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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)
Early onset or syndromic epilepsy CAMK2G Sarah Leigh marked gene: CAMK2G as ready
Early onset or syndromic epilepsy CAMK2G Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy DEAF1 Sarah Leigh marked gene: DEAF1 as ready
Early onset or syndromic epilepsy DEAF1 Sarah Leigh classified DEAF1 as Green List (high evidence)
Early onset or syndromic epilepsy DEAF1 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy SLC1A4 Zornitza Stark Added gene to panel
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Early onset or syndromic epilepsy NEDD4L Sarah Leigh marked gene: NEDD4L as ready
Early onset or syndromic epilepsy NRXN1 Sarah Leigh marked gene: NRXN1 as ready
Early onset or syndromic epilepsy NRXN1 Sarah Leigh classified NRXN1 as Green List (high evidence)
Early onset or syndromic epilepsy FLNA Sarah Leigh marked gene: FLNA as ready
Early onset or syndromic epilepsy FLNA Sarah Leigh classified FLNA as Green List (high evidence)
Early onset or syndromic epilepsy KCNA1 Sarah Leigh marked gene: KCNA1 as ready
Early onset or syndromic epilepsy KCNA1 Sarah Leigh classified KCNA1 as Green List (high evidence)
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh marked gene: EEF1A2 as ready
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Early onset or syndromic epilepsy EEF1A2 Sarah Leigh classified EEF1A2 as Green List (high evidence)
Neonatal cholestasis Sarah Leigh promoted panel to version 1.0
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Neonatal cholestasis ATP7B Sarah Leigh marked gene: ATP7B as ready
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Green List (high evidence)
Pulmonary arterial hypertension AQP1 Louise Daugherty edited their review of gene: AQP1
Pulmonary arterial hypertension ATP13A3 Louise Daugherty classified ATP13A3 as Green List (high evidence)
Pulmonary arterial hypertension ATP13A3 Louise Daugherty edited their review of gene: ATP13A3
Pulmonary arterial hypertension GDF2 Louise Daugherty edited their review of gene: GDF2
Pulmonary arterial hypertension GDF2 Louise Daugherty classified GDF2 as Green List (high evidence)
Pulmonary arterial hypertension SOX17 Louise Daugherty edited their review of gene: SOX17
Pulmonary arterial hypertension SOX17 Louise Daugherty classified SOX17 as Green List (high evidence)
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark edited their review of gene: IRF2BPL
Rare multisystem ciliopathy disorders CEP120 Anna de Burca marked gene: CEP120 as ready
Rare multisystem ciliopathy disorders CEP120 Anna de Burca classified CEP120 as Green List (high evidence)
Rare multisystem ciliopathy disorders CEP120 Anna de Burca classified CEP120 as Green List (high evidence)
Intellectual disability PIGH Zornitza Stark reviewed gene: PIGH
Early onset or syndromic epilepsy PIGH Zornitza Stark reviewed gene: PIGH
Mitochondrial disorders WARS2 Zornitza Stark reviewed gene: WARS2
Mitochondrial disorders VPS13C Zornitza Stark reviewed gene: VPS13C
Mitochondrial disorders UQCRC2 Zornitza Stark reviewed gene: UQCRC2
Mitochondrial disorders UQCC2 Zornitza Stark reviewed gene: UQCC2
Mitochondrial disorders TUFM Zornitza Stark reviewed gene: TUFM
Mitochondrial disorders TRMT5 Zornitza Stark reviewed gene: TRMT5
Mitochondrial disorders TRIT1 Zornitza Stark reviewed gene: TRIT1
Mitochondrial disorders TMEM126B Zornitza Stark reviewed gene: TMEM126B
Mitochondrial disorders TIMM50 Zornitza Stark Added gene to panel
Mitochondrial disorders STAT2 Zornitza Stark reviewed gene: STAT2
Mitochondrial disorders SLC25A42 Zornitza Stark reviewed gene: SLC25A42
Mitochondrial disorders SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Mitochondrial disorders SLC25A1 Zornitza Stark reviewed gene: SLC25A1
Mitochondrial disorders SDHAF2 Zornitza Stark reviewed gene: SDHAF2
Mitochondrial disorders SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Mitochondrial disorders RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1
Mitochondrial disorders QRSL1 Zornitza Stark reviewed gene: QRSL1
Mitochondrial disorders QARS Zornitza Stark reviewed gene: QARS
Mitochondrial disorders PUS1 Zornitza Stark reviewed gene: PUS1
Mitochondrial disorders PNPLA8 Zornitza Stark reviewed gene: PNPLA8
Early onset dystonia HPCA Zornitza Stark Added gene to panel
Mitochondrial disorders PNPLA4 Zornitza Stark reviewed gene: PNPLA4
Mitochondrial disorders PDK3 Zornitza Stark reviewed gene: PDK3
Mitochondrial disorders PARS2 Zornitza Stark reviewed gene: PARS2
Mitochondrial disorders NFS1 Zornitza Stark reviewed gene: NFS1
Mitochondrial disorders NDUFA9 Zornitza Stark reviewed gene: NDUFA9
Mitochondrial disorders NDUFA4 Zornitza Stark reviewed gene: NDUFA4
Mitochondrial disorders NAXE Zornitza Stark reviewed gene: NAXE
Mitochondrial disorders MTFMT Zornitza Stark reviewed gene: MTFMT
Mitochondrial disorders MRPS34 Zornitza Stark Added gene to panel
Mitochondrial disorders MRPS16 Zornitza Stark reviewed gene: MRPS16
Mitochondrial disorders MRPL44 Zornitza Stark reviewed gene: MRPL44
Mitochondrial disorders MRPL40 Zornitza Stark reviewed gene: MRPL40
Mitochondrial disorders MRPL3 Zornitza Stark reviewed gene: MRPL3
Mitochondrial disorders MRPL12 Zornitza Stark reviewed gene: MRPL12
Mitochondrial disorders MPC1 Zornitza Stark reviewed gene: MPC1
Mitochondrial disorders MICU1 Zornitza Stark reviewed gene: MICU1
Mitochondrial disorders MECR Zornitza Stark reviewed gene: MECR
Mitochondrial disorders LYRM7 Zornitza Stark reviewed gene: LYRM7
Mitochondrial disorders LIPT2 Zornitza Stark reviewed gene: LIPT2
Mitochondrial disorders LETM1 Zornitza Stark reviewed gene: LETM1
Mitochondrial disorders ISCU Zornitza Stark reviewed gene: ISCU
Mitochondrial disorders ISCA2 Zornitza Stark reviewed gene: ISCA2
Mitochondrial disorders IER3IP1 Zornitza Stark reviewed gene: IER3IP1
Mitochondrial disorders IDH3B Zornitza Stark reviewed gene: IDH3B
Mitochondrial disorders IARS2 Zornitza Stark reviewed gene: IARS2
Mitochondrial disorders HSD17B10 Zornitza Stark reviewed gene: HSD17B10
Mitochondrial disorders HARS2 Zornitza Stark reviewed gene: HARS2
Mitochondrial disorders GFM2 Zornitza Stark reviewed gene: GFM2
Intellectual disability IGF1R Louise Daugherty classified IGF1R as Green List (high evidence)
Intellectual disability NRXN2 Louise Daugherty classified NRXN2 as Amber List (moderate evidence)
Intellectual disability NRXN2 Louise Daugherty commented on gene: NRXN2
Clefting TGFBR2 Louise Daugherty classified TGFBR2 as Green List (high evidence)
Neonatal cholestasis TALDO1 Anna de Burca classified TALDO1 as Green List (high evidence)
Neonatal cholestasis TALDO1 Anna de Burca classified TALDO1 as Green List (high evidence)
