louise Daugherty Region: ISCA-37430-Gain was added
Region: ISCA-37430-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37430-Gain were set to 23813913; 19520700; 19136950
Phenotypes for Region: ISCA-37430-Gain were set to 613215; Chromosome 17p13.3 duplication syndrome; variable psychomotor delay and dysmorphic features; 17q11.2 microduplication syndrome
Intellectual disability v2.398 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
Intellectual disability v2.398 ISCA-37432-Gain Louise Daugherty Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties
Intellectual disability v2.398 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Intellectual disability v2.398 ISCA-37433-Gain Louise Daugherty Region: ISCA-37433-Gain was added
Region: ISCA-37433-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Gain were set to 17250668; 20301749; 18414210
Phenotypes for Region: ISCA-37433-Gain were set to delayed psychomotor development, growth retardation, and/or hypotonia; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; Chromosome 22q11.2 microduplication syndrome; 608363
Intellectual disability v2.398 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Intellectual disability v2.398 ISCA-37446-Gain Louise Daugherty Region: ISCA-37446-Gain was added
Region: ISCA-37446-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37446-Gain were set to 23044707; 22970919
Phenotypes for Region: ISCA-37446-Gain were set to chromosome 22q11.2 microduplication; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal; 608363; intellectual disability and congenital abnormalities,Autism
Intellectual disability v2.398 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits
Intellectual disability v2.398 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Intellectual disability v2.398 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Intellectual disability v2.398 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Intellectual disability v2.398 ISCA-37443-Loss Louise Daugherty Region: ISCA-37443-Loss was added
Region: ISCA-37443-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37443-Loss were set to . mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth; 1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425; Chromosome 3q29 microdeletion syndrome
Intellectual disability v2.398 ISCA-37500-Loss Louise Daugherty Region: ISCA-37500-Loss was added
Region: ISCA-37500-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37500-Loss were set to 23166063; 17847001; 24352913
Phenotypes for Region: ISCA-37500-Loss were set to mild to moderate cognitive deficit; Diamond-Blackfan anemia; intellectual disability; 614294; anemia; congenital diaphragmatic hernia; cryptorchidism in males; severe speech and psychomotor delay; mental retardation; postnatal short stature; behavioral problem; mild dysmorphic feature; developmental delay
Intellectual disability v2.398 ISCA-37392-Gain Louise Daugherty Region: ISCA-37392-Gain was added
Region: ISCA-37392-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Gain were set to 26610320
Phenotypes for Region: ISCA-37392-Gain were set to intellectual disability; 609757; behavior problems; abnormal gait and station; cardiovascular disease; phonologic disorders; distinctive facial features; neurologic abnormalities; speech sound disorders
Intellectual disability v2.398 ISCA-37397-Gain Louise Daugherty Region: ISCA-37397-Gain was added
Region: ISCA-37397-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Gain were set to 18414210; 22140377; 19193630
Phenotypes for Region: ISCA-37397-Gain were set to seizures; failure to thrive; ADHD; heart defects; speech disturbances; hypernasal speech; hearing impariment; abnormal behaviour; developmental delay; hypotonia; micro- or macrocephaly
Intellectual disability v2.398 ISCA-37397-Loss Louise Daugherty Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902
Phenotypes for Region: ISCA-37397-Loss were set to diaphragmatic hernia; mild skeletal abnormalities; uterine didelphys; 611867; DiGeorge syndrome (DGS); clinodactyly; velocardiofacial syndrome; ADHD; Goldenhar syndrome; prematurity; developmental delay; micropephaly; cardiovascular defects; Seizures; global developmental delay; language delay; prenatal and postnatal growth delay; Hyptonia
Intellectual disability v2.398 ISCA-37400-Gain Louise Daugherty Region: ISCA-37400-Gain was added
Region: ISCA-37400-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881
Phenotypes for Region: ISCA-37400-Gain were set to 614671; intellectual disability; delayed development; autism; specific deficits in speech or language
Intellectual disability v2.398 ISCA-37400-Loss Louise Daugherty Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37400-Loss were set to 21841781; 18184952; 20301775
Phenotypes for Region: ISCA-37400-Loss were set to seizures; intellectual disability; Chiari malformations; cerebellar ectopia; 611913; mental retardation; Macrocephaly; developmental delay; autism spectrum disorder (ASD); vertebral anomalies
Intellectual disability v2.398 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Intellectual disability v2.398 ISCA-37439-Gain Louise Daugherty Region: ISCA-37439-Gain was added
Region: ISCA-37439-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37439-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for Region: ISCA-37439-Gain were set to 17546640; 20004760; 18047645
Phenotypes for Region: ISCA-37439-Gain were set to 28300815; Chromosome Xq duplication syndrome
Intellectual disability v2.398 ISCA-37390-Loss Louise Daugherty Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506
Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay
Intellectual disability v2.398 ISCA-37394-Loss Louise Daugherty Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
