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Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, MIM# 130000
Bleeding and Platelet Disorders v0.55 COL5A1 Zornitza Stark Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.54 COL5A1 Zornitza Stark Classified gene: COL5A1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.54 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.53 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, MIM# 130000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark edited their review of gene: COL3A1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.53 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Bleeding and Platelet Disorders v0.52 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.51 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Classified gene: CHST14 as Green List (high evidence)
Bleeding and Platelet Disorders v0.51 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.50 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Review for gene: CHST14 was set to GREEN
Added comment: Large haematomas are a feature.
Sources: Expert list
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Marked gene: CDC42 as ready
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Classified gene: CDC42 as Green List (high evidence)
Bleeding and Platelet Disorders v0.49 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.48 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 29394990
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737
Review for gene: CDC42 was set to GREEN
Added comment: Well established gene-disease association. Macrothrombocytopaenia is a feature.
Sources: Expert list
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Marked gene: CBS as ready
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.47 CBS Zornitza Stark Phenotypes for gene: CBS were changed from to Thrombosis, hyperhomocysteinemic, MIM# 236200; Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200
Bleeding and Platelet Disorders v0.46 CBS Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.45 CBS Zornitza Stark Classified gene: CBS as Red List (low evidence)
Bleeding and Platelet Disorders v0.45 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.44 CBS Zornitza Stark reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombosis, hyperhomocysteinemic, MIM# 236200, Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Green List (high evidence)
Bleeding and Platelet Disorders v0.44 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.43 BLOC1S6 Zornitza Stark gene: BLOC1S6 was added
gene: BLOC1S6 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S6 were set to 32245340; 22461475
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171
Review for gene: BLOC1S6 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Bleeding and Platelet Disorders v0.42 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.41 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 28368018; 27965109; 29127144; 30254128
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718
Review for gene: ARPC1B was set to GREEN
Added comment: At least 9 unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Classified gene: ANKRD26 as Green List (high evidence)
Bleeding and Platelet Disorders v0.39 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.38 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD26 were set to 21211618
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2, MIM# 188000
Review for gene: ANKRD26 was set to GREEN
Added comment: Note promoter variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Classified gene: ADAMTS13 as Green List (high evidence)
Bleeding and Platelet Disorders v0.37 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.36 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ADAMTS13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADAMTS13 were set to 11586351
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Review for gene: ADAMTS13 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.35 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.34 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.3748 ACTN1 Zornitza Stark Marked gene: ACTN1 as ready
Mendeliome v0.3748 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Mendeliome v0.3748 ACTN1 Zornitza Stark Phenotypes for gene: ACTN1 were changed from to Bleeding disorder, platelet-type, 15, MIM# 615193
Mendeliome v0.3747 ACTN1 Zornitza Stark Publications for gene: ACTN1 were set to
Mendeliome v0.3746 ACTN1 Zornitza Stark Mode of inheritance for gene: ACTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3745 ACTN1 Zornitza Stark reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434115; Phenotypes: Bleeding disorder, platelet-type, 15, MIM# 615193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Marked gene: ACTN1 as ready
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Classified gene: ACTN1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.33 ACTN1 Zornitza Stark Gene: actn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.32 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN1 were set to 23434115
Phenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193
Review for gene: ACTN1 was set to GREEN
Added comment: At least 6 unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark changed review comment from: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list; to: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Marked gene: ACTB as ready
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Classified gene: ACTB as Green List (high evidence)
Bleeding and Platelet Disorders v0.31 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.30 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 30315159
Phenotypes for gene: ACTB were set to Syndromic thrombocytopaenia
Review for gene: ACTB was set to GREEN
Added comment: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.29 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788
Bleeding and Platelet Disorders v0.28 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.27 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Classified gene: ABCG8 as Green List (high evidence)
Bleeding and Platelet Disorders v0.27 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.26 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG8 were set to 32546081; 23556150
Phenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250
Review for gene: ABCG8 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this metabolic disorder.
Sources: Expert list
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Classified gene: ABCG5 as Green List (high evidence)
Bleeding and Platelet Disorders v0.25 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.24 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG5 were set to 32546081; 23556150
Phenotypes for gene: ABCG5 were set to Sitosterolemia 2, MIM# 618666
Review for gene: ABCG5 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this metabolic disorder.
Sources: Expert list
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.44 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional, localisata variant, MIM# 226650; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epithelial recurrent erosion dystrophy, MIM# 122400
Epidermolysis bullosa v0.43 COL17A1 Zornitza Stark Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.42 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, localisata variant, MIM# 226650, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epithelial recurrent erosion dystrophy, MIM# 122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Marked gene: SERPINB8 as ready
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Classified gene: SERPINB8 as Amber List (moderate evidence)
Epidermolysis bullosa v0.42 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.41 SERPINB8 Zornitza Stark gene: SERPINB8 was added
gene: SERPINB8 was added to Epidermolysis bullosa. Sources: Expert list
Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB8 were set to 27476651
Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 (MIM#617115)
Review for gene: SERPINB8 was set to AMBER
Added comment: PMID:27476651 describes 3 families with what they refer to as exfoliative ichthyosis. Histological analysis of a skin biopsy showed disadhesion of keratinocytes in the lower epidermal layers. In vitro studies showed that in the absence of the protein, there is a cell-cell adhesion defect, supportive of this being a skin fragility disorder. Phenotype sits between ichthyosis and skin fragility, hence rated Amber on this panel.
Sources: Expert list
Mendeliome v0.3745 DSG3 Zornitza Stark Marked gene: DSG3 as ready
Mendeliome v0.3745 DSG3 Zornitza Stark Gene: dsg3 has been classified as Red List (Low Evidence).
Mendeliome v0.3745 DSG3 Zornitza Stark gene: DSG3 was added
gene: DSG3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG3 were set to 30528827
Phenotypes for gene: DSG3 were set to Mucosal blistering
Review for gene: DSG3 was set to RED
Added comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*).
Sources: Expert list
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark Marked gene: DSG3 as ready
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark Gene: dsg3 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.40 DSG3 Zornitza Stark gene: DSG3 was added
gene: DSG3 was added to Epidermolysis bullosa. Sources: Expert list
Mode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG3 were set to 30528827
Phenotypes for gene: DSG3 were set to Mucosal blistering
Review for gene: DSG3 was set to RED
Added comment: One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*).
Sources: Expert list
Mendeliome v0.3744 ITGA9 Zornitza Stark Marked gene: ITGA9 as ready
Mendeliome v0.3744 ITGA9 Zornitza Stark Gene: itga9 has been classified as Red List (Low Evidence).
Mendeliome v0.3744 ITGA9 Zornitza Stark Classified gene: ITGA9 as Red List (low evidence)
Mendeliome v0.3744 ITGA9 Zornitza Stark Gene: itga9 has been classified as Red List (Low Evidence).
Mendeliome v0.3743 ITGA9 Zornitza Stark reviewed gene: ITGA9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Melanoma v0.2 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital
Medulloblastoma v0.2 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology; Adult Genetics Unit, Royal Adelaide Hospital
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Marked gene: CSTB as ready
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Gene: cstb has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Classified gene: CSTB as Amber List (moderate evidence)
Epidermolysis bullosa v0.37 CSTB Zornitza Stark Gene: cstb has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.36 CSTB Zornitza Stark Tag SV/CNV tag was added to gene: CSTB.
Mendeliome v0.3743 CSTB Ain Roesley reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: 28457472; Phenotypes: Keratolytic winter erythema (MIM#148370); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa v0.36 CSTB Ain Roesley gene: CSTB was added
gene: CSTB was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CSTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSTB were set to 28457472
Phenotypes for gene: CSTB were set to Keratolytic winter erythema (MIM#148370)
Penetrance for gene: CSTB were set to unknown
Review for gene: CSTB was set to AMBER
Added comment: PMID: 28457472; CNV
- 7 South African families with keratolytic winter erythema. Identified a noncoding 7.67-kb tandem duplication on chromosome 8 that segregated with disease and was not found in 127 controls.
- This region overlaps with an enhancer element which correlated with CTSB expression
- qPCR analysis and immunohistochemistry of the palmar epidermis demonstrated significantly increased expression of CTSB, as well as stronger staining of cathepsin B in the stratum granulosum of affected individuals than in that of control
Sources: Literature
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Epidermolysis bullosa v0.36 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.35 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Marked gene: DSG1 as ready
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Classified gene: DSG1 as Amber List (moderate evidence)
Epidermolysis bullosa v0.35 DSG1 Zornitza Stark Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Classified gene: KRT1 as Green List (high evidence)
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Marked gene: DSC3 as ready
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Classified gene: DSC3 as Amber List (moderate evidence)
Epidermolysis bullosa v0.33 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Marked gene: CSTA as ready
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Epidermolysis bullosa v0.32 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Marked gene: CDSN as ready
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Epidermolysis bullosa v0.31 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Paul De Fazio changed review comment from: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
Sources: Literature; to: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.

EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: Literature
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.29 CAST Zornitza Stark Marked gene: CAST as ready
Epidermolysis bullosa v0.29 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.29 CAST Zornitza Stark Classified gene: CAST as Green List (high evidence)
Epidermolysis bullosa v0.29 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Marked gene: ATP2A2 as ready
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Classified gene: ATP2A2 as Green List (high evidence)
Epidermolysis bullosa v0.28 ATP2A2 Zornitza Stark Gene: atp2a2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Mendeliome v0.3743 ATP2C1 Ain Roesley reviewed gene: ATP2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28551824; Phenotypes: Hailey-Hailey disease (MIM# 169600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Classified gene: SLC39A4 as Green List (high evidence)
Epidermolysis bullosa v0.27 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Marked gene: ATP2C1 as ready
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Classified gene: ATP2C1 as Green List (high evidence)
Epidermolysis bullosa v0.26 ATP2C1 Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Marked gene: SLC39A7 as ready
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Red List (low evidence)
Epidermolysis bullosa v0.25 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Red List (Low Evidence).
Epidermolysis bullosa v0.24 IKBKG Paul De Fazio gene: IKBKG was added
gene: IKBKG was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: IKBKG was set to Other
Publications for gene: IKBKG were set to 12588226; 30151858; 10839543; 11673821
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti (MIM#308300)
Review for gene: IKBKG was set to GREEN
gene: IKBKG was marked as current diagnostic
Added comment: Well-established association with Incontinentia pigmenti, which is a multi-stage disease, stage 1 of which has blister-like bullous eruptions that are linear on the extremities and/or circumferential on the trunk, which usually disappear by 18 months (GeneReviews - https://www.ncbi.nlm.nih.gov/books/NBK1472/). Most pathogenic variants are gene rearrangements or multi-exon deletions.

X-linked dominant, with presumed male lethality (although there are reports of mosaic and XXY affected males).

This gene is also associated with Ectodermal dysplasia and immunodeficiency but these associations do not fit this panel.
Sources: Literature
Epidermolysis bullosa v0.24 DSG1 Ain Roesley gene: DSG1 was added
gene: DSG1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 19558595; 23974871
Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Penetrance for gene: DSG1 were set to unknown
Review for gene: DSG1 was set to AMBER
Added comment: skin blistering and/or fragility reported in 2 probands

PMID: 19558595;
- 40-yr old man presented with painful thickening of the skin on his palms and soles, hyperhidrosis and intermittent associated blistering, since childhood
- heterozygous p.(Arg144*)

PMID: 23974871;
(authors are calling it SAM syndrome)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A
Sources: Literature
Epidermolysis bullosa v0.24 KRT1 Paul De Fazio gene: KRT1 was added
gene: KRT1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT1 were set to 7511022; 21271994
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis (MIM#113800; Epidermolytic ichthyosis
Review for gene: KRT1 was set to GREEN
gene: KRT1 was marked as current diagnostic
Added comment: Well-established gene-disease association. Associated with Epidermolytic hyperkeratosis, Ichthyosis, and Palmoplantar keratoderma. OMIM says AD and AR associations for EHK but this seems to apply to KRT10, not KRT1. Multiple families reported mostly with EHK (also referred to as epidermolytic ichthyosis in the literature? I'm unsure about the phenotype distinctions).

EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: Literature
Epidermolysis bullosa v0.24 DSC3 Ain Roesley gene: DSC3 was added
gene: DSC3 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC3 were set to 19765682; 20159115; 24690439; 31790667
Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles (MIM# 613102)
Penetrance for gene: DSC3 were set to unknown
Review for gene: DSC3 was set to AMBER
Added comment: PMID: 19765682;
- large family from Afghanistan with 4x affecteds with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation
- homozygous for p.(Leu710*)

However, Payne 2010 (PMID: 20159115) and Fine 2014 (PMID: 24690439) argued that no definitive clinical or histopathologic evidence of blistering was presented. This family's phenotype is more consistent with a different skin disorder known as keratosis pilaris, which is associated with follicular plugging on histology.