Mitochondrial disorders FXN Zornitza Stark reviewed gene: FXN
Mitochondrial disorders FDXR Zornitza Stark Added gene to panel
Mitochondrial disorders FDX2 Zornitza Stark reviewed gene: FDX2
Mitochondrial disorders DHTKD1 Zornitza Stark reviewed gene: DHTKD1
Mitochondrial disorders DARS Zornitza Stark reviewed gene: DARS
Mitochondrial disorders CYCS Zornitza Stark reviewed gene: CYCS
Mitochondrial disorders CHKB Zornitza Stark reviewed gene: CHKB
Neonatal cholestasis ATP7B Sarah Leigh edited their review of gene: ATP7B
Neonatal cholestasis PEX7 Sarah Leigh commented on gene: PEX7
Neonatal cholestasis HFE Sarah Leigh commented on gene: HFE
Severe microcephaly RMI1 Sarah Leigh classified RMI1 as Amber List (moderate evidence)
Severe microcephaly RMI1 Sarah Leigh Added gene to panel
Severe microcephaly TOP3A Sarah Leigh classified TOP3A as Green List (high evidence)
Severe microcephaly TOP3A Sarah Leigh Added gene to panel
Mitochondrial disorders VPS13C Sarah Leigh Added gene to panel
Mitochondrial disorders SLC25A42 Sarah Leigh Added gene to panel
Mitochondrial disorders RTN4IP1 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA8 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA4 Sarah Leigh Added gene to panel
Mitochondrial disorders NAXE Sarah Leigh Added gene to panel
Mitochondrial disorders MICU1 Sarah Leigh Added gene to panel
Mitochondrial disorders MECR Sarah Leigh Added gene to panel
Mitochondrial disorders IDH3B Sarah Leigh Added gene to panel
Mitochondrial disorders HSD17B10 Sarah Leigh Added gene to panel
Mitochondrial disorders ERCC6L2 Sarah Leigh Added gene to panel
Mitochondrial disorders DTD1 Sarah Leigh Added gene to panel
Mitochondrial disorders CARS2 Zornitza Stark reviewed gene: CARS2
Mitochondrial disorders C1QBP Zornitza Stark Added gene to panel
Mitochondrial disorders C19orf12 Zornitza Stark reviewed gene: C19orf12
Mitochondrial disorders BTD Zornitza Stark reviewed gene: BTD
Mitochondrial disorders APTX Zornitza Stark reviewed gene: APTX
Mitochondrial disorders ANO10 Zornitza Stark reviewed gene: ANO10
Intellectual disability BCL11B Konstantinos Varvagiannis Added gene to panel
Haematological malignancies cancer susceptibility RAD51C Ellen McDonagh classified RAD51C as Amber List (moderate evidence)
Adult solid tumours for rare disease ATM Helen Brittain reviewed gene: ATM
Adult solid tumours for rare disease CHEK2 Helen Brittain classified CHEK2 as Amber List (moderate evidence)
Adult solid tumours for rare disease CHEK2 Helen Brittain reviewed gene: CHEK2
Non-syndromic familial congenital anorectal malformations CDX2 Eleanor Williams Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RASGRP1 Zornitza Stark reviewed gene: RASGRP1
Gastrointestinal epithelial barrier disorders EPCAM Olivia Niblock classified EPCAM as Green List (high evidence)
Early onset or syndromic epilepsy ZBTB18 Zornitza Stark reviewed gene: ZBTB18
Early onset or syndromic epilepsy YWHAG Zornitza Stark reviewed gene: YWHAG
Early onset or syndromic epilepsy WDR73 Zornitza Stark reviewed gene: WDR73
Early onset or syndromic epilepsy WDR62 Zornitza Stark reviewed gene: WDR62
Early onset or syndromic epilepsy VLDLR Zornitza Stark reviewed gene: VLDLR
Early onset or syndromic epilepsy UNC80 Zornitza Stark reviewed gene: UNC80
Early onset or syndromic epilepsy UBA5 Zornitza Stark reviewed gene: UBA5
Early onset or syndromic epilepsy TUBG1 Zornitza Stark reviewed gene: TUBG1
Early onset or syndromic epilepsy TUBB4A Zornitza Stark reviewed gene: TUBB4A
Haematological malignancies for rare disease Ellen McDonagh promoted panel to version 1.0
Haematological malignancies for rare disease RAD51C Ellen McDonagh classified RAD51C as Amber List (moderate evidence)
Early onset or syndromic epilepsy TUBB3 Zornitza Stark reviewed gene: TUBB3
Early onset or syndromic epilepsy TUBB2B Zornitza Stark reviewed gene: TUBB2B
Early onset or syndromic epilepsy TUBB Zornitza Stark reviewed gene: TUBB
Early onset or syndromic epilepsy TUBA8 Zornitza Stark reviewed gene: TUBA8
Early onset or syndromic epilepsy TUBA1A Zornitza Stark reviewed gene: TUBA1A
Early onset or syndromic epilepsy TSFM Zornitza Stark reviewed gene: TSFM
Early onset or syndromic epilepsy TSEN54 Zornitza Stark reviewed gene: TSEN54
Early onset or syndromic epilepsy TSEN34 Zornitza Stark reviewed gene: TSEN34
Early onset or syndromic epilepsy TSEN2 Zornitza Stark reviewed gene: TSEN2
Early onset or syndromic epilepsy TSEN15 Zornitza Stark reviewed gene: TSEN15
Early onset or syndromic epilepsy TSC1 Zornitza Stark reviewed gene: TSC1
Early onset or syndromic epilepsy TRIP13 Zornitza Stark reviewed gene: TRIP13
Early onset or syndromic epilepsy TRIM8 Zornitza Stark reviewed gene: TRIM8
Early onset or syndromic epilepsy TREX1 Zornitza Stark reviewed gene: TREX1
Early onset or syndromic epilepsy TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B
Early onset or syndromic epilepsy TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TMEM70 Zornitza Stark reviewed gene: TMEM70
Early onset or syndromic epilepsy TIMM50 Zornitza Stark reviewed gene: TIMM50
Early onset or syndromic epilepsy TFE3 Zornitza Stark reviewed gene: TFE3
Early onset or syndromic epilepsy TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1
Early onset or syndromic epilepsy TBCK Zornitza Stark reviewed gene: TBCK
Early onset or syndromic epilepsy TBCD Zornitza Stark reviewed gene: TBCD
Early onset or syndromic epilepsy TBC1D20 Zornitza Stark reviewed gene: TBC1D20
Early onset or syndromic epilepsy SURF1 Zornitza Stark reviewed gene: SURF1
Early onset or syndromic epilepsy SUCLG1 Zornitza Stark reviewed gene: SUCLG1
Early onset or syndromic epilepsy SUCLA2 Zornitza Stark reviewed gene: SUCLA2
Early onset or syndromic epilepsy STAMBP Zornitza Stark reviewed gene: STAMBP
Early onset or syndromic epilepsy STAG1 Zornitza Stark reviewed gene: STAG1
Early onset or syndromic epilepsy ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5
Early onset or syndromic epilepsy ST3GAL3 Zornitza Stark reviewed gene: ST3GAL3
Early onset or syndromic epilepsy SPR Zornitza Stark reviewed gene: SPR
Early onset or syndromic epilepsy SNORD118 Zornitza Stark reviewed gene: SNORD118
Non-syndromic familial congenital anorectal malformations EBF2 Eleanor Williams Added gene to panel
Neonatal cholestasis ABCD3 Sarah Leigh marked gene: ABCD3 as ready
Neonatal cholestasis ABCD3 Sarah Leigh Added gene to panel
Neonatal cholestasis SLC40A1 Sarah Leigh marked gene: SLC40A1 as ready
Neonatal cholestasis SLC30A10 Sarah Leigh marked gene: SLC30A10 as ready
Early onset or syndromic epilepsy SMS Zornitza Stark reviewed gene: SMS
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SMC1A Zornitza Stark reviewed gene: SMC1A