Intellectual disability v2.398 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Intellectual disability v2.398 ISCA-37406-Loss Louise Daugherty Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543
Intellectual disability v2.398 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Intellectual disability v2.398 ISCA-37411-Loss Louise Daugherty Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37411-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37411-Loss were set to 19289393; 19136953; 18278044
Phenotypes for Region: ISCA-37411-Loss were set to PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems; 612001; PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms; PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Intellectual disability v2.398 ISCA-37415-Gain Louise Daugherty Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Gain were set to 23637818; 24352232; 21614007
Intellectual disability v2.398 ISCA-37415-Loss Louise Daugherty Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141
Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Intellectual disability v2.398 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Intellectual disability v2.398 ISCA-37424-Loss Louise Daugherty Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37424-Loss were set to 25217958; 20345475; 21248748; 24550761
Phenotypes for Region: ISCA-37424-Loss were set to PMID 20345475 macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. PMID: 21248748 developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia; PMID: 25217958 none specified; PMID: 24550761 age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before, phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable
Intellectual disability v2.398 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Hereditary ataxia v1.122 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105831
Hereditary ataxia v1.122 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Early onset or syndromic epilepsy v0.410 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105832; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37430-Loss Louise Daugherty Region: ISCA-37430-Loss was added
Region: ISCA-37430-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37430-Loss were set to 19584063; 1671808; 1879837; 3391613; 12621583; 7634541
Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37432-Gain Louise Daugherty Region: ISCA-37432-Gain was added
Region: ISCA-37432-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties
Early onset or syndromic epilepsy v0.410 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Early onset or syndromic epilepsy v0.410 ISCA-37411-Loss Louise Daugherty Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37411-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37411-Loss were set to 19289393; 19136953; 18278044
Phenotypes for Region: ISCA-37411-Loss were set to PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems; 612001; PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms; PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Early onset or syndromic epilepsy v0.410 ISCA-37415-Loss Louise Daugherty Region: ISCA-37415-Loss was added
Region: ISCA-37415-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141
Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Early onset or syndromic epilepsy v0.410 ISCA-37478-Gain Louise Daugherty Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 18374305; 16840569; 9106540
Phenotypes for Region: ISCA-37478-Gain were set to hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome; autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Familial non syndromic congenital heart disease v1.30 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Familial non syndromic congenital heart disease v1.30 ISCA-37423-Loss Louise Daugherty Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Loss were set to 23239632; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.; congenital heart defects, microcephaly, psychomotor delay and behavioural problems; hyperactivity, craniofacial abnormalities; 8p23.1 microdeletion syndrome; moderate intellectual disability
Familial non syndromic congenital heart disease v1.30 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Familial non syndromic congenital heart disease v1.30 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400
Familial non syndromic congenital heart disease v1.30 ISCA-37434-Loss Louise Daugherty Region: ISCA-37434-Loss was added
Region: ISCA-37434-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432
Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872
Familial non syndromic congenital heart disease v1.30 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Familial diabetes v1.13 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Familial diabetes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.55 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Diabetes with additional phenotypes suggestive of a monogenic aetiology. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Deafness and congenital structural abnormalities v1.10 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Deafness and congenital structural abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Cystic kidney disease v1.29 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Cystic kidney disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Cystic kidney disease v1.29 ISCA-37405-Loss Louise Daugherty Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Cystic kidney disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 15138899; 8852662
Phenotypes for Region: ISCA-37405-Loss were set to juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities; 266900; 609583