PMID: 31790667;
- 1x proband born to consanguineous Egyptian parents with unequivocal skin blistering and hypotrichosis. From 4 years of age, he started to develop blisters on his hands, feet, and knees, as well as at sites of trauma
- homozygous for p.(Leu727*)
- Immunofluorescence microscopy in patient’s skin revealed a complete absence of DSC3 labeling, consistent with nonsense-mediated RNA decay
Sources: Literature
Epidermolysis bullosa v0.24 CSTA Ain Roesley gene: CSTA was added
gene: CSTA was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 25400170; 21944047
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 (MIM#607936)
Penetrance for gene: CSTA were set to unknown
Review for gene: CSTA was set to GREEN
Added comment: PMID: 23534700;
- large consanguineous Jordanian American pedigree with acral peeling skin syndrome (APSS) that affected 10 individuals over four generations.
- homozygous for p(.Lys22*)

PMID: 25400170;
- 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmo plantar peeling of the skin
- homozygous for p.(Arg58T*)

PMID: 21944047;
- 1x consanguineous family of Bedouin origin homoyzgous for c.67-2A>T
-> minigene assays demonstrated skipping of the first 12 base pairs of exon 2 of CSTA
- 1x consanguineous family Turkish origin homozygous for p.(Gln86*)
Sources: Literature
Epidermolysis bullosa v0.24 CDSN Ain Roesley gene: CDSN was added
gene: CDSN was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 23957618; 20691404; 21191406; 25473393
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 (MIM#270300)
Penetrance for gene: CDSN were set to unknown
Review for gene: CDSN was set to GREEN
Added comment: Also known as TypeB

PMID: 23957618;
1x Caucasian female with homozygous p.(Gly142*)

PMID: 20691404;
4x in a large consanguineous Roma family from Germany with homozygous p.(Lys59*)

PMID: 21191406;
1x Jewish male from a consanguineous family with homozygous p.(Gly249Valfs40)

PMID: 25473393;
1x japanese female from consanguineous family with homozygous p.(Ser453Asn)
Sources: Literature
Epidermolysis bullosa v0.24 KRT10 Paul De Fazio gene: KRT10 was added
gene: KRT10 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT10 were set to 1380725; 1381287; 7508181; 20798280; 16505000; 18219278; 19474805
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)
Review for gene: KRT10 was set to GREEN
gene: KRT10 was marked as current diagnostic
Added comment: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
Sources: Literature
Epidermolysis bullosa v0.24 CAST Ain Roesley gene: CAST was added
gene: CAST was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAST were set to 25683118
Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)
Penetrance for gene: CAST were set to unknown
Review for gene: CAST was set to GREEN
Added comment: PMID: 25683118;

1x Chinese proband from a consanguineous family. She presented with trauma-induced recurrent blistering prominently on the extremities since infancy, which was worse in summer. In winter, asymptomatic skin peeling was more prominent . Homozygous for c.607dup; p.(Ile203Asnfs*8)
-> RT-PCR of mRNA from this patient's skin demonstrated NMD
- 1x Nepalese proband from non-consanguineous parents with history of painful lesions on the palms and soles. Homozygous for c.424A>T ; p.(Lys142*)
- 1x European sibling pair with history of blistering and peeling of skin. Homozygous for c.1750delG p.(*Val584Trpfs*37)
Sources: Literature
Epidermolysis bullosa v0.24 ATP2A2 Ain Roesley gene: ATP2A2 was added
gene: ATP2A2 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2A2 were set to 10441324; 17635506
Phenotypes for gene: ATP2A2 were set to Darier disease (MIM#124200)
Penetrance for gene: ATP2A2 were set to unknown
Review for gene: ATP2A2 was set to GREEN
Added comment: Characteristic lesions in DD are hyperkeratotic, erythematous, pruritic plaques that may ulcerate, scale and turn gray, getcrusted, or coalesce into larger lesions.
Acral haemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities.


Haemorrhagic DD described in
PMID: 10441324;
2 unrelated Italian families + 1 scottish family with p.(Asn767Ser)
1 Swedish family with p.(Cys268Phe)

PMID: 17635506;
1 Japanese family with 9 affecteds harbouring p.(Asn767Ser)
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A4 Paul De Fazio gene: SLC39A4 was added
gene: SLC39A4 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 19370757
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (MIM#201100)
Review for gene: SLC39A4 was set to GREEN
gene: SLC39A4 was marked as current diagnostic
Added comment: Well-established gene-disease association. PMID:19370757 summarises 22 families with identified biallelic variants as of 2009 (although some families have only one or no variants identified).

Disease is characterised by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous.
Sources: Literature
Polymicrogyria and Schizencephaly v0.92 SCN3A Zornitza Stark Publications for gene: SCN3A were set to 30146301
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Deleted their comment
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark edited their review of gene: SCN3A: Added comment: Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017; Changed rating: GREEN; Changed publications: 32515017, 30146301; Changed phenotypes: Polymicrogyria, malformations of cortical development, epilepsy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Marked gene: SCN3A as ready
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Added comment: Comment when marking as ready: Six unrelated families reported, some multiplex.
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Classified gene: SCN3A as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.91 SCN3A Zornitza Stark Gene: scn3a has been classified as Green List (High Evidence).
Mendeliome v0.3743 MADD Zornitza Stark Marked gene: MADD as ready
Mendeliome v0.3743 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Mendeliome v0.3743 MADD Zornitza Stark Phenotypes for gene: MADD were changed from to Intellectual disability; seizures; autonomic dysfunction; endocrine dysfunction
Mendeliome v0.3742 MADD Zornitza Stark Publications for gene: MADD were set to
Mendeliome v0.3741 MADD Zornitza Stark Mode of inheritance for gene: MADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3740 MADD Zornitza Stark reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: Intellectual disability, seizures, autonomic dysfunction, endocrine dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v0.24 ATP2C1 Ain Roesley gene: ATP2C1 was added
gene: ATP2C1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2C1 were set to 28551824
Phenotypes for gene: ATP2C1 were set to Hailey-Hailey disease (MIM# 169600)
Penetrance for gene: ATP2C1 were set to unknown
Review for gene: ATP2C1 was set to GREEN
Added comment: Skin blistering is a feature of Hailey-Hailey disease.

PMID: 28551824;
At least 177 variants reported in this gene for Hailey-Hailey disease
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A7 Paul De Fazio changed review comment from: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature; to: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

Phenoypes are mostly immunological but the two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature
Epidermolysis bullosa v0.24 SLC39A7 Paul De Fazio gene: SLC39A7 was added
gene: SLC39A7 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Absent B cells; Agammaglobulinemia; Early onset infections
Review for gene: SLC39A7 was set to RED
gene: SLC39A7 was marked as current diagnostic
Added comment: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

The two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature
Genetic Epilepsy v0.775 MADD Zornitza Stark Marked gene: MADD as ready
Genetic Epilepsy v0.775 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.775 MADD Zornitza Stark Classified gene: MADD as Green List (high evidence)
Genetic Epilepsy v0.775 MADD Zornitza Stark Gene: madd has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.90 SCN3A Chloe Stutterd edited their review of gene: SCN3A: Changed publications: 30146301, 29740860
Polymicrogyria and Schizencephaly v0.90 SCN3A Chloe Stutterd gene: SCN3A was added
gene: SCN3A was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN3A were set to 30146301
Phenotypes for gene: SCN3A were set to Polymicrogyria; epileptic encephalopathy
Review for gene: SCN3A was set to GREEN
gene: SCN3A was marked as current diagnostic
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2835 MADD Konstantinos Varvagiannis reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: Global developmental delay / Intellectual disability / Seizures, Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.774 MADD Konstantinos Varvagiannis gene: MADD was added
gene: MADD was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MADD were set to 28940097; 29302074; 32761064
Phenotypes for gene: MADD were set to Global developmental delay / Intellectual disability / Seizures; Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system
Penetrance for gene: MADD were set to Complete
Review for gene: MADD was set to GREEN
Added comment: There are 3 reports on the phenotype of individuals with biallelic pathogenic MADD variants. Clinical presentation appears to be relevant for inclusion of this gene in both ID and epilepsy panels. A recent study provides extensive clinical details and suggests that the phenotype may range from DD/ID to a severe pleiotropic disorder characterized by severe DD (and ID), sensory and autonomic dysfunction, exocrine and endocrine insufficiency and haematological anomalies). Seizures have been reported in several individuals with either presentation.
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Anazi et al (2017 - PMID: 28940097) identified MADD as a potential ID gene. The authors described a girl with profound DD and seizures among other features. The child, deceased at the age of 14m, was born to consanguineous Saoudi parents and was found to harbour a homozygous missense SNV [NM_003682.3:c.2930T>G:p.(Val977Gly)]. Through GeneMatcher, the authors identified a further 6 y.o. girl, compound heterozygous for a missense and a stopgain variant [NM_003682.3:c.593G>A:p.(Arg198His) and c.979C>T:p.(Arg327*)]. The child had normal development and milestones until the age of 15m, when she demonstrated delay in speech, social interactions, poor eye contact and was later diagnosed with ASD.
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Hu et al (2019 - PMID: 29302074) provided details on a 22- and 30- y.o. female born to (reportedly) unrelated parents. Formal evaluation (WAIS-IV) suggested ID in the mild to moderate range(IQs of 50 and 60 respectively). Both were homozygous for an indel [NM_003682:c.3559del / p.(Met1187*)].
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Schneeberger et al (2020 - PMID: 32761064) report on 23 affected subjects.

The authors categorized the phenotypes in 2 groups. 9 individuals belonging to group 1 presented with hypotonia, DD (9/9) with speech impaiment, ID (5/5) and seizures (6/9). 14 patients, belonging to group 2 had DD (9/9 - severe), ID (3/3), seizures (9/14), endo- and exocrine dysfunction, impairment of sensory and autonomic nervous system, haematological anomalies. The course was fatal in some cases, within the later group. Some facial features appeared to be more frequent (e.g. full cheeks, small mouth, tented upper lip - small palpebral fissures in some, etc). Genital anomalies were also common in males from both groups.

All were found to harbor biallelic MADD variants (21 different - missense and pLoF SNVs as well as an intragenic deletion). Variants in all cases affected all 7 isoforms. Data did not allow genotype-phenotype correlations e.g. individuals with missense and a pLoF variant (in trans) were identified within either group.

Studies using patient-derived fibroblasts supported the role of the variants, e.g. lower mRNA levels for those where NMD would apply, deficiency or drastic reduction of the protein upon immunobloting (also the case for missense variants) and mRNA analyses demonstrating aberrant transcripts for 2 relevant variants.

MADD encodes the MAPK-activating protein containing a death domain implicated among others in neurotransmission (Rab3 GEF and effector playing a role in formation/trafficking of synaptic vessicles), cell survival (pro-apoptotic effects/protection against apoptosis upon TNF-a treatment), etc. The gene has relevant expression pattern in fetal and adult brain (discussed by Hu et al).

Studies in patient fibroblasts provide evidence of reduced activation of MAP kinases ERK1/2 upon treatment with TNF-a, activation of the intrinsic (TNF-a-dependent-) apoptosis. MADD deficiency was shown to result to decreased EGF endocytosis (likely mediated by Rab3).

Mouse model further supports the role of MADD (summary by MGI: "Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction.").