Early onset or syndromic epilepsy SLC6A8 Zornitza Stark reviewed gene: SLC6A8
Neonatal cholestasis SLC27A5 Sarah Leigh marked gene: SLC27A5 as ready
Early onset or syndromic epilepsy SLC6A5 Zornitza Stark reviewed gene: SLC6A5
Neonatal cholestasis SLC10A2 Sarah Leigh marked gene: SLC10A2 as ready
Early onset or syndromic epilepsy SLC45A1 Zornitza Stark reviewed gene: SLC45A1
Neonatal cholestasis SMPD1 Sarah Leigh marked gene: SMPD1 as ready
Early onset or syndromic epilepsy SLC35A1 Zornitza Stark reviewed gene: SLC35A1
Neonatal cholestasis SMPD1 Sarah Leigh classified SMPD1 as Green List (high evidence)
Early onset or syndromic epilepsy SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Early onset or syndromic epilepsy SIX3 Zornitza Stark reviewed gene: SIX3
Early onset or syndromic epilepsy SHH Zornitza Stark reviewed gene: SHH
Early onset or syndromic epilepsy SETD1B Zornitza Stark reviewed gene: SETD1B
Early onset or syndromic epilepsy SETBP1 Zornitza Stark reviewed gene: SETBP1
Neonatal cholestasis TMEM216 Sarah Leigh marked gene: TMEM216 as ready
Early onset or syndromic epilepsy SEPSECS Zornitza Stark reviewed gene: SEPSECS
Neonatal cholestasis TFR2 Sarah Leigh marked gene: TFR2 as ready
Neonatal cholestasis UTP4 Sarah Leigh marked gene: UTP4 as ready
Early onset or syndromic epilepsy SDHA Zornitza Stark reviewed gene: SDHA
Early onset or syndromic epilepsy SCO2 Zornitza Stark reviewed gene: SCO2
Early onset or syndromic epilepsy SCO1 Zornitza Stark reviewed gene: SCO1
Thyroid cancer pertinent cancer susceptibility WRN Ellen McDonagh commented on gene: WRN
Sarcoma cancer susceptibility T Ellen McDonagh commented on gene: T
Sarcoma cancer susceptibility SQSTM1 Ellen McDonagh commented on gene: SQSTM1
Sarcoma cancer susceptibility RECQL4 Ellen McDonagh commented on gene: RECQL4
Sarcoma cancer susceptibility PDGFRA Ellen McDonagh commented on gene: PDGFRA
Sarcoma cancer susceptibility MTAP Ellen McDonagh commented on gene: MTAP
Renal cancer pertinent cancer susceptibility PMS2 Ellen McDonagh commented on gene: PMS2
Renal cancer pertinent cancer susceptibility MSH6 Ellen McDonagh commented on gene: MSH6
Renal cancer pertinent cancer susceptibility MSH2 Ellen McDonagh commented on gene: MSH2
Renal cancer pertinent cancer susceptibility MLH1 Ellen McDonagh commented on gene: MLH1
Prostate cancer pertinent cancer susceptibility PMS2 Ellen McDonagh commented on gene: PMS2
Prostate cancer pertinent cancer susceptibility MSH6 Ellen McDonagh commented on gene: MSH6
Prostate cancer pertinent cancer susceptibility MSH2 Ellen McDonagh commented on gene: MSH2
Prostate cancer pertinent cancer susceptibility MLH1 Ellen McDonagh commented on gene: MLH1
Haematological malignancies cancer susceptibility RMRP Ellen McDonagh commented on gene: RMRP
Head and neck cancer pertinent cancer susceptibility SLX4 Ellen McDonagh classified SLX4 as Green List (high evidence)
Head and neck cancer pertinent cancer susceptibility SLX4 Ellen McDonagh Added gene to panel
Haematological malignancies cancer susceptibility RAD51C Ellen McDonagh commented on gene: RAD51C
Early onset or syndromic epilepsy SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Early onset or syndromic epilepsy RUSC2 Zornitza Stark reviewed gene: RUSC2
Early onset or syndromic epilepsy RTTN Zornitza Stark reviewed gene: RTTN
Early onset or syndromic epilepsy RRM2B Zornitza Stark reviewed gene: RRM2B
Early onset or syndromic epilepsy RORB Zornitza Stark reviewed gene: RORB
Adult solid tumours cancer susceptibility CHEK2 Ellen McDonagh classified CHEK2 as Amber List (moderate evidence)
Adult solid tumours cancer susceptibility CDKN1B Ellen McDonagh commented on gene: CDKN1B
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Green List (high evidence)
Adult solid tumours for rare disease CDKN1B Ellen McDonagh commented on gene: CDKN1B
Adult solid tumours for rare disease CHEK2 Ellen McDonagh classified CHEK2 as Red List (low evidence)
Early onset or syndromic epilepsy RORA Zornitza Stark reviewed gene: RORA
Early onset or syndromic epilepsy ROGDI Zornitza Stark reviewed gene: ROGDI
Early onset or syndromic epilepsy RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC
Early onset or syndromic epilepsy RNASET2 Zornitza Stark reviewed gene: RNASET2
Early onset or syndromic epilepsy RNASEH2C Zornitza Stark reviewed gene: RNASEH2C
Early onset or syndromic epilepsy RNASEH2B Zornitza Stark reviewed gene: RNASEH2B
Early onset or syndromic epilepsy RNASEH2A Zornitza Stark reviewed gene: RNASEH2A
Early onset or syndromic epilepsy RMND1 Zornitza Stark reviewed gene: RMND1
Early onset or syndromic epilepsy RFT1 Zornitza Stark reviewed gene: RFT1
Early onset or syndromic epilepsy RARS2 Zornitza Stark reviewed gene: RARS2
Early onset or syndromic epilepsy RANBP2 Zornitza Stark reviewed gene: RANBP2
Early onset or syndromic epilepsy RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2
Early onset or syndromic epilepsy RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1
Early onset or syndromic epilepsy RAB18 Zornitza Stark reviewed gene: RAB18
Early onset or syndromic epilepsy RAB11B Zornitza Stark reviewed gene: RAB11B
Early onset or syndromic epilepsy QDPR Zornitza Stark reviewed gene: QDPR
Early onset or syndromic epilepsy PTS Zornitza Stark reviewed gene: PTS
Early onset or syndromic epilepsy PTF1A Zornitza Stark reviewed gene: PTF1A
Early onset or syndromic epilepsy PTEN Zornitza Stark reviewed gene: PTEN
Early onset or syndromic epilepsy PSPH Zornitza Stark reviewed gene: PSPH
Early onset or syndromic epilepsy PSAT1 Zornitza Stark reviewed gene: PSAT1
Early onset or syndromic epilepsy PSAP Zornitza Stark reviewed gene: PSAP
Early onset or syndromic epilepsy PROSC Zornitza Stark reviewed gene: PROSC
Early onset or syndromic epilepsy PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1
Early onset or syndromic epilepsy PPT1 Zornitza Stark reviewed gene: PPT1
Early onset or syndromic epilepsy PPP3CA Zornitza Stark reviewed gene: PPP3CA
Early onset or syndromic epilepsy POMT2 Zornitza Stark reviewed gene: POMT2
Early onset or syndromic epilepsy POMT1 Zornitza Stark reviewed gene: POMT1
Early onset or syndromic epilepsy POMGNT1 Zornitza Stark reviewed gene: POMGNT1
Early onset or syndromic epilepsy PMM2 Zornitza Stark reviewed gene: PMM2
Early onset or syndromic epilepsy PLAA Zornitza Stark reviewed gene: PLAA
Early onset or syndromic epilepsy PIK3R2 Zornitza Stark reviewed gene: PIK3R2
Early onset or syndromic epilepsy PIK3CA Zornitza Stark reviewed gene: PIK3CA
Early onset or syndromic epilepsy PIGW Zornitza Stark reviewed gene: PIGW
Early onset or syndromic epilepsy CUX2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability CUX2 Konstantinos Varvagiannis reviewed gene: CUX2