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.39 ISCA-37441-Loss Louise Daugherty Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to Craniosynostosis syndromes phenotypes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962
Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay
Congenital myopathy v1.60 ISCA-37408-Loss Louise Daugherty Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 16963482; 22579565; 18245392
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
Congenital myopathy v1.60 ISCA-37420-Loss Louise Daugherty Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Congenital hypothyroidism v1.2 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 105834; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome
Clefting v1.25 ISCA-37423-Gain Louise Daugherty Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203
Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome
Clefting v1.25 ISCA-37433-Loss Louise Daugherty Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696
Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies
Clefting v1.25 ISCA-37446-Loss Louise Daugherty Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37446-Loss were set to cardiac malformations; clefting; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400
Clefting v1.25 ISCA-37467-Gain Louise Daugherty Region: ISCA-37467-Gain was added
Region: ISCA-37467-Gain was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37467-Gain were set to 19291772; 18417549; 18178630
Phenotypes for Region: ISCA-37467-Gain were set to human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype; 174500; Triphalangeal thumbpolysyndactyly syndrome; syndactyly type IV with tibial hypoplasia
Clefting v1.25 ISCA-37393-Gain Louise Daugherty Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Clefting. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 11693792; 22890013; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome; 115470
Hereditary neuropathy v1.25 ISCA-37436-Gain Louise Daugherty Region: ISCA-37436-Gain was added
Region: ISCA-37436-Gain was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Gain were set to 20301384
Phenotypes for Region: ISCA-37436-Gain were set to 118220; Charcot-Marie-Tooth neuropathy type 1; distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop; hereditary neuropathy
Hereditary neuropathy v1.25 ISCA-37436-Loss Louise Daugherty Region: ISCA-37436-Loss was added
Region: ISCA-37436-Loss was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37436-Loss were set to 20301566
Phenotypes for Region: ISCA-37436-Loss were set to 162500; Charcot-Marie-Tooth disease, type 1A; muscle weakness; repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop; Neuropathy, recurrent, with pressure palsies; mild to moderate peripheral neuropathy
CAKUT v1.25 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to CAKUT. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Autosomal recessive congenital ichthyosis v1.7 ISCA-37417-Loss Louise Daugherty Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Autosomal recessive congenital ichthyosis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked; 308100
Unexplained kidney failure in young people v1.15 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Unexplained kidney failure in young people. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Severe early-onset obesity v1.5 ISCA-37486-Loss Louise Daugherty Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231
Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity
Severe early-onset obesity v1.5 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Paediatric motor neuronopathies v1.14 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Paediatric motor neuronopathies v1.14 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Paediatric motor neuronopathies. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Childhood solid tumours v1.19 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Paediatric congenital malformation-dysmorphism-tumour syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
IUGR and IGF abnormalities v1.25 ISCA-37392-Loss Louise Daugherty Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome
IUGR and IGF abnormalities v1.25 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Intellectual disability v2.398 ISCA-37404-Loss Louise Daugherty Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Intellectual disability v2.398 ISCA-37425-Loss Louise Daugherty Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Intellectual disability v2.398 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements
Intellectual disability v2.398 ISCA-37486-Loss Louise Daugherty Region: ISCA-37486-Loss was added
Region: ISCA-37486-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231
Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity
Intellectual disability v2.398 ISCA-37493-Loss Louise Daugherty Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713
Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum
Intellectual disability v2.398 ISCA-46295-Loss Louise Daugherty Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350
Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy
Intellectual disability v2.398 ISCA-37392-Loss Louise Daugherty Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome
Intellectual disability v2.398 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Intellectual disability v2.398 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Intellectual disability v2.398 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Hereditary ataxia v1.122 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Hereditary ataxia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Early onset or syndromic epilepsy v0.410 ISCA-37493-Loss Louise Daugherty Region: ISCA-37493-Loss was added