You may consider inclusion in other gene panels e.g. for hematologic (low Hb and thrombocytopenia in several) or GI (e.g diarrhea) disorders.
Sources: Literature
Mendeliome v0.3740 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Mendeliome v0.3740 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Mendeliome v0.3740 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Mendeliome v0.3739 UNC45A Zornitza Stark Publications for gene: UNC45A were set to
Mendeliome v0.3738 UNC45A Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3737 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Congenital Diarrhoea v0.6 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Congenital Diarrhoea v0.5 UNC45A Zornitza Stark Publications for gene: UNC45A were set to
Congenital Diarrhoea v0.4 UNC45A Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.3 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.176 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Cholestasis v0.176 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Cholestasis v0.176 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Cholestasis v0.175 UNC45A Zornitza Stark Publications for gene: UNC45A were set to
Cholestasis v0.174 UNC45A Zornitza Stark Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.173 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.173 TRMU Zornitza Stark Marked gene: TRMU as ready
Cholestasis v0.173 TRMU Zornitza Stark Gene: trmu has been classified as Amber List (Moderate Evidence).
Cholestasis v0.173 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
Cholestasis v0.172 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.171 TRMU Zornitza Stark Classified gene: TRMU as Amber List (moderate evidence)
Cholestasis v0.171 TRMU Zornitza Stark Gene: trmu has been classified as Amber List (Moderate Evidence).
Cholestasis v0.170 TRMU Zornitza Stark reviewed gene: TRMU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.170 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Cholestasis v0.170 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Cholestasis v0.170 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Meckel syndrome 2, MIM# 603194
Cholestasis v0.169 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.168 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Cholestasis v0.168 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Cholestasis v0.167 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.167 TFR2 Zornitza Stark Classified gene: TFR2 as Red List (low evidence)
Cholestasis v0.167 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Cholestasis v0.166 TFR2 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported but cirrhosis rather than cholestasis.
Cholestasis v0.166 TFR2 Zornitza Stark edited their review of gene: TFR2: Changed rating: RED
Cholestasis v0.166 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Cholestasis v0.166 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Red List (Low Evidence).
Cholestasis v0.166 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease
Cholestasis v0.165 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.164 SMPD1 Zornitza Stark Classified gene: SMPD1 as Red List (low evidence)
Cholestasis v0.164 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Red List (Low Evidence).
Cholestasis v0.163 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.163 SLC40A1 Zornitza Stark Marked gene: SLC40A1 as ready
Cholestasis v0.163 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Red List (Low Evidence).
Cholestasis v0.163 SLC40A1 Zornitza Stark Phenotypes for gene: SLC40A1 were changed from to Hemochromatosis, type 4, MIM# 606069
Cholestasis v0.162 SLC40A1 Zornitza Stark Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.161 SLC40A1 Zornitza Stark Classified gene: SLC40A1 as Red List (low evidence)
Cholestasis v0.161 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Red List (Low Evidence).
Cholestasis v0.160 SLC40A1 Zornitza Stark reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 4, MIM# 606069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.160 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Cholestasis v0.160 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Red List (Low Evidence).
Cholestasis v0.160 SLC30A10 Zornitza Stark Phenotypes for gene: SLC30A10 were changed from to Hypermanganesemia with dystonia 1, MIM# 613280
Cholestasis v0.159 SLC30A10 Zornitza Stark Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.158 SLC30A10 Zornitza Stark Classified gene: SLC30A10 as Red List (low evidence)
Cholestasis v0.158 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Red List (Low Evidence).
Cholestasis v0.157 SLC30A10 Zornitza Stark reviewed gene: SLC30A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermanganesemia with dystonia 1, MIM# 613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.157 POLG Zornitza Stark Marked gene: POLG as ready
Cholestasis v0.157 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Cholestasis v0.157 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700
Cholestasis v0.156 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.155 POLG Zornitza Stark Classified gene: POLG as Red List (low evidence)
Cholestasis v0.155 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Cholestasis v0.154 POLG Zornitza Stark reviewed gene: POLG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.154 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Cholestasis v0.154 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Cholestasis v0.154 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Cholestasis v0.153 PKHD1 Zornitza Stark Publications for gene: PKHD1 were set to
Cholestasis v0.152 PKHD1 Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.151 PKHD1 Zornitza Stark reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30366773, 25771912, 8616994; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.151 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Cholestasis v0.151 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Cholestasis v0.151 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
Cholestasis v0.150 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.150 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.149 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Cholestasis v0.149 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Cholestasis v0.148 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.148 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Cholestasis v0.148 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Cholestasis v0.148 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882
Cholestasis v0.147 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.146 PEX5 Zornitza Stark Classified gene: PEX5 as Red List (low evidence)
Cholestasis v0.146 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Cholestasis v0.145 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.145 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Cholestasis v0.145 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Cholestasis v0.145 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886
Cholestasis v0.144 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.143 PEX3 Zornitza Stark Classified gene: PEX3 as Red List (low evidence)
Cholestasis v0.143 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Cholestasis v0.142 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), MIM# 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.142 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Cholestasis v0.142 PEX19 Zornitza Stark Gene: pex19 has been classified as Red List (Low Evidence).
Cholestasis v0.142 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876
Cholestasis v0.141 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Cholestasis v0.140 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.139 PEX19 Zornitza Stark Classified gene: PEX19 as Red List (low evidence)
Cholestasis v0.139 PEX19 Zornitza Stark Gene: pex19 has been classified as Red List (Low Evidence).
Cholestasis v0.138 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: RED; Mode of pathogenicity: None; Publications: 20683989; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.138 PEX16 Zornitza Stark Classified gene: PEX16 as Red List (low evidence)
Cholestasis v0.138 PEX16 Zornitza Stark Gene: pex16 has been classified as Red List (Low Evidence).
Cholestasis v0.137 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Cholestasis v0.137 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Cholestasis v0.137 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Cholestasis v0.136 PEX16 Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.135 PEX16 Zornitza Stark reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.135 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Cholestasis v0.135 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.135 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887
Cholestasis v0.134 PEX14 Zornitza Stark Publications for gene: PEX14 were set to
Cholestasis v0.133 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.132 PEX14 Zornitza Stark Classified gene: PEX14 as Amber List (moderate evidence)
Cholestasis v0.132 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.131 PEX14 Zornitza Stark reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 21686775, 18285423; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.131 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Cholestasis v0.131 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Cholestasis v0.131 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883
Cholestasis v0.130 PEX13 Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.129 PEX13 Zornitza Stark Classified gene: PEX13 as Red List (low evidence)
Cholestasis v0.129 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Cholestasis v0.128 PEX13 Zornitza Stark reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.128 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Cholestasis v0.128 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Cholestasis v0.128 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B, MIM# 614920
Cholestasis v0.127 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.126 PEX11B Zornitza Stark Classified gene: PEX11B as Red List (low evidence)
Cholestasis v0.126 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Cholestasis v0.125 PEX11B Zornitza Stark reviewed gene: PEX11B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 14B, MIM# 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Melanoma v0.1 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology
Medulloblastoma v0.1 Zornitza Stark Panel types changed to Cancer Germline; SA Pathology
Medulloblastoma v0.0 PHOX2B Zornitza Stark gene: PHOX2B was added
gene: PHOX2B was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 ALK Zornitza Stark gene: ALK was added
gene: ALK was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Medulloblastoma v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Melanoma v0.0 CDKN2A Zornitza Stark gene: CDKN2A was added
gene: CDKN2A was added to Melanoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Melanoma v0.0 CDK4 Zornitza Stark gene: CDK4 was added
gene: CDK4 was added to Melanoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDK4 were set to Melanoma, cutaneous malignant, MIM#609408
Melanoma v0.0 BAP1 Zornitza Stark gene: BAP1 was added
gene: BAP1 was added to Melanoma. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Tumour predisposition syndrome, MIM#614327
Medulloblastoma v0.0 Zornitza Stark Added panel Medulloblastoma
Melanoma v0.0 Zornitza Stark Added panel Melanoma
Intellectual disability syndromic and non-syndromic v0.2835 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Regression v0.130 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Regression v0.129 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Developmental delay, epilepsy, neurodegeneration, Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Genetic Epilepsy v0.774 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Mendeliome v0.3737 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Mendeliome v0.3736 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Developmental delay, epilepsy, neurodegeneration, Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Polydactyly v0.170 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707 to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800; Curry-Jones syndrome, somatic mosaic 601707
Polydactyly v0.169 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800, Curry-Jones syndrome, somatic mosaic 601707
Microcephaly v0.148 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800
Mendeliome v0.3736 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis; Curry-Jones syndrome, somatic mosaic 601707 to Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800; Curry-Jones syndrome, somatic mosaic 601707
Mendeliome v0.3735 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome, MIM# 241800, Curry-Jones syndrome, somatic mosaic 601707
Hirschsprung disease v0.4 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800
Hirschsprung disease v0.3 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800
Craniosynostosis v0.135 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Congenital Heart Defect v0.56 SMO Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800
Congenital Heart Defect v0.55 SMO Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800
Cholestasis v0.125 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Cholestasis v0.125 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Cholestasis v0.125 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870
Cholestasis v0.124 PEX10 Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.123 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
Cholestasis v0.123 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Cholestasis v0.122 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.122 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
Cholestasis v0.122 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Cholestasis v0.122 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996
Cholestasis v0.121 NPHP4 Zornitza Stark Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.120 NPHP4 Zornitza Stark Classified gene: NPHP4 as Red List (low evidence)
Cholestasis v0.120 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
Cholestasis v0.119 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.119 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Cholestasis v0.119 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Cholestasis v0.119 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Cholestasis v0.118 NPHP3 Zornitza Stark Publications for gene: NPHP3 were set to
Cholestasis v0.117 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.116 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931, 20007846, 32341812; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.116 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Cholestasis v0.116 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cholestasis v0.116 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from to Joubert syndrome 4 609583; Nephronophthisis 1, juvenile ,MIM# 256100; Senior-Loken syndrome-1 , MIM#266900
Cholestasis v0.115 NPHP1 Zornitza Stark Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.114 NPHP1 Zornitza Stark Classified gene: NPHP1 as Red List (low evidence)
Cholestasis v0.114 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cholestasis v0.113 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4 609583, Nephronophthisis 1, juvenile ,MIM# 256100, Senior-Loken syndrome-1 , MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.113 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Cholestasis v0.113 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.113 MYO5B Zornitza Stark Classified gene: MYO5B as Green List (high evidence)
Cholestasis v0.113 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.112 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO5B were set to 28027573; 27532546
Phenotypes for gene: MYO5B were set to Cholestasis; Microvillus inclusion disease, MIM#251850
Review for gene: MYO5B was set to GREEN
Added comment: Cholestasis has been reported in association with microvillus inclusion disease, but PMID: 28027573 and PMID: 27532546 also report cholestasis with normal or low γ‐glutamyltransferase activity, without diarrhoea, in a total of 13 unrelated individuals with biallelic variants in MYO5B. The youngest proband presented at 2 days of age, although in most cases the onset of symptoms was at more than one month of age.
Sources: Expert list
Cholestasis v0.111 MVK Zornitza Stark Marked gene: MVK as ready
Cholestasis v0.111 MVK Zornitza Stark Gene: mvk has been classified as Red List (Low Evidence).
Cholestasis v0.111 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Mevalonic aciduria, MIM# 610377
Cholestasis v0.110 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.109 MVK Zornitza Stark Classified gene: MVK as Red List (low evidence)
Cholestasis v0.109 MVK Zornitza Stark Gene: mvk has been classified as Red List (Low Evidence).
Cholestasis v0.108 MVK Zornitza Stark reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.108 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Cholestasis v0.108 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Cholestasis v0.108 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Cholestasis v0.107 MPV17 Zornitza Stark Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.106 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.106 MPI Zornitza Stark Marked gene: MPI as ready
Cholestasis v0.106 MPI Zornitza Stark Gene: mpi has been classified as Amber List (Moderate Evidence).
Cholestasis v0.106 MPI Zornitza Stark Phenotypes for gene: MPI were changed from to Congenital disorder of glycosylation, type Ib, MIM# 602579
Cholestasis v0.105 MPI Zornitza Stark Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.104 MPI Zornitza Stark Classified gene: MPI as Amber List (moderate evidence)
Cholestasis v0.104 MPI Zornitza Stark Gene: mpi has been classified as Amber List (Moderate Evidence).
Cholestasis v0.103 MPI Zornitza Stark reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.103 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Cholestasis v0.103 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Cholestasis v0.103 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Meckel syndrome 1, MIM# 249000
Cholestasis v0.102 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.101 MKS1 Zornitza Stark Classified gene: MKS1 as Red List (low evidence)
Cholestasis v0.101 MKS1 Zornitza Stark Gene: mks1 has been classified as Red List (Low Evidence).
Cholestasis v0.100 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 1, MIM# 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.100 LIPA Zornitza Stark Marked gene: LIPA as ready
Cholestasis v0.100 LIPA Zornitza Stark Gene: lipa has been classified as Amber List (Moderate Evidence).
Cholestasis v0.100 LIPA Zornitza Stark Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000
Cholestasis v0.99 LIPA Zornitza Stark Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.98 LIPA Zornitza Stark Classified gene: LIPA as Amber List (moderate evidence)
Cholestasis v0.98 LIPA Zornitza Stark Gene: lipa has been classified as Amber List (Moderate Evidence).
Cholestasis v0.97 LIPA Zornitza Stark reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.97 LARS Zornitza Stark Classified gene: LARS as Amber List (moderate evidence)
Cholestasis v0.97 LARS Zornitza Stark Gene: lars has been classified as Amber List (Moderate Evidence).
Cholestasis v0.96 LARS Zornitza Stark changed review comment from: Six unrelated families reported in the literature, reviewed in PMID: 30349989.; to: Six unrelated families reported in the literature, reviewed in PMID: 30349989. However, presenting phenotype is that of liver failure rather than cholestasis.
Cholestasis v0.96 LARS Zornitza Stark edited their review of gene: LARS: Changed rating: AMBER
Cholestasis v0.96 INVS Zornitza Stark Marked gene: INVS as ready
Cholestasis v0.96 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Cholestasis v0.96 INVS Zornitza Stark Phenotypes for gene: INVS were changed from to Nephronophthisis 2, infantile, MIM# 602088
Cholestasis v0.95 INVS Zornitza Stark Publications for gene: INVS were set to
Cholestasis v0.94 INVS Zornitza Stark Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.93 INVS Zornitza Stark Classified gene: INVS as Red List (low evidence)
Cholestasis v0.93 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Cholestasis v0.92 INVS Zornitza Stark reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: 10421642; Phenotypes: Nephronophthisis 2, infantile, MIM# 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.92 IARS Zornitza Stark Tag new gene name tag was added to gene: IARS.
Cholestasis v0.92 IARS Zornitza Stark Publications for gene: IARS were set to 27426735
Cholestasis v0.91 IARS Zornitza Stark Classified gene: IARS as Amber List (moderate evidence)
Cholestasis v0.91 IARS Zornitza Stark Gene: iars has been classified as Amber List (Moderate Evidence).
Cholestasis v0.90 IARS Zornitza Stark reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.90 HNF1B Zornitza Stark Marked gene: HNF1B as ready
Cholestasis v0.90 HNF1B Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence).
Cholestasis v0.90 HNF1B Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920
Cholestasis v0.89 HNF1B Zornitza Stark Publications for gene: HNF1B were set to
Cholestasis v0.88 HNF1B Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.87 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324003, 29727438, 30791938, 25741167; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3735 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Mendeliome v0.3735 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Mendeliome v0.3735 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Mendeliome v0.3735 HFE2 Zornitza Stark Phenotypes for gene: HFE2 were changed from to Hemochromatosis, type 2A, MIM# 602390
Mendeliome v0.3734 HFE2 Zornitza Stark Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3733 HFE2 Zornitza Stark reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, MIM# 602390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HJV.
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.8 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HJV.
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.4 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Cholestasis v0.87 HFE2 Zornitza Stark Marked gene: HFE2 as ready
Cholestasis v0.87 HFE2 Zornitza Stark Gene: hfe2 has been classified as Red List (Low Evidence).
Cholestasis v0.87 HFE2 Zornitza Stark Phenotypes for gene: HFE2 were changed from to Hemochromatosis, type 2A, MIM# 602390
Cholestasis v0.86 HFE2 Zornitza Stark Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.85 HFE2 Zornitza Stark Classified gene: HFE2 as Red List (low evidence)
Cholestasis v0.85 HFE2 Zornitza Stark Gene: hfe2 has been classified as Red List (Low Evidence).
Cholestasis v0.84 HFE2 Zornitza Stark Tag new gene name tag was added to gene: HFE2.
Cholestasis v0.84 HFE2 Zornitza Stark reviewed gene: HFE2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, MIM# 602390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.84 HFE Zornitza Stark Marked gene: HFE as ready
Cholestasis v0.84 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Cholestasis v0.84 HFE Zornitza Stark Phenotypes for gene: HFE were changed from to Hemochromatosis, MIM# 235200
Cholestasis v0.83 HFE Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.82 HFE Zornitza Stark Classified gene: HFE as Red List (low evidence)
Cholestasis v0.82 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Cholestasis v0.81 HFE Zornitza Stark reviewed gene: HFE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.81 HAMP Zornitza Stark Marked gene: HAMP as ready
Cholestasis v0.81 HAMP Zornitza Stark Gene: hamp has been classified as Red List (Low Evidence).
Cholestasis v0.81 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from to Hemochromatosis, type 2B, MIM# 613313
Cholestasis v0.80 HAMP Zornitza Stark Publications for gene: HAMP were set to
Cholestasis v0.79 HAMP Zornitza Stark Mode of inheritance for gene: HAMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.78 HAMP Zornitza Stark Classified gene: HAMP as Red List (low evidence)
Cholestasis v0.78 HAMP Zornitza Stark Gene: hamp has been classified as Red List (Low Evidence).
Cholestasis v0.77 HAMP Zornitza Stark reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: None; Publications: 12469120; Phenotypes: Hemochromatosis, type 2B, MIM# 613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.77 HADHA Zornitza Stark Marked gene: HADHA as ready
Cholestasis v0.77 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Cholestasis v0.77 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016; Mitochondrial trifunctional protein deficiency, MIM# 609015
Cholestasis v0.76 HADHA Zornitza Stark Publications for gene: HADHA were set to
Cholestasis v0.75 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.74 HADHA Zornitza Stark Classified gene: HADHA as Red List (low evidence)
Cholestasis v0.74 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Cholestasis v0.73 HADHA Zornitza Stark reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: None; Publications: 9003853; Phenotypes: LCHAD deficiency, MIM# 609016, Mitochondrial trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3733 FAM50A Zornitza Stark Marked gene: FAM50A as ready
Mendeliome v0.3733 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Mendeliome v0.3733 FAM50A Zornitza Stark Classified gene: FAM50A as Green List (high evidence)
Mendeliome v0.3733 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Mendeliome v0.3732 FAM50A Zornitza Stark gene: FAM50A was added
gene: FAM50A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FAM50A were set to 32703943
Phenotypes for gene: FAM50A were set to Mental retardation syndrome, X-linked, Armfield type (MIM #300261)
Review for gene: FAM50A was set to GREEN
Added comment: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference. The authors provide clinical details on 6 affected individuals from 5 families. Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6). In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam). In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40). Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3). Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones). Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt. Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish. Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins. Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism. Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.).
Sources: Literature
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Marked gene: FAM50A as ready
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Gene: fam50a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Classified gene: FAM50A as Amber List (moderate evidence)
Genetic Epilepsy v0.773 FAM50A Zornitza Stark Gene: fam50a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Marked gene: FAM50A as ready
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Classified gene: FAM50A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2834 FAM50A Zornitza Stark Gene: fam50a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.772 FAM50A Konstantinos Varvagiannis gene: FAM50A was added
gene: FAM50A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FAM50A were set to 32703943
Phenotypes for gene: FAM50A were set to Mental retardation syndrome, X-linked, Armfield type (MIM #300261)
Penetrance for gene: FAM50A were set to unknown
Review for gene: FAM50A was set to AMBER
Added comment: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference.