Intellectual disability RORA Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy RORA Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PIGO Zornitza Stark reviewed gene: PIGO
Early onset or syndromic epilepsy PIGC Zornitza Stark reviewed gene: PIGC
Early onset or syndromic epilepsy PHGDH Zornitza Stark reviewed gene: PHGDH
Early onset or syndromic epilepsy PEX7 Zornitza Stark reviewed gene: PEX7
Early onset or syndromic epilepsy PEX1 Zornitza Stark reviewed gene: PEX1
Early onset or syndromic epilepsy PET100 Zornitza Stark reviewed gene: PET100
Early onset or syndromic epilepsy PDSS2 Zornitza Stark reviewed gene: PDSS2
Early onset or syndromic epilepsy PDHX Zornitza Stark reviewed gene: PDHX
Early onset or syndromic epilepsy PDHA1 Zornitza Stark reviewed gene: PDHA1
Early onset or syndromic epilepsy PCLO Zornitza Stark reviewed gene: PCLO
Early onset or syndromic epilepsy PCDH12 Zornitza Stark reviewed gene: PCDH12
Early onset or syndromic epilepsy PCCB Zornitza Stark reviewed gene: PCCB
Early onset or syndromic epilepsy PCCA Zornitza Stark reviewed gene: PCCA
Early onset or syndromic epilepsy PAH Zornitza Stark reviewed gene: PAH
Early onset or syndromic epilepsy PAFAH1B1 Zornitza Stark reviewed gene: PAFAH1B1
Early onset or syndromic epilepsy PACS2 Zornitza Stark reviewed gene: PACS2
Early onset or syndromic epilepsy PACS1 Zornitza Stark reviewed gene: PACS1
Early onset or syndromic epilepsy OTX2 Zornitza Stark reviewed gene: OTX2
Early onset or syndromic epilepsy OPHN1 Zornitza Stark reviewed gene: OPHN1
Early onset or syndromic epilepsy OCLN Zornitza Stark reviewed gene: OCLN
Early onset or syndromic epilepsy NUBPL Zornitza Stark reviewed gene: NUBPL
Early onset or syndromic epilepsy NSDHL Zornitza Stark reviewed gene: NSDHL
Early onset or syndromic epilepsy NSD1 Zornitza Stark reviewed gene: NSD1
Early onset or syndromic epilepsy NRXN1 Zornitza Stark reviewed gene: NRXN1
Early onset or syndromic epilepsy NRAS Zornitza Stark reviewed gene: NRAS
Early onset or syndromic epilepsy NPRL3 Zornitza Stark reviewed gene: NPRL3
Early onset or syndromic epilepsy NPRL2 Zornitza Stark reviewed gene: NPRL2
Early onset or syndromic epilepsy NHLRC1 Zornitza Stark reviewed gene: NHLRC1
Early onset or syndromic epilepsy NGLY1 Zornitza Stark reviewed gene: NGLY1
Early onset or syndromic epilepsy NEDD4L Zornitza Stark reviewed gene: NEDD4L
Early onset or syndromic epilepsy NECAP1 Zornitza Stark commented on gene: NECAP1
Early onset or syndromic epilepsy NECAP1 Zornitza Stark reviewed gene: NECAP1
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark commented on gene: NDUFV1
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark reviewed gene: NDUFV1
Early onset or syndromic epilepsy NDUFS8 Zornitza Stark reviewed gene: NDUFS8
Early onset or syndromic epilepsy NDUFS7 Zornitza Stark reviewed gene: NDUFS7
Early onset or syndromic epilepsy NDUFS6 Zornitza Stark reviewed gene: NDUFS6
Early onset or syndromic epilepsy NDUFS4 Zornitza Stark reviewed gene: NDUFS4
Early onset or syndromic epilepsy NDUFS2 Zornitza Stark reviewed gene: NDUFS2
Early onset or syndromic epilepsy NDUFS1 Zornitza Stark reviewed gene: NDUFS1
Early onset or syndromic epilepsy NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5
Early onset or syndromic epilepsy NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4
Early onset or syndromic epilepsy NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3
Early onset or syndromic epilepsy NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2
Early onset or syndromic epilepsy NDUFA2 Zornitza Stark reviewed gene: NDUFA2
Early onset or syndromic epilepsy NDUFA10 Zornitza Stark reviewed gene: NDUFA10
Early onset or syndromic epilepsy NDUFA1 Zornitza Stark reviewed gene: NDUFA1
Early onset or syndromic epilepsy NDP Zornitza Stark reviewed gene: NDP
Early onset or syndromic epilepsy NDE1 Zornitza Stark reviewed gene: NDE1
Early onset or syndromic epilepsy NARS2 Zornitza Stark reviewed gene: NARS2
Early onset or syndromic epilepsy NAGA Zornitza Stark reviewed gene: NAGA
Early onset or syndromic epilepsy PACS1 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Intellectual disability PACS2 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy MTR Zornitza Stark reviewed gene: MTR
Early onset or syndromic epilepsy MTHFR Zornitza Stark reviewed gene: MTHFR
Early onset or syndromic epilepsy MPDU1 Zornitza Stark reviewed gene: MPDU1
Early onset or syndromic epilepsy MOCS2 Zornitza Stark reviewed gene: MOCS2
Early onset or syndromic epilepsy MOCS1 Zornitza Stark reviewed gene: MOCS1
Early onset or syndromic epilepsy MMADHC Zornitza Stark reviewed gene: MMADHC
Early onset or syndromic epilepsy MMACHC Zornitza Stark reviewed gene: MMACHC
Early onset or syndromic epilepsy MLC1 Zornitza Stark reviewed gene: MLC1
Early onset or syndromic epilepsy MED12 Zornitza Stark reviewed gene: MED12
Early onset or syndromic epilepsy MAPK10 Zornitza Stark reviewed gene: MAPK10
Early onset or syndromic epilepsy MAP2K2 Zornitza Stark reviewed gene: MAP2K2
Early onset or syndromic epilepsy MAP2K1 Zornitza Stark reviewed gene: MAP2K1
Early onset or syndromic epilepsy MANBA Zornitza Stark reviewed gene: MANBA
Early onset or syndromic epilepsy LNPK Zornitza Stark reviewed gene: LNPK
Early onset or syndromic epilepsy LIPT2 Zornitza Stark reviewed gene: LIPT2
Early onset or syndromic epilepsy LIAS Zornitza Stark reviewed gene: LIAS
Early onset or syndromic epilepsy LARGE1 Zornitza Stark reviewed gene: LARGE1
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Neonatal cholestasis TALDO1 Eleanor Williams commented on gene: TALDO1
Early onset or syndromic epilepsy GRIA4 Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy KRAS Zornitza Stark reviewed gene: KRAS
Early onset or syndromic epilepsy KPTN Zornitza Stark reviewed gene: KPTN
Early onset or syndromic epilepsy KIF5C Zornitza Stark reviewed gene: KIF5C
Early onset or syndromic epilepsy KIF2A Zornitza Stark reviewed gene: KIF2A
Early onset or syndromic epilepsy KIF1A Zornitza Stark reviewed gene: KIF1A
Early onset or syndromic epilepsy KIAA1109 Zornitza Stark reviewed gene: KIAA1109
Early onset or syndromic epilepsy KCTD3 Zornitza Stark reviewed gene: KCTD3
Early onset or syndromic epilepsy KCNQ5 Zornitza Stark reviewed gene: KCNQ5
Early onset or syndromic epilepsy KCNMA1 Zornitza Stark reviewed gene: KCNMA1
Early onset or syndromic epilepsy KCNJ11 Zornitza Stark reviewed gene: KCNJ11
Early onset or syndromic epilepsy KAT5 Zornitza Stark reviewed gene: KAT5
Early onset or syndromic epilepsy ISPD Zornitza Stark reviewed gene: ISPD
Early onset or syndromic epilepsy IRF2BPL Zornitza Stark reviewed gene: IRF2BPL