Region: ISCA-37493-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713
Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum
Early onset or syndromic epilepsy v0.410 ISCA-46295-Loss Louise Daugherty Region: ISCA-46295-Loss was added
Region: ISCA-46295-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350
Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy
Early onset or syndromic epilepsy v0.410 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Early onset or syndromic epilepsy v0.410 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Familial non syndromic congenital heart disease v1.30 ISCA-37392-Loss Louise Daugherty Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome
Differences in sex development v1.24 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Disorders of sex development. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Congenital myopathy v1.60 ISCA-37429-Loss Louise Daugherty Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Congenital hypothyroidism v1.2 ISCA-37478-Loss Louise Daugherty Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830
Brain channelopathy v1.31 ISCA-37468-Loss Louise Daugherty Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Brain channelopathy. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to episodes of sudden loss of muscle tone; severe intellectual disability; exiting behavior; short stature; eleveated serotonin levels; autistic features; lip-smacking; hypotonia; stereotypical hand movements
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.42 ISCA-37425-Loss Louise Daugherty Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Adult solid tumours for rare disease v1.20 ISCA-37401-Loss Louise Daugherty Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Adult solid tumours for rare disease. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Testicular cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Lung cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Upper gastrointestinal cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Thyroid cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Sarcoma cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Renal cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Prostate cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Ovarian cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Neuroendocrine cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Melanoma pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Head and neck cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Haematological malignancies cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Endometrial cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Colorectal cancer pertinent cancer susceptibility v2.0 Louise Daugherty promoted panel to version 2.0
Colorectal cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Childhood solid tumours cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Breast cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Bladder cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Brain cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Adult solid tumours cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Inherited white matter disorders ATP7A Zornitza Stark Added gene to panel
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams classified FANCB as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams classified ZIC3 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Intellectual disability TUBG1 Sarah Leigh marked gene: TUBG1 as ready
Early onset or syndromic epilepsy TUBG1 Sarah Leigh marked gene: TUBG1 as ready
Early onset or syndromic epilepsy TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Early onset or syndromic epilepsy TUBG1 Sarah Leigh classified TUBG1 as Green List (high evidence)
Early onset or syndromic epilepsy UBA5 Sarah Leigh marked gene: UBA5 as ready
Early onset or syndromic epilepsy GTPBP2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GTPBP2 Konstantinos Varvagiannis Added gene to panel
Rare multisystem ciliopathy disorders GLIS2 Andrea Nemeth reviewed gene: GLIS2
Rare multisystem ciliopathy disorders EXOC3L2 Andrea Nemeth reviewed gene: EXOC3L2
Rare multisystem ciliopathy disorders GLI3 Andrea Nemeth reviewed gene: GLI3
Rare multisystem ciliopathy disorders DCDC2 Andrea Nemeth reviewed gene: DCDC2
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Intellectual disability IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Early onset or syndromic epilepsy UNC80 Sarah Leigh marked gene: UNC80 as ready
Early onset or syndromic epilepsy UNC80 Sarah Leigh classified UNC80 as Green List (high evidence)
Early onset or syndromic epilepsy VLDLR Sarah Leigh classified VLDLR as Amber List (moderate evidence)
Early onset or syndromic epilepsy VLDLR Sarah Leigh classified VLDLR as Red List (low evidence)
Early onset or syndromic epilepsy WDR62 Sarah Leigh marked gene: WDR62 as ready
Early onset or syndromic epilepsy WDR62 Sarah Leigh classified WDR62 as Green List (high evidence)
Early onset or syndromic epilepsy WDR73 Sarah Leigh marked gene: WDR73 as ready
Early onset or syndromic epilepsy WDR73 Sarah Leigh classified WDR73 as Green List (high evidence)
Early onset or syndromic epilepsy YWHAG Sarah Leigh marked gene: YWHAG as ready
Early onset or syndromic epilepsy YWHAG Sarah Leigh classified YWHAG as Green List (high evidence)
Early onset or syndromic epilepsy ZBTB18 Sarah Leigh marked gene: ZBTB18 as ready
Early onset or syndromic epilepsy ZBTB18 Sarah Leigh classified ZBTB18 as Green List (high evidence)