The authors provide clinical details on 6 affected individuals from 5 families.

Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6).

In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam).

In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40).

Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3).

Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones).

Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt.

Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish.

Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins.

Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism.

Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.).

Please consider inclusion in the ID panel with green rating and epilepsy panel with amber (seizures in individuals from 2 families).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2833 FAM50A Konstantinos Varvagiannis gene: FAM50A was added
gene: FAM50A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FAM50A were set to 32703943
Phenotypes for gene: FAM50A were set to Mental retardation syndrome, X-linked, Armfield type (MIM #300261)
Penetrance for gene: FAM50A were set to unknown
Review for gene: FAM50A was set to GREEN
Added comment: Lee et al (2020 - PMID: 32703943) provide evidence that Armfield X-Linked intellectual disability syndrome is caused by monoallelic FAM50A pathogenic variants. The current review is based only on this reference.

The authors provide clinical details on 6 affected individuals from 5 families.

Features included postnatal growth delay, DD and ID (6/6 - also evident for those without formal IQ assesment), seizures (3/6 from 2 families), prominent forehead with presence of other facial features and variable head circumference (5th to >97th %le), ocular anomalies (5/6 - strabismus/nystagmus/Axenfeld-Rieger), cardiac (3/6 - ASD/Fallot) and genitourinary anomalies (3/6).

In the first of these families (Armfield et al 1999 - PMID: 10398235), linkage analysis followed by additional studies (Sanger, NGS of 718 genes on chrX, X-exome NGS - several refs provided) allowed the identification of a FAM50A variant. Variants in other families were identified by singleton (1 fam) or trio-ES (3 fam).

In affected individuals from 3 families, the variant had occurred de novo. Carrier females in the other families were unaffected (based on pedigrees and/or the original publication). XCI was rather biased in most obligate carrier females from the 1st family (although this ranged from 95:5 to 60:40).

Missense variants were reported in all affected subjects incl. Trp206Gly, Asp255Gly, Asp255Asn (dn), Glu254Gly (dn), Arg273Trp (dn) (NM_004699.3).

Previous studies have demonstrated that FAM50A has ubiquitous expression in human fetal and adult tissues (incl. brain in fetal ones).

Immunostaining suggests a nuclear localization for the protein (NIH/3T3 cells). Comparison of protein levels in LCLs from affected males and controls did not demonstrate significant differences. Protein localization for 3 variants (transfection of COS-7 cells) was shown to be similar to wt.

Complementation studies in zebrafish provided evidence that the identified variants confer partial loss of function (rescue of the morpholino phenotype with co-injection of wt but not mt mRNA). The zebrafish ko model seemed to recapitulate the abnormal development of cephalic structures and was indicative of diminished/defective neurogenesis. Transcriptional dysregulation was demonstrated in zebrafish (altered levels and mis-splicing). Upregulation of spliceosome effectors was demonstrated in ko zebrafish.

Similarly, mRNA expression and splicing defects were demonstrated in LCLs from affected individuals. FAM50A pulldown followed by mass spectrometry in transfected HEK293T cells demonstrated enrichment of binding proteins involved in RNA processing and co-immunoprecipitation assays (transfected U-87 cells) suggested that FAM50A interacts with spliceosome U5 and C-complex proteins.

Overall aberrant spliceosome C-complex function is suggested as the underlying pathogenetic mechanism.

Several other neurodevelopmental syndromes are caused by variants in genes encoding C-complex affiliated proteins (incl. EFTUD2, EIF4A3, THOC2, etc.).