Early onset or syndromic epilepsy IKBKG Zornitza Stark reviewed gene: IKBKG
Early onset or syndromic epilepsy IFIH1 Zornitza Stark reviewed gene: IFIH1
Neonatal cholestasis TFR2 Eleanor Williams classified TFR2 as Amber List (moderate evidence)
Neonatal cholestasis TFR2 Eleanor Williams commented on gene: TFR2
Early onset or syndromic epilepsy FBXO11 Konstantinos Varvagiannis Added gene to panel
Intellectual disability FBXO11 Konstantinos Varvagiannis Added gene to panel
Intellectual disability SYT1 Louise Daugherty classified SYT1 as Green List (high evidence)
Intellectual disability SYT1 Louise Daugherty commented on gene: SYT1
Intellectual disability SYT1 Louise Daugherty edited their review of gene: SYT1
Neonatal cholestasis SLC10A1 Sarah Leigh marked gene: SLC10A1 as ready
Neonatal cholestasis TMEM216 Eleanor Williams classified TMEM216 as Amber List (moderate evidence)
Neonatal cholestasis SCP2 Sarah Leigh marked gene: SCP2 as ready
Neonatal cholestasis NPHP4 Sarah Leigh marked gene: NPHP4 as ready
Neonatal cholestasis MVK Sarah Leigh marked gene: MVK as ready
Neonatal cholestasis MVK Sarah Leigh classified MVK as Green List (high evidence)
Neonatal cholestasis MPI Sarah Leigh marked gene: MPI as ready
Neonatal cholestasis MPI Sarah Leigh classified MPI as Green List (high evidence)
Neonatal cholestasis TMEM216 Eleanor Williams commented on gene: TMEM216
Neonatal cholestasis TMEM216 Eleanor Williams commented on gene: TMEM216
Neonatal cholestasis INVS Sarah Leigh marked gene: INVS as ready
Neonatal cholestasis INVS Sarah Leigh classified INVS as Green List (high evidence)
Neonatal cholestasis UTP4 Eleanor Williams commented on gene: UTP4
Neonatal cholestasis IARS Sarah Leigh marked gene: IARS as ready
Neonatal cholestasis IARS Sarah Leigh classified IARS as Amber List (moderate evidence)
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis edited their review of gene: IRF2BPL
Intellectual disability CCDC8 Louise Daugherty reviewed gene: CCDC8
Early onset or syndromic epilepsy IRF2BPL Konstantinos Varvagiannis Added gene to panel
Intellectual disability CDKN1C Louise Daugherty edited their review of gene: CDKN1C
Intellectual disability IRF2BPL Konstantinos Varvagiannis Added gene to panel
Neonatal cholestasis HFE2 Sarah Leigh marked gene: HFE2 as ready
Neonatal cholestasis HFE2 Sarah Leigh classified HFE2 as Amber List (moderate evidence)
Neonatal cholestasis HFE2 Sarah Leigh commented on gene: HFE2
Neonatal cholestasis HFE Sarah Leigh classified HFE as Amber List (moderate evidence)
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Amber List (moderate evidence)
Early onset or syndromic epilepsy H3F3B Konstantinos Varvagiannis reviewed gene: H3F3B
Neonatal cholestasis HFE Sarah Leigh marked gene: HFE as ready
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Red List (low evidence)
Early onset or syndromic epilepsy HSPD1 Zornitza Stark reviewed gene: HSPD1
Early onset or syndromic epilepsy HSD17B4 Zornitza Stark reviewed gene: HSD17B4
Early onset or syndromic epilepsy HRAS Zornitza Stark reviewed gene: HRAS
Early onset or syndromic epilepsy HPRT1 Zornitza Stark reviewed gene: HPRT1
Early onset or syndromic epilepsy HOXA1 Zornitza Stark reviewed gene: HOXA1
Early onset or syndromic epilepsy HLCS Zornitza Stark reviewed gene: HLCS
Early onset or syndromic epilepsy HEXB Zornitza Stark reviewed gene: HEXB
Early onset or syndromic epilepsy HEXA Zornitza Stark reviewed gene: HEXA
Early onset or syndromic epilepsy HEPACAM Zornitza Stark reviewed gene: HEPACAM
Early onset or syndromic epilepsy HCN2 Zornitza Stark reviewed gene: HCN2
Early onset or syndromic epilepsy HCFC1 Zornitza Stark reviewed gene: HCFC1
Early onset or syndromic epilepsy HCCS Zornitza Stark reviewed gene: HCCS
Early onset or syndromic epilepsy HAX1 Zornitza Stark reviewed gene: HAX1
Early onset or syndromic epilepsy H3F3B Zornitza Stark reviewed gene: H3F3B
Early onset or syndromic epilepsy H3F3A Zornitza Stark reviewed gene: H3F3A
Early onset or syndromic epilepsy LNPK Konstantinos Varvagiannis Added gene to panel
Intellectual disability LNPK Konstantinos Varvagiannis Added gene to panel
Neonatal cholestasis HAMP Sarah Leigh marked gene: HAMP as ready
Neonatal cholestasis HAMP Sarah Leigh classified HAMP as Amber List (moderate evidence)
Neonatal cholestasis HADHA Sarah Leigh marked gene: HADHA as ready
Neonatal cholestasis HADHA Sarah Leigh classified HADHA as Green List (high evidence)
Neonatal cholestasis GPBAR1 Sarah Leigh marked gene: GPBAR1 as ready
Neonatal cholestasis GBE1 Sarah Leigh marked gene: GBE1 as ready
Neonatal cholestasis GBE1 Sarah Leigh classified GBE1 as Green List (high evidence)
Neonatal cholestasis GBA Sarah Leigh marked gene: GBA as ready
Neonatal cholestasis GBA Sarah Leigh classified GBA as Green List (high evidence)
Neonatal cholestasis GALT Sarah Leigh marked gene: GALT as ready
Neonatal cholestasis GALT Sarah Leigh classified GALT as Green List (high evidence)
Neonatal cholestasis EPHX1 Sarah Leigh marked gene: EPHX1 as ready
Early onset or syndromic epilepsy GTPBP3 Zornitza Stark reviewed gene: GTPBP3
Early onset or syndromic epilepsy GRIN2D Zornitza Stark reviewed gene: GRIN2D
Early onset or syndromic epilepsy GPHN Zornitza Stark reviewed gene: GPHN
Early onset or syndromic epilepsy GOSR2 Zornitza Stark reviewed gene: GOSR2
Early onset or syndromic epilepsy GNB1 Zornitza Stark reviewed gene: GNB1
Early onset or syndromic epilepsy GNAQ Zornitza Stark reviewed gene: GNAQ
Early onset or syndromic epilepsy GM2A Zornitza Stark reviewed gene: GM2A
Early onset or syndromic epilepsy GLUL Zornitza Stark reviewed gene: GLUL
Neonatal cholestasis EHHADH Sarah Leigh marked gene: EHHADH as ready
Neonatal cholestasis DHCR7 Sarah Leigh marked gene: DHCR7 as ready
Early onset or syndromic epilepsy DHCR7 Sarah Leigh classified DHCR7 as Green List (high evidence)
Early onset or syndromic epilepsy DHCR7 Sarah Leigh Added gene to panel
Early onset or syndromic epilepsy ADPRHL2 Konstantinos Varvagiannis reviewed gene: ADPRHL2
Intellectual disability ADPRHL2 Konstantinos Varvagiannis Added gene to panel
Neonatal cholestasis CYP7A1 Sarah Leigh marked gene: CYP7A1 as ready
Early onset or syndromic epilepsy GLUD1 Zornitza Stark reviewed gene: GLUD1
Early onset or syndromic epilepsy GLI3 Zornitza Stark reviewed gene: GLI3
Early onset or syndromic epilepsy GLDC Zornitza Stark reviewed gene: GLDC
Early onset or syndromic epilepsy GLB1 Zornitza Stark reviewed gene: GLB1
Early onset or syndromic epilepsy GFM1 Zornitza Stark reviewed gene: GFM1
Early onset or syndromic epilepsy GFAP Zornitza Stark reviewed gene: GFAP
Neonatal cholestasis ATP7B Sarah Leigh classified ATP7B as Red List (low evidence)