Please consider inclusion in the ID panel with green rating and epilepsy panel with amber (seizures in individuals from 2 families).
Sources: Literature
Cholestasis v0.73 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Cholestasis v0.73 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Cholestasis v0.73 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500
Cholestasis v0.72 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.71 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM# 232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.71 GBA Zornitza Stark Marked gene: GBA as ready
Cholestasis v0.71 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Cholestasis v0.71 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease
Cholestasis v0.70 GBA Zornitza Stark Publications for gene: GBA were set to
Cholestasis v0.69 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.68 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32324335; Phenotypes: Gaucher disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.68 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.67 GALT Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosemia, MIM# 230400
Cholestasis v0.66 GALT Zornitza Stark Publications for gene: GALT were set to
Cholestasis v0.66 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.65 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30693370; Phenotypes: Galactosemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.65 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Cholestasis v0.65 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.65 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM# 270400
Cholestasis v0.64 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Cholestasis v0.63 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.62 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
Cholestasis v0.62 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.61 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: 20052364; Phenotypes: Smith-Lemli-Opitz syndrome, MIM# 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.61 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Cholestasis v0.61 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Cholestasis v0.61 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Cholestasis v0.60 DGUOK Zornitza Stark Mode of inheritance for gene: DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.59 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.59 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Cholestasis v0.59 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Cholestasis v0.59 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from to Bile acid synthesis defect, congenital, 3, MIM# 613812
Cholestasis v0.58 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Cholestasis v0.57 CYP7B1 Zornitza Stark Mode of inheritance for gene: CYP7B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.56 CYP7B1 Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337596, 30366773, 9802883; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.56 COG7 Zornitza Stark Marked gene: COG7 as ready
Cholestasis v0.56 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Cholestasis v0.56 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Cholestasis v0.55 COG7 Zornitza Stark Publications for gene: COG7 were set to
Cholestasis v0.54 COG7 Zornitza Stark Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.53 COG7 Zornitza Stark reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19577670, 17395513, 15107842; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.53 CFTR Zornitza Stark Marked gene: CFTR as ready
Cholestasis v0.53 CFTR Zornitza Stark Gene: cftr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.53 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Cholestasis v0.52 CFTR Zornitza Stark Publications for gene: CFTR were set to
Cholestasis v0.51 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.50 CFTR Zornitza Stark Classified gene: CFTR as Amber List (moderate evidence)
Cholestasis v0.50 CFTR Zornitza Stark Gene: cftr has been classified as Amber List (Moderate Evidence).
Cholestasis v0.49 CFTR Zornitza Stark reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25097709; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.49 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Cholestasis v0.49 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Cholestasis v0.49 BCS1L Zornitza Stark Classified gene: BCS1L as Green List (high evidence)
Cholestasis v0.49 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Cholestasis v0.48 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 12215968
Phenotypes for gene: BCS1L were set to GRACILE syndrome, MIM# 603358; Mitochondrial complex III deficiency, nuclear type 1 , MIM#124000
Review for gene: BCS1L was set to GREEN
Added comment: Founder Finnish variant: p.Ser78Gly is linked to this particular phenotype. Other variants in this gene tend to cause a mitochondrial disorder where cholestasis is also a feature.
Sources: Expert list
Cholestasis v0.47 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Cholestasis v0.47 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Cholestasis v0.47 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Cholestasis v0.46 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.45 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.45 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Cholestasis v0.45 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Cholestasis v0.45 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininemia, MIM# 207800
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.44 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.43 ARG1 Zornitza Stark Classified gene: ARG1 as Red List (low evidence)
Cholestasis v0.43 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Cholestasis v0.42 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininemia, MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2833 ADK Zornitza Stark Marked gene: ADK as ready
Intellectual disability syndromic and non-syndromic v0.2833 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2833 ADK Zornitza Stark Phenotypes for gene: ADK were changed from to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Intellectual disability syndromic and non-syndromic v0.2832 ADK Zornitza Stark Publications for gene: ADK were set to
Intellectual disability syndromic and non-syndromic v0.2831 ADK Zornitza Stark Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2830 ADK Zornitza Stark reviewed gene: ADK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3731 ADK Zornitza Stark Marked gene: ADK as ready
Mendeliome v0.3731 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Mendeliome v0.3731 ADK Zornitza Stark Phenotypes for gene: ADK were changed from to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Mendeliome v0.3730 ADK Zornitza Stark Publications for gene: ADK were set to
Mendeliome v0.3729 ADK Zornitza Stark Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3728 ADK Zornitza Stark reviewed gene: ADK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.42 ADK Zornitza Stark Marked gene: ADK as ready
Cholestasis v0.42 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Cholestasis v0.42 ADK Zornitza Stark Phenotypes for gene: ADK were changed from to Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300
Cholestasis v0.41 ADK Zornitza Stark Publications for gene: ADK were set to
Cholestasis v0.40 ADK Zornitza Stark Mode of inheritance for gene: ADK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.39 ADK Zornitza Stark Classified gene: ADK as Red List (low evidence)
Cholestasis v0.39 ADK Zornitza Stark Gene: adk has been classified as Red List (Low Evidence).
Cholestasis v0.38 ADK Zornitza Stark reviewed gene: ADK: Rating: RED; Mode of pathogenicity: None; Publications: 21963049, 17120046; Phenotypes: Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.38 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Cholestasis v0.38 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Red List (Low Evidence).
Cholestasis v0.38 ABCG8 Zornitza Stark Phenotypes for gene: ABCG8 were changed from to Sitosterolemia 1, MIM# 210250
Cholestasis v0.37 ABCG8 Zornitza Stark Publications for gene: ABCG8 were set to
Cholestasis v0.36 ABCG8 Zornitza Stark Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.35 ABCG8 Zornitza Stark Classified gene: ABCG8 as Red List (low evidence)
Cholestasis v0.35 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Red List (Low Evidence).
Cholestasis v0.34 ABCG8 Zornitza Stark reviewed gene: ABCG8: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 1, MIM# 210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.34 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Cholestasis v0.34 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Cholestasis v0.34 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, MIM# 618666
Cholestasis v0.33 ABCG5 Zornitza Stark Publications for gene: ABCG5 were set to
Cholestasis v0.32 ABCG5 Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.31 ABCG5 Zornitza Stark Classified gene: ABCG5 as Red List (low evidence)
Cholestasis v0.31 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence).
Cholestasis v0.30 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: 18441155; Phenotypes: Sitosterolemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.49 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypophosphataemia or rickets v0.21 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hypophosphataemia or rickets v0.20 OCRL Zornitza Stark Marked gene: OCRL as ready
Hypophosphataemia or rickets v0.20 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.20 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Lowe syndrome, MIM# 309000
Hypophosphataemia or rickets v0.19 OCRL Zornitza Stark Publications for gene: OCRL were set to
Hypophosphataemia or rickets v0.18 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.17 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19773212; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Classified gene: FAM20C as Green List (high evidence)
Hypophosphataemia or rickets v0.17 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.16 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Hypophosphataemic Rickets. Sources: Expert list
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775
Review for gene: FAM20C was set to GREEN
Added comment: Severe skeletal dysplasia where low phosphate is a feature.
Sources: Expert list
Hypophosphataemia or rickets v0.15 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3728 SGK3 Zornitza Stark gene: SGK3 was added
gene: SGK3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGK3 were set to 31821448
Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets
Review for gene: SGK3 was set to RED
Added comment: 5 individuals from one family where a splice site variant segregated with disease.
Sources: Literature
Hypophosphataemia or rickets v0.15 SGK3 Zornitza Stark gene: SGK3 was added
gene: SGK3 was added to Hypophosphataemic Rickets. Sources: Literature
Mode of inheritance for gene: SGK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGK3 were set to 31821448
Phenotypes for gene: SGK3 were set to Hypophosphatemic rickets
Review for gene: SGK3 was set to RED
Added comment: 5 individuals from one family where a splice site variant segregated with disease.
Sources: Literature
Hypophosphataemia or rickets v0.14 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Hypophosphataemia or rickets v0.14 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.14 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from to Hypophosphatemic rickets, MIM# 300554
Hypophosphataemia or rickets v0.13 CLCN5 Zornitza Stark Publications for gene: CLCN5 were set to
Hypophosphataemia or rickets v0.12 CLCN5 Zornitza Stark Mode of inheritance for gene: CLCN5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.11 CLCN5 Zornitza Stark Classified gene: CLCN5 as Amber List (moderate evidence)
Hypophosphataemia or rickets v0.11 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Hypophosphataemia or rickets v0.10 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: None; Publications: 8559248, 9596078; Phenotypes: Hypophosphatemic rickets, MIM# 300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypophosphataemia or rickets v0.10 ALPL Zornitza Stark Marked gene: ALPL as ready
Hypophosphataemia or rickets v0.10 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v0.10 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia, infantile, MIM# 241500
Hypophosphataemia or rickets v0.9 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypophosphataemia or rickets v0.8 ALPL Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia, infantile, MIM# 241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Classified gene: WDR81 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.48 WDR81 Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.47 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from Hydrcephalus to Hydrocephalus
Hydrocephalus_Ventriculomegaly v0.47 WDR81 Zornitza Stark Classified gene: WDR81 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.47 WDR81 Zornitza Stark Gene: wdr81 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.46 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 28556411
Phenotypes for gene: WDR81 were set to Hydrcephalus
Review for gene: WDR81 was set to AMBER
Added comment: WDR81 variants reported in 2 families with severe congenital hydrocephalus (PMID 28556411):
Family 13 is a consanguineous couple who lost 2 pregnancies with severe hydrocephalus and cerebellar hypoplasia: a homozygous truncating mutation was identified in WDR81 (NM_001163809.1: c.3286C>T, p. [Gln1096*]).
Family 26 consists of a consanguineous couple with history of stillburth with massive hydrocephalus and absent cerebellum and a male neonate with severe hydrocephalus and Dandy–Walker malformation. A homozygous missense variant in WDR81 was identified (NM_001163809.1:c.845G>A, p. [Gly282Glu]).
Sources: Expert list
Hydrocephalus_Ventriculomegaly v0.45 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Hydrocephalus_Ventriculomegaly v0.45 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.45 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7, MIM# 612301
Hydrocephalus_Ventriculomegaly v0.44 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.43 TNFRSF11A Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 7, MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.43 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Hydrocephalus_Ventriculomegaly v0.43 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.43 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700
Hydrocephalus_Ventriculomegaly v0.42 TCIRG1 Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.41 TCIRG1 Zornitza Stark reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3727 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Mendeliome v0.3727 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Mendeliome v0.3727 SEC24D Zornitza Stark Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294
Mendeliome v0.3726 SEC24D Zornitza Stark Publications for gene: SEC24D were set to
Mendeliome v0.3725 SEC24D Zornitza Stark Mode of inheritance for gene: SEC24D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3724 SEC24D Zornitza Stark reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156, 25683121; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294
Osteogenesis Imperfecta and Osteoporosis v0.45 SEC24D Zornitza Stark Publications for gene: SEC24D were set to
Osteogenesis Imperfecta and Osteoporosis v0.44 SEC24D Zornitza Stark Mode of inheritance for gene: SEC24D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.43 SEC24D Zornitza Stark reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156, 25683121; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Classified gene: SEC24D as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.41 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.40 SEC24D Zornitza Stark gene: SEC24D was added
gene: SEC24D was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 30462379; 27942778; 26467156; 25683121
Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294
Review for gene: SEC24D was set to GREEN
Added comment: Five families reported, hydrocephalus is part of the phenotype.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Marked gene: P4HB as ready
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Phenotypes for gene: P4HB were changed from to Cole-Carpenter syndrome 1, MIM#112240
Craniosynostosis v0.135 P4HB Zornitza Stark Publications for gene: P4HB were set to 25683117; 29384951
Craniosynostosis v0.134 P4HB Zornitza Stark edited their review of gene: P4HB: Changed publications: 30063094, 29263160, 25683117, 29384951; Changed phenotypes: Cole-Carpenter syndrome 1, MIM# 112240
Osteogenesis Imperfecta and Osteoporosis v0.42 P4HB Zornitza Stark Publications for gene: P4HB were set to
Osteogenesis Imperfecta and Osteoporosis v0.41 P4HB Zornitza Stark Mode of inheritance for gene: P4HB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.40 P4HB Zornitza Stark reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3724 P4HB Zornitza Stark Marked gene: P4HB as ready
Mendeliome v0.3724 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Mendeliome v0.3724 P4HB Zornitza Stark Phenotypes for gene: P4HB were changed from to Cole-Carpenter syndrome 1, MIM#112240
Mendeliome v0.3723 P4HB Zornitza Stark Publications for gene: P4HB were set to
Mendeliome v0.3722 P4HB Zornitza Stark Mode of inheritance for gene: P4HB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.134 P4HB Zornitza Stark changed review comment from: Craniosynostosis is a feature of this syndrome.
Sources: Expert list; to: Craniosynostosis is a feature of this syndrome. Note recurrent de novo missense variant, p.Tyr393Cys.
Sources: Expert list
Mendeliome v0.3721 P4HB Zornitza Stark reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Marked gene: P4HB as ready
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Classified gene: P4HB as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.39 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.38 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 30063094; 29263160; 25683117; 29384951
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240
Review for gene: P4HB was set to GREEN
Added comment: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype.
Sources: Expert list
Mendeliome v0.3721 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Mendeliome v0.3721 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Mendeliome v0.3721 MPDZ Zornitza Stark Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219
Mendeliome v0.3720 MPDZ Zornitza Stark Publications for gene: MPDZ were set to
Mendeliome v0.3719 MPDZ Zornitza Stark Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark changed review comment from: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.; to: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model.
Mendeliome v0.3718 MPDZ Zornitza Stark changed review comment from: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families report from different ethnic backgrounds and at least 4 different variants. Mouse model.; to: Five Saudi families reported with same homozygous variant, p.Gln210Ter, founder effect. Additional 4 families reported from different ethnic backgrounds and at least 4 different variants. Mouse model.
Mendeliome v0.3718 MPDZ Zornitza Stark reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.37 MPDZ Zornitza Stark Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219
Hydrocephalus_Ventriculomegaly v0.36 MPDZ Zornitza Stark Publications for gene: MPDZ were set to
Hydrocephalus_Ventriculomegaly v0.35 MPDZ Zornitza Stark Mode of inheritance for gene: MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.34 MPDZ Zornitza Stark reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Classified gene: KIF7 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.34 KIF7 Zornitza Stark Gene: kif7 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.33 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 26174511; 21552264
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome
Review for gene: KIF7 was set to AMBER
Added comment: Variants in KIF7 cause ciliopathies, which range in severity of structural brain malformations with hydrolethalus at the extreme end of the spectrum (one family reported). Note another report of bi-allelic variants in an individuals with a milder phenotype, more consistent with acrocallosal syndrome, who also had hydrocephalus.
Sources: Expert list
Hydrocephalus_Ventriculomegaly v0.32 ISLR2 Zornitza Stark edited their review of gene: ISLR2: Changed rating: AMBER
Hydrocephalus_Ventriculomegaly v0.32 FMR1 Zornitza Stark Marked gene: FMR1 as ready
Hydrocephalus_Ventriculomegaly v0.32 FMR1 Zornitza Stark Gene: fmr1 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.32 FMR1 Zornitza Stark Phenotypes for gene: FMR1 were changed from to Fragile X syndrome, MIM# 300624
Hydrocephalus_Ventriculomegaly v0.31 FMR1 Zornitza Stark Mode of inheritance for gene: FMR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hydrocephalus_Ventriculomegaly v0.30 FMR1 Zornitza Stark Classified gene: FMR1 as Red List (low evidence)
Hydrocephalus_Ventriculomegaly v0.30 FMR1 Zornitza Stark Gene: fmr1 has been classified as Red List (Low Evidence).
Hydrocephalus_Ventriculomegaly v0.29 FMR1 Zornitza Stark reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM# 300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Arthrogryposis v0.202 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Arthrogryposis v0.201 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Arthrogryposis v0.200 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.199 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported, arthrogryposis not a prominent feature.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.186 B3GNT2 Zornitza Stark changed review comment from: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; to: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities observed in only one of four affected sibs in the other family.
Callosome v0.186 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Callosome v0.185 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Callosome v0.184 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.183 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.46 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Lissencephaly and Band Heterotopia v0.45 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Lissencephaly and Band Heterotopia v0.44 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.43 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. In one family, the brain phenotype was that of anencephaly, and in the second family cobblestone lishencephaly was reported.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3718 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Mendeliome v0.3717 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Mendeliome v0.3716 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3715 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Amber List (moderate evidence)
Mendeliome v0.3715 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3714 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported.; Changed rating: AMBER; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.63 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Muscular dystrophy and myopathy_Paediatric v0.62 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Muscular dystrophy and myopathy_Paediatric v0.61 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.60 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v0.60 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v0.59 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported.; Changed rating: AMBER; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.29 ARX Zornitza Stark Marked gene: ARX as ready
Hydrocephalus_Ventriculomegaly v0.29 ARX Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.29 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to Hydranencephaly with abnormal genitalia, MIM# 300215
Hydrocephalus_Ventriculomegaly v0.28 ARX Zornitza Stark Publications for gene: ARX were set to
Hydrocephalus_Ventriculomegaly v0.27 ARX Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrocephalus_Ventriculomegaly v0.26 ARX Zornitza Stark Classified gene: ARX as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.26 ARX Zornitza Stark Gene: arx has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.25 ARX Zornitza Stark reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: None; Publications: 14722918; Phenotypes: Hydranencephaly with abnormal genitalia, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Glaucoma congenital v0.47 TEK Zornitza Stark Marked gene: TEK as ready
Glaucoma congenital v0.47 TEK Zornitza Stark Gene: tek has been classified as Green List (High Evidence).
Glaucoma congenital v0.47 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Early-onset Dementia v0.56 MAPT Zornitza Stark Marked gene: MAPT as ready
Early-onset Dementia v0.56 MAPT Zornitza Stark Gene: mapt has been classified as Green List (High Evidence).
Early-onset Dementia v0.56 MAPT Zornitza Stark Phenotypes for gene: MAPT were changed from to Supranuclear palsy, progressive (MIM# 601104) AD; Supranuclear palsy, progressive atypical (MIM# 260540) AR
Early-onset Dementia v0.55 MAPT Zornitza Stark Publications for gene: MAPT were set to
Early-onset Dementia v0.54 MAPT Zornitza Stark Mode of inheritance for gene: MAPT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.53 MAPT Ain Roesley reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20838030, 11220749; Phenotypes: Supranuclear palsy, progressive (MIM# 601104) AD, Supranuclear palsy, progressive atypical (MIM# 260540) AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic Cardiomyopathy v0.36 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy
Arrhythmogenic Cardiomyopathy v0.35 PLN Ivan Macciocca reviewed gene: PLN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, dilated cardiomyopathy; Mode of inheritance: None
Mendeliome v0.3714 SOX6 Zornitza Stark Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971
Mendeliome v0.3713 SOX6 Zornitza Stark reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v0.134 SOX6 Zornitza Stark Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971
Craniosynostosis v0.133 SOX6 Zornitza Stark reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2830 SOX6 Zornitza Stark Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971
Intellectual disability syndromic and non-syndromic v0.2829 SOX6 Zornitza Stark edited their review of gene: SOX6: Changed rating: GREEN; Changed phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3713 HYLS1 Melanie Marty changed review comment from: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human and patient cells have shown mislocalisation of the protein to the nucleus (PMID: 15843405, PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774).