Intellectual disability SYT1 Zornitza Stark reviewed gene: SYT1
Neonatal cholestasis POLG Sarah Leigh marked gene: POLG as ready
Neonatal cholestasis POLG Sarah Leigh classified POLG as Green List (high evidence)
Early onset or syndromic epilepsy COG7 Sarah Leigh marked gene: COG7 as ready
Neonatal cholestasis COG7 Sarah Leigh marked gene: COG7 as ready
Neonatal cholestasis COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Early onset or syndromic epilepsy COG7 Sarah Leigh classified COG7 as Green List (high evidence)
Monogenic hearing loss KCNQ4 Ellen McDonagh edited their review of gene: KCNQ4
Neonatal cholestasis CC2D2A Sarah Leigh classified CC2D2A as Green List (high evidence)
Neonatal cholestasis CC2D2A Sarah Leigh marked gene: CC2D2A as ready
Monogenic hearing loss KCNQ4 Ellen McDonagh edited their review of gene: KCNQ4
Early onset or syndromic epilepsy GCSH Zornitza Stark reviewed gene: GCSH
Early onset or syndromic epilepsy GCH1 Zornitza Stark reviewed gene: GCH1
Early onset or syndromic epilepsy GBA Zornitza Stark reviewed gene: GBA
Early onset or syndromic epilepsy GAMT Zornitza Stark reviewed gene: GAMT
Early onset or syndromic epilepsy GALC Zornitza Stark reviewed gene: GALC
Early onset or syndromic epilepsy GABRB2 Zornitza Stark reviewed gene: GABRB2
Early onset or syndromic epilepsy FUCA1 Zornitza Stark reviewed gene: FUCA1
Early onset or syndromic epilepsy FRRS1L Zornitza Stark reviewed gene: FRRS1L
Early onset or syndromic epilepsy FOXRED1 Zornitza Stark reviewed gene: FOXRED1
Early onset or syndromic epilepsy FOLR1 Zornitza Stark reviewed gene: FOLR1
Early onset or syndromic epilepsy FLNA Zornitza Stark reviewed gene: FLNA
Early onset or syndromic epilepsy FKTN Zornitza Stark reviewed gene: FKTN
Early onset or syndromic epilepsy FKRP Zornitza Stark reviewed gene: FKRP
Early onset or syndromic epilepsy FIG4 Zornitza Stark reviewed gene: FIG4
Intellectual disability TBC1D7 Konstantinos Varvagiannis reviewed gene: TBC1D7
Intellectual disability TBC1D7 Konstantinos Varvagiannis edited their review of gene: TBC1D7
Intellectual disability TUBG1 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GPHN Konstantinos Varvagiannis reviewed gene: GPHN
Intellectual disability MNX1 Konstantinos Varvagiannis reviewed gene: MNX1
Intellectual disability MTO1 Konstantinos Varvagiannis reviewed gene: MTO1
Optic neuropathy SLC52A2 Ellen McDonagh classified SLC52A2 as Green List (high evidence)
Optic neuropathy SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Optic neuropathy SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Optic neuropathy SLC52A2 Ellen McDonagh Added gene to panel
Hereditary neuropathy SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Undiagnosed metabolic disorders SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Paediatric motor neuronopathies SLC52A2 Ellen McDonagh commented on gene: SLC52A2
Rare syndromic craniosynostosis or isolated multisuture synostosis TLK2 Ellen McDonagh commented on gene: TLK2
Rare syndromic craniosynostosis or isolated multisuture synostosis TLK2 Ellen McDonagh classified TLK2 as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis TLK2 Ellen McDonagh Added gene to panel
Parkinson Disease and Complex Parkinsonism GBA Ellen McDonagh classified GBA as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis ALX4 Louise Daugherty classified ALX4 as Green List (high evidence)
Hereditary ataxia SPTBN2 Ellen McDonagh commented on gene: SPTBN2
Intellectual disability ALX4 Louise Daugherty edited their review of gene: ALX4
Rare syndromic craniosynostosis or isolated multisuture synostosis ALX4 Louise Daugherty reviewed gene: ALX4
Severe early-onset obesity MYT1L Ellen McDonagh classified MYT1L as Green List (high evidence)
Neonatal cholestasis ARG1 Sarah Leigh marked gene: ARG1 as ready
Cystic kidney disease DNAJB11 Ellen McDonagh classified DNAJB11 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty classified ATP6AP2 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty commented on gene: ATP6AP2
Neonatal cholestasis PEX7 Sarah Leigh marked gene: PEX7 as ready
Early onset or syndromic epilepsy PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Early onset or syndromic epilepsy PEX6 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX6 Sarah Leigh classified PEX6 as Green List (high evidence)
Intellectual disability CA2 Louise Daugherty commented on gene: CA2
Neonatal cholestasis PEX5 Sarah Leigh marked gene: PEX5 as ready
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Red List (low evidence)
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Neonatal cholestasis PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy PEX5 Sarah Leigh classified PEX5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy PEX5 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX3 Sarah Leigh marked gene: PEX3 as ready
Neonatal cholestasis PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Early onset or syndromic epilepsy PEX3 Sarah Leigh classified PEX3 as Green List (high evidence)
Early onset or syndromic epilepsy PEX3 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX26 Sarah Leigh marked gene: PEX26 as ready
Neonatal cholestasis PEX26 Sarah Leigh classified PEX26 as Green List (high evidence)
Early onset or syndromic epilepsy FH Zornitza Stark reviewed gene: FH
Early onset or syndromic epilepsy FGFR3 Zornitza Stark reviewed gene: FGFR3
Intellectual disability CA2 Louise Daugherty edited their review of gene: CA2
Early onset or syndromic epilepsy PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Early onset or syndromic epilepsy PEX19 Sarah Leigh Added gene to panel
Neonatal cholestasis PEX19 Sarah Leigh marked gene: PEX19 as ready
Early onset or syndromic epilepsy FGF12 Zornitza Stark reviewed gene: FGF12
Neonatal cholestasis PEX19 Sarah Leigh classified PEX19 as Green List (high evidence)
Early onset or syndromic epilepsy FBXL4 Zornitza Stark reviewed gene: FBXL4
Early onset or syndromic epilepsy FASTKD2 Zornitza Stark reviewed gene: FASTKD2
Early onset or syndromic epilepsy FARS2 Zornitza Stark reviewed gene: FARS2
Intellectual disability KIF2A Konstantinos Varvagiannis reviewed gene: KIF2A
Neonatal cholestasis PEX16 Sarah Leigh marked gene: PEX16 as ready
Early onset or syndromic epilepsy EXOSC3 Zornitza Stark reviewed gene: EXOSC3
Neonatal cholestasis PEX16 Sarah Leigh classified PEX16 as Green List (high evidence)
Early onset or syndromic epilepsy ETHE1 Zornitza Stark reviewed gene: ETHE1
Early onset or syndromic epilepsy EMX2 Zornitza Stark reviewed gene: EMX2
Early onset or syndromic epilepsy EIF2S3 Zornitza Stark reviewed gene: EIF2S3
Early onset or syndromic epilepsy EIF2B5 Zornitza Stark reviewed gene: EIF2B5