2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932).

No other variants have been reported as pathogenic in this gene.; to: A recurring homozygous missense variant p.Asp211Gly has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human cells have shown mislocalisation of the protein to the nucleus (PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774).

2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932).

No other variants have been reported as pathogenic in this gene.
Genetic Epilepsy v0.772 CNTN2 Zornitza Stark gene: CNTN2 was added
gene: CNTN2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CNTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN2 were set to 23518707
Phenotypes for gene: CNTN2 were set to Epilepsy
Review for gene: CNTN2 was set to RED
Added comment: Single family reported in 2013, supportive mouse model.
Sources: Literature
Mendeliome v0.3713 CNTN2 Zornitza Stark Marked gene: CNTN2 as ready
Mendeliome v0.3713 CNTN2 Zornitza Stark Gene: cntn2 has been classified as Red List (Low Evidence).
Mendeliome v0.3713 CNTN2 Zornitza Stark gene: CNTN2 was added
gene: CNTN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN2 were set to 23518707
Phenotypes for gene: CNTN2 were set to Epilepsy
Review for gene: CNTN2 was set to RED
Added comment: Single family reported in 2013, supportive mouse model.
Sources: Literature
Mendeliome v0.3712 DNAH8 Zornitza Stark Classified gene: DNAH8 as Green List (high evidence)
Mendeliome v0.3712 DNAH8 Zornitza Stark Gene: dnah8 has been classified as Green List (High Evidence).
Mendeliome v0.3711 DNAH8 Zornitza Stark edited their review of gene: DNAH8: Added comment: Four additional individuals with sperm morphological abnormalities and male infertility reported.; Changed rating: GREEN; Changed publications: 31178125, 24307375, 32619401, 32681648
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Marked gene: MRAS as ready
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Classified gene: MRAS as Green List (high evidence)
Cardiomyopathy_Paediatric v0.3 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.2 MRAS Zornitza Stark gene: MRAS was added
gene: MRAS was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466
Phenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499
Review for gene: MRAS was set to GREEN
Added comment: At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported
Sources: Expert list
Cardiomyopathy_Paediatric v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3711 DTNA Zornitza Stark Marked gene: DTNA as ready
Mendeliome v0.3711 DTNA Zornitza Stark Gene: dtna has been classified as Red List (Low Evidence).
Mendeliome v0.3711 DTNA Zornitza Stark Phenotypes for gene: DTNA were changed from to Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169
Mendeliome v0.3710 DTNA Zornitza Stark Publications for gene: DTNA were set to
Mendeliome v0.3709 DTNA Zornitza Stark Mode of inheritance for gene: DTNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3708 DTNA Zornitza Stark Classified gene: DTNA as Red List (low evidence)
Mendeliome v0.3708 DTNA Zornitza Stark Gene: dtna has been classified as Red List (Low Evidence).
Mendeliome v0.3707 DTNA Zornitza Stark reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: None; Publications: 29118297, 11238270, 16427346; Phenotypes: Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v0.147 RAC1 Zornitza Stark Marked gene: RAC1 as ready
Microcephaly v0.147 RAC1 Zornitza Stark Gene: rac1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.147 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from to Mental retardation, autosomal dominant 48, MIM# 617751
Microcephaly v0.146 RAC1 Zornitza Stark Publications for gene: RAC1 were set to
Microcephaly v0.145 RAC1 Zornitza Stark Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2829 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Intellectual disability syndromic and non-syndromic v0.2829 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2829 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2828 HYLS1 Zornitza Stark changed review comment from: Given that generally most affected individuals die in utero or shortly after birth, this is probably not the right panel for this gene.; to: Single family reported with Joubert phenotype, generally most affected individuals with hydrolethalus die in utero or shortly after birth so would not present with ID. Note founder variant in Finnish population associated with the hydrolethalus phenotype.
Intellectual disability syndromic and non-syndromic v0.2828 HYLS1 Zornitza Stark edited their review of gene: HYLS1: Changed rating: AMBER; Changed publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.110 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680); Joubert syndrome
Renal Ciliopathies and Nephronophthisis v0.109 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Renal Ciliopathies and Nephronophthisis v0.108 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.107 HYLS1 Zornitza Stark Classified gene: HYLS1 as Red List (low evidence)
Renal Ciliopathies and Nephronophthisis v0.107 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.106 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Renal Ciliopathies and Nephronophthisis v0.106 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Skeletal Dysplasia_Fetal v0.27 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Skeletal Dysplasia_Fetal v0.26 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.25 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.25 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.24 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Skeletal Dysplasia_Fetal v0.24 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.183 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Callosome v0.183 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Callosome v0.183 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Callosome v0.182 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Callosome v0.181 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.180 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Callosome v0.180 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Callosome v0.179 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.169 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Polydactyly v0.169 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Polydactyly v0.169 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Polydactyly v0.168 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Polydactyly v0.167 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Polydactyly v0.167 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Polydactyly v0.166 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Polydactyly v0.166 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.202 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to 15843405; 18648327; 19400947; 19656802; 32509774
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.25 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Hydrocephalus_Ventriculomegaly v0.24 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Hydrocephalus_Ventriculomegaly v0.23 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.22 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.22 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.21 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.201 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Ciliopathies v0.201 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Ciliopathies v0.201 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Ciliopathies v0.200 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Ciliopathies v0.199 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.198 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Ciliopathies v0.198 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3707 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Mendeliome v0.3707 HYLS1 Zornitza Stark Added comment: Comment when marking as ready: Borderline Amber/Green and mechanism unclear. However, given at least two variants reported with a ciliopathy phenotype and supporting functional data from multiple animal models all indicative of ciliopathy, keep Green.
Mendeliome v0.3707 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Mendeliome v0.3707 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Mendeliome v0.3707 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Mendeliome v0.3706 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Mendeliome v0.3705 HYLS1 Zornitza Stark Mode of pathogenicity for gene: HYLS1 was changed from to Other
Mendeliome v0.3704 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3703 HYLS1 Melanie Marty reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.144 RAC1 Zornitza Stark Classified gene: RAC1 as Amber List (moderate evidence)
Microcephaly v0.144 RAC1 Zornitza Stark Gene: rac1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.143 RAC1 Zornitza Stark reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30042656, 29276006, 30293988; Phenotypes: Mental retardation, autosomal dominant 48, MIM# 617751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2828 RAC1 Zornitza Stark Marked gene: RAC1 as ready
Intellectual disability syndromic and non-syndromic v0.2828 RAC1 Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2828 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Mental retardation, autosomal dominant 48, MIM# 617751
Intellectual disability syndromic and non-syndromic v0.2827 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48 617751 to Mental retardation, autosomal dominant 48, MIM# 617751
Intellectual disability syndromic and non-syndromic v0.2827 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from to Mental retardation, autosomal dominant 48 617751
Intellectual disability syndromic and non-syndromic v0.2826 RAC1 Zornitza Stark Publications for gene: RAC1 were set to
Intellectual disability syndromic and non-syndromic v0.2825 RAC1 Zornitza Stark Mode of pathogenicity for gene: RAC1 was changed from to Other
Intellectual disability syndromic and non-syndromic v0.2824 RAC1 Zornitza Stark Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2823 RAC1 Zornitza Stark edited their review of gene: RAC1: Changed phenotypes: Mental retardation, autosomal dominant 48 617751
Mendeliome v0.3703 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD to Mental retardation, autosomal dominant 48, MIM# 617751
Intellectual disability syndromic and non-syndromic v0.2823 RAC1 Zornitza Stark reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30042656, 29276006, 30293988; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3702 RAC1 Zornitza Stark Marked gene: RAC1 as ready
Mendeliome v0.3702 RAC1 Zornitza Stark Gene: rac1 has been classified as Green List (High Evidence).
Mendeliome v0.3702 RAC1 Zornitza Stark Phenotypes for gene: RAC1 were changed from to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD
Mendeliome v0.3701 RAC1 Zornitza Stark Publications for gene: RAC1 were set to
Mendeliome v0.3700 RAC1 Zornitza Stark Mode of pathogenicity for gene: RAC1 was changed from to Other
Mendeliome v0.3699 RAC1 Zornitza Stark Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3698 RAC1 Kristin Rigbye reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30042656, 29276006, 30293988; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3698 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Mendeliome v0.3698 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Mendeliome v0.3698 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anemia, complementation group D2, MIM#227646
Mendeliome v0.3697 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3696 FANCD2 Michelle Torres reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM#227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Adult_SuperPanel v0.309 Zornitza Stark Panel name changed from Cardiomyopathy_SuperPanel to Cardiomyopathy_Adult_SuperPanel
Changed child panels to: Hypertrophic cardiomyopathy_HCM; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy
Callosome v0.179 BCOR Zornitza Stark Marked gene: BCOR as ready
Callosome v0.179 BCOR Zornitza Stark Gene: bcor has been classified as Red List (Low Evidence).
Callosome v0.179 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Callosome v0.178 BCOR Zornitza Stark Publications for gene: BCOR were set to
Callosome v0.177 BCOR Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Callosome v0.176 BCOR Zornitza Stark Classified gene: BCOR as Red List (low evidence)
Callosome v0.176 BCOR Zornitza Stark Gene: bcor has been classified as Red List (Low Evidence).
Callosome v0.175 BCOR Zornitza Stark reviewed gene: BCOR: Rating: RED; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital Heart Defect v0.55 BCOR Zornitza Stark Marked gene: BCOR as ready
Congenital Heart Defect v0.55 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Congenital Heart Defect v0.55 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Congenital Heart Defect v0.54 BCOR Zornitza Stark Publications for gene: BCOR were set to
Congenital Heart Defect v0.53 BCOR Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital Heart Defect v0.52 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.225 BCOR Zornitza Stark Marked gene: BCOR as ready
Cataract v0.225 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Cataract v0.225 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Cataract v0.224 BCOR Zornitza Stark Publications for gene: BCOR were set to
Cataract v0.223 BCOR Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.222 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Marked gene: BCOR as ready
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.65 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Anophthalmia_Microphthalmia_Coloboma v0.64 BCOR Zornitza Stark Publications for gene: BCOR were set to
Anophthalmia_Microphthalmia_Coloboma v0.63 BCOR Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Anophthalmia_Microphthalmia_Coloboma v0.62 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3696 BCOR Zornitza Stark Marked gene: BCOR as ready
Mendeliome v0.3696 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Mendeliome v0.3696 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Mendeliome v0.3695 BCOR Zornitza Stark Publications for gene: BCOR were set to
Mendeliome v0.3694 BCOR Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3693 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Marked gene: BCOR as ready
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2823 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Intellectual disability syndromic and non-syndromic v0.2822 BCOR Zornitza Stark Publications for gene: BCOR were set to
Intellectual disability syndromic and non-syndromic v0.2821 BCOR Zornitza Stark Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.2820 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3693 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mendeliome v0.3692 SLC25A10 Zornitza Stark edited their review of gene: SLC25A10: Changed phenotypes: Intractable epileptic encephalopathy, Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.459 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.458 SLC25A10 Zornitza Stark reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Adult_SuperPanel v0.296 Zornitza Stark Changed child panels to: Hypertrophic cardiomyopathy_HCM; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy; Left Ventricular Non-compaction Cardiomyopathy; Cardiomyopathy_Paediatric
Dilated Cardiomyopathy v0.83 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypertrophic cardiomyopathy v0.153 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypertrophic cardiomyopathy v0.152 GAA Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II, MIM#232300
Hypertrophic cardiomyopathy v0.151 GAA Zornitza Stark Publications for gene: GAA were set to
Hypertrophic cardiomyopathy v0.150 GAA Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Classified gene: FHL1 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.149 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.148 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Review for gene: FHL1 was set to GREEN
Added comment: HCM is part of the phenotype.
Sources: Expert list
Hypertrophic cardiomyopathy v0.147 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Hypertrophic cardiomyopathy v0.147 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.147 CACNA1C Zornitza Stark gene: CACNA1C was added
gene: CACNA1C was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to 26253506; 28490369; 28866666
Phenotypes for gene: CACNA1C were set to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities
Review for gene: CACNA1C was set to RED
Added comment: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families.
Sources: Expert list
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Marked gene: LAMA4 as ready
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.146 GLA Zornitza Stark changed review comment from: HOCM can be a presenting feature of Fabry.; to: HCM can be a presenting feature of Fabry.
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to 26419279; 16427346; 14660611; 14662268
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Classified gene: LDB3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 LDB3 Paul De Fazio reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Marked gene: BVES as ready
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Added comment: Comment when marking as ready: Not an arrhythmogenic cardiomyopathy.
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Gene: bves has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Classified gene: BVES as Red List (low evidence)
Arrhythmogenic Cardiomyopathy v0.35 BVES Zornitza Stark Gene: bves has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Added comment: Comment when marking as ready: Included due to phenotypic overlap between ARVC and DCM, limited evidence for association with DCM.
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Classified gene: PKP2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Marked gene: EMD as ready
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Classified gene: EMD as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio edited their review of gene: PKP2: Changed rating: AMBER
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio gene: PKP2 was added
gene: PKP2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 15489853; 16567567
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)
gene: PKP2 was marked as current diagnostic
Added comment: Mutations in the PKP2 gene have been identified in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. ARVC increases the risk of an abnormal heartbeat (arrhythmia) and sudden death.