Early onset or syndromic epilepsy EIF2B4 Zornitza Stark reviewed gene: EIF2B4
Early onset or syndromic epilepsy EIF2B3 Zornitza Stark reviewed gene: EIF2B3
Early onset or syndromic epilepsy EIF2B2 Zornitza Stark reviewed gene: EIF2B2
Early onset or syndromic epilepsy EIF2B1 Zornitza Stark reviewed gene: EIF2B1
Early onset or syndromic epilepsy EEF1A2 Zornitza Stark reviewed gene: EEF1A2
Early onset or syndromic epilepsy EARS2 Zornitza Stark reviewed gene: EARS2
Limb disorders SLX4 Ellen McDonagh Added gene to panel
Limb disorders RPS7 Ellen McDonagh Added gene to panel
Limb disorders RPS29 Ellen McDonagh Added gene to panel
Limb disorders RPS28 Ellen McDonagh Added gene to panel
Limb disorders RPS26 Ellen McDonagh Added gene to panel
Limb disorders RPS24 Ellen McDonagh Added gene to panel
Limb disorders RPS19 Ellen McDonagh Added gene to panel
Limb disorders RPS17 Ellen McDonagh Added gene to panel
Limb disorders RPS10 Ellen McDonagh Added gene to panel
Limb disorders RPL5 Ellen McDonagh Added gene to panel
Limb disorders RPL35A Ellen McDonagh Added gene to panel
Limb disorders RPL26 Ellen McDonagh Added gene to panel
Limb disorders RPL11 Ellen McDonagh Added gene to panel
Limb disorders RAD51C Ellen McDonagh Added gene to panel
Limb disorders PALB2 Ellen McDonagh Added gene to panel
Limb disorders GATA1 Ellen McDonagh Added gene to panel
Limb disorders FANCM Ellen McDonagh Added gene to panel
Limb disorders FANCL Ellen McDonagh Added gene to panel
Limb disorders FANCI Ellen McDonagh Added gene to panel
Limb disorders FANCG Ellen McDonagh Added gene to panel
Limb disorders FANCF Ellen McDonagh Added gene to panel
Limb disorders FANCE Ellen McDonagh Added gene to panel
Limb disorders FANCD2 Ellen McDonagh Added gene to panel
Limb disorders FANCC Ellen McDonagh Added gene to panel
Limb disorders FANCB Ellen McDonagh Added gene to panel
Limb disorders FANCA Ellen McDonagh Added gene to panel
Limb disorders ERCC4 Ellen McDonagh Added gene to panel
Limb disorders BRIP1 Ellen McDonagh Added gene to panel
Limb disorders BRCA2 Ellen McDonagh Added gene to panel
Limb disorders ZSWIM6 Ellen McDonagh Added gene to panel
Limb disorders WDR35 Ellen McDonagh Added gene to panel
Limb disorders WDR34 Ellen McDonagh Added gene to panel
Limb disorders WDR19 Ellen McDonagh Added gene to panel
Limb disorders WDPCP Ellen McDonagh Added gene to panel
Limb disorders USP9X Ellen McDonagh Added gene to panel
Limb disorders UBE3B Ellen McDonagh Added gene to panel
Limb disorders TWIST1 Ellen McDonagh Added gene to panel
Limb disorders TTC8 Ellen McDonagh Added gene to panel
Limb disorders TTC21B Ellen McDonagh Added gene to panel
Limb disorders TRIM32 Ellen McDonagh Added gene to panel
Limb disorders TRAF3IP1 Ellen McDonagh Added gene to panel
Limb disorders TMEM237 Ellen McDonagh Added gene to panel
Limb disorders TMEM231 Ellen McDonagh Added gene to panel
Limb disorders TMEM216 Ellen McDonagh Added gene to panel
Limb disorders TMEM138 Ellen McDonagh Added gene to panel
Limb disorders TFAP2B Ellen McDonagh Added gene to panel
Limb disorders TFAP2A Ellen McDonagh Added gene to panel
Limb disorders TCTN3 Ellen McDonagh Added gene to panel
Limb disorders TCTN2 Ellen McDonagh Added gene to panel
Limb disorders TCTEX1D2 Ellen McDonagh Added gene to panel
Limb disorders TBX22 Ellen McDonagh Added gene to panel
Limb disorders SPINT2 Ellen McDonagh Added gene to panel
Limb disorders SMO Ellen McDonagh Added gene to panel
Limb disorders SDCCAG8 Ellen McDonagh Added gene to panel
Limb disorders SC5D Ellen McDonagh Added gene to panel
Limb disorders RBM10 Ellen McDonagh Added gene to panel
Limb disorders PROM1 Ellen McDonagh Added gene to panel
Limb disorders PNPLA6 Ellen McDonagh Added gene to panel
Limb disorders PIK3R2 Ellen McDonagh Added gene to panel
Limb disorders PIK3CA Ellen McDonagh Added gene to panel
Limb disorders PDE6D Ellen McDonagh Added gene to panel
Limb disorders NPHP3 Ellen McDonagh Added gene to panel
Limb disorders MKKS Ellen McDonagh Added gene to panel
Limb disorders MEGF8 Ellen McDonagh Added gene to panel
Limb disorders MBTPS2 Ellen McDonagh Added gene to panel
Limb disorders LZTFL1 Ellen McDonagh Added gene to panel
Limb disorders LBR Ellen McDonagh Added gene to panel
Limb disorders INPP5E Ellen McDonagh Added gene to panel
Limb disorders IFT80 Ellen McDonagh Added gene to panel
Limb disorders IFT52 Ellen McDonagh Added gene to panel
Limb disorders IFT27 Ellen McDonagh Added gene to panel
Limb disorders IFT172 Ellen McDonagh Added gene to panel
Limb disorders IFT140 Ellen McDonagh Added gene to panel
Limb disorders ICK Ellen McDonagh Added gene to panel
Limb disorders HYLS1 Ellen McDonagh Added gene to panel
Limb disorders HNRNPK Ellen McDonagh Added gene to panel
Limb disorders GRIP1 Ellen McDonagh Added gene to panel
Limb disorders GPC3 Ellen McDonagh Added gene to panel
Limb disorders GLI2 Ellen McDonagh Added gene to panel
Limb disorders FREM2 Ellen McDonagh Added gene to panel
Limb disorders FRAS1 Ellen McDonagh Added gene to panel
Limb disorders EVC2 Ellen McDonagh Added gene to panel
Limb disorders EVC Ellen McDonagh Added gene to panel
Limb disorders EBP Ellen McDonagh Added gene to panel
Limb disorders DYNC2LI1 Ellen McDonagh Added gene to panel
Limb disorders DDX59 Ellen McDonagh Added gene to panel
Limb disorders CSPP1 Ellen McDonagh Added gene to panel
Limb disorders CKAP2L Ellen McDonagh Added gene to panel
Limb disorders CEP41 Ellen McDonagh Added gene to panel
Limb disorders CEP164 Ellen McDonagh Added gene to panel
Limb disorders CEP120 Ellen McDonagh Added gene to panel
Limb disorders CENPF Ellen McDonagh Added gene to panel
Limb disorders CD96 Ellen McDonagh Added gene to panel
Limb disorders CCND2 Ellen McDonagh Added gene to panel
Limb disorders C5orf42 Ellen McDonagh Added gene to panel
Limb disorders C2CD3 Ellen McDonagh Added gene to panel
Limb disorders BMP4 Ellen McDonagh Added gene to panel
Limb disorders BBS9 Ellen McDonagh Added gene to panel
Limb disorders BBS7 Ellen McDonagh Added gene to panel
Limb disorders BBS5 Ellen McDonagh Added gene to panel
Limb disorders BBS4 Ellen McDonagh Added gene to panel
Limb disorders BBS2 Ellen McDonagh Added gene to panel
Limb disorders BBS12 Ellen McDonagh Added gene to panel
Limb disorders BBS10 Ellen McDonagh Added gene to panel
Limb disorders BBS1 Ellen McDonagh Added gene to panel
Limb disorders B9D2 Ellen McDonagh Added gene to panel
Limb disorders B9D1 Ellen McDonagh Added gene to panel
Limb disorders ARMC8 Ellen McDonagh Added gene to panel
Limb disorders ARL6 Ellen McDonagh Added gene to panel
Limb disorders ALX3 Ellen McDonagh Added gene to panel
Limb disorders ALMS1 Ellen McDonagh Added gene to panel
Limb disorders AKT3 Ellen McDonagh Added gene to panel