https://ghr.nlm.nih.gov/gene/PKP2
PMID:15489853, 16567567
https://doi.org/10.1371/journal.pone.0100560

ClinVar reports 1 variants only in an individual with DCM annotated as “LP” p.(His679Thr). No data regarding the variant associated with DCM is reported in GnomAD, supporting its low prevalence. However, if this is a variant linked to a clinical phenotype that initially manifested as ACM and then evolved into DCM is yet to be assessed. Considering that clinically cardiomyopathies are diseases with a progressive course, one cannot exclude that DCM cases carrying Pkp2 variants could be cases of advanced Arrythmogenic Cardiomyopathy (ACM or ARVC) which were missed in the initial disease phases. (https://doi.org/10.3389/fcvm.2018.00184)
Sources: Literature
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
Phenotypes for gene: NKX2-5 were set to Dilated cardiomyopathy
Review for gene: NKX2-5 was set to RED
Added comment: Established gene-disease association with multiple cardiac phenotypes.

PMID: 30354339 (2018) - NKX2.5 variant segregated with disease in one large Icelandic family (11 affecteds with the variant, 12 unaffecteds with the variant - some young). Not in GnomAD but in 1/7100 Icelanders (0.0001 pop freq)

PMID: 28690296 (2017) - Cohort of sporadic adult onset DCM, 2 unrelated individuals with novel variants (absent in their control cohort and GnomAD), functional analysis show significantly reduced transcriptional activity and downstream impact on targets GATA4 and TBX20.

PMID: 25503402 (2015) - Cohort of idiopathic DCM, one family with novel variant (absent in GnomAD), segregated with disease in 3 affected family members (3 meiosis, 2 siblings and a child). Functional analysis revealed significantly reduced transcriptional activity

PMID: 27855642 (2016) - Two unrelated families with multiple affecteds. Same residue, alternate changes, both absent in GnomAD. Non-segregation mentioned, reduced penetrance stated explanation.
Sources: Expert list
Dilated Cardiomyopathy v0.75 EMD Paul De Fazio gene: EMD was added
gene: EMD was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 24997722
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Review for gene: EMD was set to AMBER
gene: EMD was marked as current diagnostic
Added comment: Associated with Emery-Dreifuss muscular dystrophy. DCM can be a feature. Can find no evidence of isolated DCM.

1 Chinese family was reported with a frameshift variant in EMD who initially presented with only DCM, but were found to also have very mild skeletal muscle degeneration once the variant was discovered (PMID: 24997722).

After discussion with ZS Emery-Dreifuss can be difficult to diagnose, therefore this gene belongs on this panel.
Sources: Literature
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Marked gene: ILK as ready
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Publications for gene: ILK were set to 17646580; 27886618; 25163546
Dilated Cardiomyopathy v0.75 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Dilated Cardiomyopathy v0.74 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Marked gene: TAZ as ready
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Added comment: Comment when marking as ready: Included in the paediatric cardiomyopathy panel.
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.73 LAMA4 Zornitza Stark Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Classified gene: LAMA4 as Red List (low evidence)
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 LAMA4 Zornitza Stark Tag disputed tag was added to gene: LAMA4.
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 ILK Zornitza Stark Publications for gene: ILK were set to
Mendeliome v0.3692 NKX2-5 Dean Phelan reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30354339, 28690296, 25503402, 27855642; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.70 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.69 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome (MIM# 302060)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.67 LAMA4 Paul De Fazio reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Classified gene: TBX20 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Marked gene: TCAP as ready
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Added comment: Comment when marking as ready: Very limited evidence for a link with DCM, note most of the variants reported have a population frequency that is out of keeping for a rare Mendelian disorder.
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Classified gene: TCAP as Red List (low evidence)
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Marked gene: JUP as ready
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Added comment: Comment when marking as ready: Note DCM is also a feature of Naxos disease, though additional features also present.
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528); Naxos disease, MIM# 601214
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.63 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.62 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Classified gene: ILK as Red List (low evidence)
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Added comment: Comment when marking as ready: No established link with DCM, but included here due to phenotypic overlap with ARVC.
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Tag SV/CNV tag was added to gene: PRDM16.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Added comment: Comment when marking as ready: Associated with LVNC phenotype, included here due to phenotypic overlap with DCM though the evidence for association with DCM is limited.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Added comment: Comment when marking as ready: Borderline number of segregations done as part of the original study.
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Classified gene: GATA6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Marked gene: FLNC as ready
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Marked gene: FKTN as ready
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.55 FKTN Zornitza Stark Tag SV/CNV tag was added to gene: FKTN.
Dilated Cardiomyopathy v0.55 TAZ Ain Roesley reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.55 TBX20 Ain Roesley gene: TBX20 was added
gene: TBX20 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX20 were set to 26118961; 17668378; 27510170
Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy
Penetrance for gene: TBX20 were set to unknown
Review for gene: TBX20 was set to AMBER
Added comment: PMID: 26118961
- 1x missense (p.(Phe256Ile)) (absent in gnomAD) in a family with 4 affecteds across 2 generations (total of 3 meiosis)

PMID: 17668378;
DCM in 2 individuals in a family with a nonsense variant (p.(Gln195*)) (absent in gnomAD)
- 1 also had mitral valve disease
- the other also had atrial septal defect and pulmonary hypertension

PMID: 27510170;
- 1x in a DCM patient (p.(Glu143*) (absent in gnomAD)
- present in 3 other affected family members across 3 generations
- proband's sister and daughter also presented with congenital atrial septal defect (ASD)
Sources: Literature
Dilated Cardiomyopathy v0.55 TCAP Ain Roesley gene: TCAP was added
gene: TCAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCAP were set to 31303467; 15582318; 24037902
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954); Cardiomyopathy, hypertrophic, 25 (MIM# 607487)
Penetrance for gene: TCAP were set to unknown
Review for gene: TCAP was set to AMBER
Added comment: PMID: 31303467;
- 1x DCM patient with a missense classified as a VUS by ACMG scheme.
- Glu105Gln (143 hets in gnomAD)

PMID: 15582318;
- 1x DCM patient with a missense
- Glu132Gln (1 het in gnomad)

PMID: 24037902;
- 5x in DCM cohort, all missense except 1 in-frame del
gnomad counts of each variant:
- Glu13del (280 hets, 1 hom)
- Glu105Lys (28 hets)
- Arg106Cys (5095 hets, 523 homs)
- Ala118Val (80 hets, 1 hom)
- Arg158Cys (absent)
Sources: Literature
Early-onset Dementia v0.53 ATN1 Bryony Thompson Tag STR tag was added to gene: ATN1.
Dilated Cardiomyopathy v0.55 JUP Paul De Fazio gene: JUP was added
gene: JUP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)
Review for gene: JUP was set to AMBER
gene: JUP was marked as current diagnostic
Added comment: Definitive for ARVC by ClinGen but no association with DCM that I can find. This gene is green on PanelApp GEL DCM panel due to phenotypic overlap.
Sources: Literature
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies, although 1 also had a TTN frameshift variant. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I'm not sure where this information comes from.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.55 TMEM43 Ain Roesley gene: TMEM43 was added
gene: TMEM43 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Penetrance for gene: TMEM43 were set to unknown
Review for gene: TMEM43 was set to AMBER
Added comment: Definitive for ARVC by ClinGen working group

p.(Ser358Leu) is known as the "Newfoundland" founder variant

From ClinGen:
At least 9 variants (mostly missense) have been reported. However, the pathogenicity of most of the variants is unknown. The majority of genetic evidence comes from case-level data and segregation data for one founder variant, p.(Ser358Leu), which has been reported in more than 20 families with ARVC and occurred 1x de novo (PMID:18313022;21214875;23812740; 22725725;24598986).

*no reports for isolated DCM
Sources: Literature
Dilated Cardiomyopathy v0.55 PRDM16 Naomi Baker gene: PRDM16 was added
gene: PRDM16 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.
Phenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Review for gene: PRDM16 was set to AMBER
Added comment: Arndt et al., 2013 (PMID:23768516) identified a minimal deletion region of PRDM16 in 1p36del syndrome. Resequencing a cohort of 75 LVNC patients identified three SNV mutations (one truncation, one frameshift, one missense) and sequencing a series of cardiac biopsies from 131 individuals with DCM identified 5 individuals with 4 previously unreported nonsynonomous variants.

This publication was refuted by Leeuw & Houge 2014 (PMID: 24387995).

Deplancq et al., 2020 (PMID: 31965688) describes the first fetal case of left ventricular non‐compaction (LVNC) with a heterozygous de novo nonsense variant.
Sources: Literature
Dilated Cardiomyopathy v0.55 GATA6 Paul De Fazio gene: GATA6 was added
gene: GATA6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25119427; 31301121; 20705924
Phenotypes for gene: GATA6 were set to Dilated cardiomyopathy
Review for gene: GATA6 was set to AMBER
gene: GATA6 was marked as current diagnostic
Added comment: PMID 25119427: 2 Chinese DCM families from a cohort of 140 reported with missense variants in GATA6 (both variants absent from gnomAD). Variants segregated with disease. Luciferase reporter assays showed the GATA6 mutant proteins caused reduced transcriptional activation.

Other clinical reports list complex cardiac phenotypes associated with other abnormalities (especially pancreatic) (PMID: 31301121).

Combinatorial deletion of Gata4 and Gata6 from the adult heart of mice resulted in dilated cardiomyopathy and lethality by 16 weeks of age (PMID: 20705924).
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio changed review comment from: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature; to: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a much higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio gene: FLNC was added
gene: FLNC was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656
Phenotypes for gene: FLNC were set to Dilated cardiomyopathy
Review for gene: FLNC was set to GREEN
gene: FLNC was marked as current diagnostic
Added comment: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Marked gene: ARSE as ready
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2820 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Intellectual disability syndromic and non-syndromic v0.2819 ARSE Zornitza Stark Publications for gene: ARSE were set to
Intellectual disability syndromic and non-syndromic v0.2818 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2817 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Intellectual disability syndromic and non-syndromic v0.2817 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301713; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Marked gene: ARSE as ready
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Added comment: Comment when marking as ready: Note HGNC approved name is ARSL.
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.15 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Mendeliome v0.3692 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.55 FKTN Paul De Fazio gene: FKTN was added
gene: FKTN was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 17036286; 19015585
Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X MIM#611615
Review for gene: FKTN was set to AMBER
gene: FKTN was marked as current diagnostic
Added comment: Total 6 families (5 Japanese) with DCM and mild proximal muscle weakness.

PMID 17036286: 4 Japanese families with dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence. The patients were chet for a 3kb retrotransposon in the FKTN 3' UTR (all patients) and a missense variant (either Gln358Pro or Arg179Thr, both absent from gnomAD). The 3kb insertion is associated with a common founder haplotype and is found in 87% of alleles causing autosomal recessive Fukuyama congenital muscular dystrophy.

PMID 19015585: 1 patient with DCM, mild muscle involvement, and no brain involvement was chet for the 3kb insertion described above and Cys101Phe (absent from gnomad). The 3kb insertion was also found heterozygous in 2 other DCM patients and 3 controls.