Limb disorders AHI1 Ellen McDonagh Added gene to panel
Clefting TSR2 Ellen McDonagh Added gene to panel
Clefting TFAP2B Ellen McDonagh Added gene to panel
Clefting SELENOI Ellen McDonagh Added gene to panel
Clefting RSPO2 Ellen McDonagh Added gene to panel
Clefting RPL11 Ellen McDonagh Added gene to panel
Clefting PLCB4 Ellen McDonagh Added gene to panel
Clefting PGM1 Ellen McDonagh Added gene to panel
Clefting INTS1 Ellen McDonagh Added gene to panel
Clefting GNAI3 Ellen McDonagh Added gene to panel
Clefting FOXE1 Ellen McDonagh Added gene to panel
Clefting EIF4A3 Ellen McDonagh Added gene to panel
Clefting EDN1 Ellen McDonagh Added gene to panel
Clefting COL9A3 Ellen McDonagh Added gene to panel
Clefting CHD1 Ellen McDonagh Added gene to panel
Clefting BMP2 Ellen McDonagh Added gene to panel
Clefting ACBD5 Ellen McDonagh Added gene to panel
Cytopenias and congenital anaemias ADA2 Louise Daugherty edited their review of gene: ADA2
Intellectual disability GABBR2 Konstantinos Varvagiannis reviewed gene: GABBR2
Intellectual disability HERC2 Konstantinos Varvagiannis reviewed gene: HERC2
Intellectual disability ASNS Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1
Early onset or syndromic epilepsy DPM2 Zornitza Stark reviewed gene: DPM2
Early onset or syndromic epilepsy DPM1 Zornitza Stark reviewed gene: DPM1
Early onset or syndromic epilepsy DPAGT1 Zornitza Stark reviewed gene: DPAGT1
Early onset or syndromic epilepsy DOLK Zornitza Stark reviewed gene: DOLK
Early onset or syndromic epilepsy DNM1L Zornitza Stark reviewed gene: DNM1L
Early onset or syndromic epilepsy DNAJC6 Zornitza Stark reviewed gene: DNAJC6
Early onset or syndromic epilepsy DHCR24 Zornitza Stark reviewed gene: DHCR24
Early onset or syndromic epilepsy DENND5A Zornitza Stark reviewed gene: DENND5A
Early onset or syndromic epilepsy ADPRHL2 Zornitza Stark Added gene to panel
Early onset or syndromic epilepsy DDX3X Zornitza Stark reviewed gene: DDX3X
Early onset or syndromic epilepsy DCX Zornitza Stark reviewed gene: DCX
Early onset or syndromic epilepsy DBT Zornitza Stark reviewed gene: DBT
Early onset or syndromic epilepsy D2HGDH Zornitza Stark reviewed gene: D2HGDH
Early onset or syndromic epilepsy CTSD Zornitza Stark reviewed gene: CTSD
Early onset or syndromic epilepsy CSTB Zornitza Stark reviewed gene: CSTB
Early onset or syndromic epilepsy CSNK2B Zornitza Stark reviewed gene: CSNK2B
Early onset or syndromic epilepsy COX15 Zornitza Stark reviewed gene: COX15
Early onset or syndromic epilepsy COX10 Zornitza Stark reviewed gene: COX10
Intellectual disability TBC1D7 Konstantinos Varvagiannis Added gene to panel
Early onset or syndromic epilepsy COQ9 Zornitza Stark reviewed gene: COQ9
Early onset or syndromic epilepsy COQ6 Zornitza Stark reviewed gene: COQ6
Early onset or syndromic epilepsy COQ4 Zornitza Stark reviewed gene: COQ4
Early onset or syndromic epilepsy COQ2 Zornitza Stark reviewed gene: COQ2
Intellectual disability GPT2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability GABRB2 Konstantinos Varvagiannis Added gene to panel
Intellectual disability CNOT3 Louise Daugherty classified CNOT3 as Green List (high evidence)
Hereditary spastic paraplegia ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Red List (low evidence)
Undiagnosed metabolic disorders ATP7A Ellen McDonagh commented on gene: ATP7A
Intellectual disability COQ5 Louise Daugherty classified COQ5 as Amber List (moderate evidence)
Intellectual disability ERLIN2 Louise Daugherty classified ERLIN2 as Green List (high evidence)
Intellectual disability ERLIN2 Louise Daugherty reviewed gene: ERLIN2
Intellectual disability COQ5 Louise Daugherty edited their review of gene: COQ5
Early onset or syndromic epilepsy COL4A2 Zornitza Stark reviewed gene: COL4A2
Early onset or syndromic epilepsy COL4A1 Zornitza Stark reviewed gene: COL4A1
Early onset or syndromic epilepsy COL18A1 Zornitza Stark reviewed gene: COL18A1
Early onset or syndromic epilepsy COG8 Zornitza Stark reviewed gene: COG8
Early onset or syndromic epilepsy COG7 Zornitza Stark reviewed gene: COG7
Early onset or syndromic epilepsy COG6 Zornitza Stark reviewed gene: COG6
Early onset or syndromic epilepsy COG4 Zornitza Stark reviewed gene: COG4
Early onset or syndromic epilepsy CNPY3 Zornitza Stark reviewed gene: CNPY3
Early onset or syndromic epilepsy CLN3 Zornitza Stark reviewed gene: CLN3
Early onset or syndromic epilepsy CLCN4 Zornitza Stark reviewed gene: CLCN4
Early onset or syndromic epilepsy CCND2 Zornitza Stark reviewed gene: CCND2
Early onset or syndromic epilepsy CCDC88A Zornitza Stark reviewed gene: CCDC88A
Early onset or syndromic epilepsy CC2D2A Zornitza Stark reviewed gene: CC2D2A
Intellectual disability EDNRB Louise Daugherty commented on gene: EDNRB
Intellectual disability EIF4A3 Louise Daugherty classified EIF4A3 as Green List (high evidence)
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability EIF4A3 Louise Daugherty commented on gene: EIF4A3
Intellectual disability GBA Louise Daugherty edited their review of gene: GBA
Intellectual disability GSPT2 Louise Daugherty edited their review of gene: GSPT2
Intellectual disability HNRNPU Louise Daugherty commented on gene: HNRNPU
Intellectual disability HNRNPK Louise Daugherty classified HNRNPK as Green List (high evidence)
Intellectual disability HNRNPK Louise Daugherty edited their review of gene: HNRNPK
Intellectual disability DPF2 Louise Daugherty classified DPF2 as Green List (high evidence)
Intellectual disability DPF2 Louise Daugherty commented on gene: DPF2
Intellectual disability DPF2 Louise Daugherty reviewed gene: DPF2
Neonatal cholestasis PEX13 Ellen McDonagh classified PEX13 as Green List (high evidence)
Neonatal cholestasis PEX10 Ellen McDonagh classified PEX10 as Green List (high evidence)
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty edited their review of gene: IGF1R
Intellectual disability IGF1R Louise Daugherty commented on gene: IGF1R
Intellectual disability DPF2 Rachel Jones reviewed gene: DPF2
Intellectual disability NRXN2 Louise Daugherty edited their review of gene: NRXN2
Intellectual disability NRXN1 Louise Daugherty reviewed gene: NRXN1
Intellectual disability ATP1A3 Louise Daugherty classified ATP1A3 as Amber List (moderate evidence)
Intellectual disability APTX Louise Daugherty classified APTX as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Intellectual disability ALS2 Louise Daugherty classified ALS2 as Red List (low evidence)
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty classified SMAD2 as Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty edited their review of gene: SMAD2
Ehlers Danlos syndrome with a likely monogenic cause SMAD2 Louise Daugherty commented on gene: SMAD2