DOI: 10.1055/s-0036-1583659 (no PMID, only abstract available) describes 2 sibs of a consanguineous Turkish family with homozygous exon 3 deletion, who had mild, non-progressive proximal muscle weakness and DCM.
Sources: Literature
Skeletal Dysplasia_Fetal v0.24 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Skeletal Dysplasia_Fetal v0.23 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3691 ARSE Zornitza Stark Marked gene: ARSE as ready
Mendeliome v0.3691 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Mendeliome v0.3691 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Mendeliome v0.3690 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Mendeliome v0.3690 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Marked gene: ARSE as ready
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3690 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Mendeliome v0.3690 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Mendeliome v0.3690 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270
Mendeliome v0.3689 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Mendeliome v0.3688 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3687 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Mendeliome v0.3687 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Mendeliome v0.3687 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from to Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Mendeliome v0.3686 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Mendeliome v0.3685 PSAT1 Zornitza Stark Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 TPP1 Michelle Torres reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 204500, Spinocerebellar ataxia, autosomal recessive 7 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 PSAT1 Elena Savva reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32077105; Phenotypes: ?Phosphoserine aminotransferase deficiency 610992, Neu-Laxova syndrome 2 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3684 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Mendeliome v0.3684 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Mendeliome v0.3684 FBXO11 Zornitza Stark Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089
Mendeliome v0.3683 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to
Mendeliome v0.3682 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3681 FBXO11 Zornitza Stark reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.771 FBXO11 Zornitza Stark edited their review of gene: FBXO11: Changed publications: 30679813, 30057029, 29796876
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Marked gene: FBXO11 as ready
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Gene: fbxo11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2817 FBXO11 Zornitza Stark Phenotypes for gene: FBXO11 were changed from to Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089
Intellectual disability syndromic and non-syndromic v0.2816 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2815 FBXO11 Zornitza Stark Publications for gene: FBXO11 were set to
Intellectual disability syndromic and non-syndromic v0.2815 FBXO11 Zornitza Stark Mode of inheritance for gene: FBXO11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2814 FBXO11 Vivian WEI reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30679813, 30057029, 29796876; Phenotypes: Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.3681 FRMD7 Zornitza Stark Marked gene: FRMD7 as ready
Mendeliome v0.3681 FRMD7 Zornitza Stark Gene: frmd7 has been classified as Green List (High Evidence).
Mendeliome v0.3681 FRMD7 Zornitza Stark Phenotypes for gene: FRMD7 were changed from to Nystagmus 1, congenital, X-linked 310700; Nystagmus, infantile periodic alternating, X-linked 310700
Mendeliome v0.3680 FRMD7 Zornitza Stark Publications for gene: FRMD7 were set to
Mendeliome v0.3679 FRMD7 Zornitza Stark Mode of inheritance for gene: FRMD7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3678 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Mendeliome v0.3678 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Mendeliome v0.3678 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Mendeliome v0.3677 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Mendeliome v0.3676 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3675 FRMD7 Elena Savva reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19072571, 23406872; Phenotypes: Nystagmus 1, congenital, X-linked 310700, Nystagmus, infantile periodic alternating, X-linked 310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.3675 AIFM1 Elena Savva reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3675 PIGQ Zornitza Stark Deleted their comment
Mendeliome v0.3675 PIGQ Zornitza Stark edited their review of gene: PIGQ: Added comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).

Johnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362).

Affected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.

PIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis.

More than 10 variants have been reported to date (missense / pLoF).; Changed phenotypes: Epileptic encephalopathy, early infantile, 77, MIM# 618548
Mendeliome v0.3675 PIGQ Zornitza Stark Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Genetic Epilepsy v0.771 PIGQ Zornitza Stark Publications for gene: PIGQ were set to 25558065; 24463883; 31148362
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Marked gene: PIGQ as ready
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Classified gene: PIGQ as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2814 PIGQ Zornitza Stark Gene: pigq has been classified as Green List (High Evidence).
Mendeliome v0.3674 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3674 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3673 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979; 28375157
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Polycystic liver disease v0.23 SEC61B Zornitza Stark edited their review of gene: SEC61B: Changed publications: 28862642, 30652979, 28375157
Polycystic liver disease v0.23 SEC61B Zornitza Stark changed review comment from: Sources: Expert list; to: Two unrelated individuals reported.Sources: Expert list
Polycystic liver disease v0.23 SEC61B Zornitza Stark Publications for gene: SEC61B were set to 28862642; 30652979
Polycystic liver disease v0.22 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.22 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Polycystic liver disease v0.22 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.21 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.20 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.20 ALG9 Zornitza Stark Classified gene: ALG9 as Amber List (moderate evidence)
Polycystic liver disease v0.20 ALG9 Zornitza Stark Gene: alg9 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.19 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG9 were set to 31395617; 30652979
Phenotypes for gene: ALG9 were set to Polycystic liver and kidney disease
Review for gene: ALG9 was set to AMBER
Added comment: Sources: Expert list
Polycystic liver disease v0.18 SEC63 Zornitza Stark Marked gene: SEC63 as ready
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.18 SEC63 Zornitza Stark Classified gene: SEC63 as Green List (high evidence)
Polycystic liver disease v0.18 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease v0.17 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
Review for gene: SEC63 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Marked gene: PRKCSH as ready
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Classified gene: PRKCSH as Green List (high evidence)
Polycystic liver disease v0.16 PRKCSH Zornitza Stark Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease v0.15 PRKCSH Zornitza Stark gene: PRKCSH was added
gene: PRKCSH was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Review for gene: PRKCSH was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Classified gene: PKHD1 as Green List (high evidence)
Polycystic liver disease v0.14 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.13 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Review for gene: PKHD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.12 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.12 PKD2 Zornitza Stark Classified gene: PKD2 as Green List (high evidence)
Polycystic liver disease v0.12 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease v0.11 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 29321346
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Review for gene: PKD2 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.10 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.10 PKD1 Zornitza Stark Classified gene: PKD1 as Green List (high evidence)
Polycystic liver disease v0.10 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease v0.9 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD1 were set to 8554072; 3178424; 9211343
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Review for gene: PKD1 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.8 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.8 LRP5 Zornitza Stark Classified gene: LRP5 as Green List (high evidence)
Polycystic liver disease v0.8 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease v0.7 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP5 were set to 25920554
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Review for gene: LRP5 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.6 GANAB Zornitza Stark Marked gene: GANAB as ready
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.6 GANAB Zornitza Stark Classified gene: GANAB as Green List (high evidence)
Polycystic liver disease v0.6 GANAB Zornitza Stark Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease v0.5 GANAB Zornitza Stark gene: GANAB was added
gene: GANAB was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GANAB were set to 29243290; 27259053; 28862642
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Review for gene: GANAB was set to GREEN
Added comment: Multiple liver cysts are a feature of this condition.
Sources: Expert list
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Marked gene: DNAJB11 as ready
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Classified gene: DNAJB11 as Green List (high evidence)
Polycystic liver disease v0.4 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease v0.3 DNAJB11 Zornitza Stark gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Review for gene: DNAJB11 was set to GREEN
Added comment: Sources: Expert list
Polycystic liver disease v0.2 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.2 ALG8 Zornitza Stark Classified gene: ALG8 as Green List (high evidence)
Polycystic liver disease v0.2 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease v0.1 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Polycystic liver disease. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG8 were set to 28375157; 15235028
Phenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Review for gene: ALG8 was set to GREEN
gene: ALG8 was marked as current diagnostic
Added comment: Sources: Expert list
Polycystic liver disease v0.0 Zornitza Stark Added Panel Polycystic liver disease
Set panel types to: Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Hereditary Spastic Paraplegia v0.114 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia v0.113 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: Please note some of the dominant variants initially reported now have high population frequency in gnomad.; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3672 CHI3L1 Zornitza Stark Marked gene: CHI3L1 as ready
Mendeliome v0.3672 CHI3L1 Zornitza Stark Gene: chi3l1 has been classified as Red List (Low Evidence).
Mendeliome v0.3672 CHI3L1 Zornitza Stark Phenotypes for gene: CHI3L1 were changed from to {Asthma-related traits, susceptibility to, 7} 611960; {Schizophrenia, susceptibility to} 181500
Mendeliome v0.3671 CHI3L1 Zornitza Stark Classified gene: CHI3L1 as Red List (low evidence)
Mendeliome v0.3671 CHI3L1 Zornitza Stark Gene: chi3l1 has been classified as Red List (Low Evidence).
Mendeliome v0.3670 CHI3L1 Zornitza Stark reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma-related traits, susceptibility to, 7} 611960, {Schizophrenia, susceptibility to} 181500; Mode of inheritance: None
Mendeliome v0.3670 CHI3L1 Chloe Stutterd reviewed gene: CHI3L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3670 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3670 C3orf52 Zornitza Stark Classified gene: C3orf52 as Amber List (moderate evidence)
Mendeliome v0.3670 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3669 C3orf52 Zornitza Stark gene: C3orf52 was added
gene: C3orf52 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
Added comment: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Hair disorders v0.36 C3orf52 Zornitza Stark Marked gene: C3orf52 as ready
Hair disorders v0.36 C3orf52 Zornitza Stark Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3668 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mendeliome v0.3668 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mendeliome v0.3668 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Genetic Epilepsy v0.770 PIGQ Konstantinos Varvagiannis reviewed gene: PIGQ: Rating: ; Mode of pathogenicity: None; Publications: 32588908, 24463883, 25558065, 31148362; Phenotypes: Epileptic encephalopathy, early infantile, 77 (MIM #618548); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2813 PIGQ Konstantinos Varvagiannis gene: PIGQ was added
gene: PIGQ was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 32588908; 24463883; 25558065; 31148362
Phenotypes for gene: PIGQ were set to Epileptic encephalopathy, early infantile, 77 (MIM #618548)
Penetrance for gene: PIGQ were set to Complete
Review for gene: PIGQ was set to GREEN
Added comment: Homozygous or compound heterozygous mutations in PIGQ cause Epileptic encephalopathy, early infantile, 77 (MIM #618548).

Johnstone et al (2020 - PMID: 32588908) describe the phenotype of 7 children (from 6 families) with biallelic PIGQ pathogenic variants. The authors also review the phenotype of 3 subjects previously reported in the literature (by Martin et al, Alazami et al, Starr et al - respective PMIDs: 24463883, 25558065, 31148362).

Affected individuals displayed severe to profound global DD/ID and seizures with onset in the first year of life. There were variable other features incl. - among others - genitourinary, cardiac, skeletal, ophthalmological anomalies, gastrointestinal issues. Within the cohort there was significant morbidity/mortality.

PIGQ encodes phosphatidylinositol glycan anchor biosynthesis class Q protein, playing a role (early) in the biosynthesis of the GPI-anchor. Several genes in the GPI biosynthesis pathway cause multi-system disease with DD/ID and seizures. Flow cytometry has been used in individuals with PIGQ-related disorder. Serum ALP was elevated in some (4) although - as the authors comment - elevations are more typical in disorders affecting later steps of GPI biosynthesis.

More than 10 variants have been reported to date (missense / pLoF).

Overall PIGQ can be considered for green rating in both ID and epilepsy gene panels.
Sources: Literature
Hair disorders v0.36 C3orf52 Chirag Patel changed review comment from: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature; to: 2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Hair disorders v0.36 C3orf52 Chirag Patel Classified gene: C3orf52 as Amber List (moderate evidence)
Hair disorders v0.36 C3orf52 Chirag Patel Gene: c3orf52 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.35 C3orf52 Chirag Patel gene: C3orf52 was added
gene: C3orf52 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to PMID: 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
gene: C3orf52 was marked as current diagnostic
Added comment: 2 families with 4 individuals with localized hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis.
Sources: Literature
Ciliopathies v0.198 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3667 DLG5 Zornitza Stark Marked gene: DLG5 as ready
Mendeliome v0.3667 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3667 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Mendeliome v0.3667 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Mendeliome v0.3666 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature
Ciliopathies v0.198 DLG5 Zornitza Stark Classified gene: DLG5 as Green List (high evidence)
Ciliopathies v0.198 DLG5 Zornitza Stark Gene: dlg5 has been classified as Green List (High Evidence).
Ciliopathies v0.197 DLG5 Zornitza Stark gene: DLG5 was added
gene: DLG5 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Review for gene: DLG5 was set to GREEN
Added comment: Four unrelated families reported, supportive Xenopus animal model data.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Marked gene: MCM8 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Gene: mcm8 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.31 MCM8 Zornitza Stark Publications for gene: MCM8 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.30 MCM8 Zornitza Stark Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM# 612885
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Genetic Epilepsy v0.770 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Marked gene: NCKAP1L as ready
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence)
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.59 NCKAP1L Zornitza Stark gene: NCKAP1L was added
gene: NCKAP1L was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation
Review for gene: NCKAP1L was set to GREEN
Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed.
Sources: Literature
Lymphoedema v0.4 FBXL7 Zornitza Stark Marked gene: FBXL7 as ready
Lymphoedema v0.4 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Lymphoedema v0.4 FBXL7 Zornitza Stark gene: FBXL7 was added
gene: FBXL7 was added to Lymphoedema_syndromic. Sources: Literature
Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL7 were set to 31633297
Phenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphedema
Review for gene: FBXL7 was set to RED
Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Marked gene: HPDL as ready
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2813 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Intellectual disability syndromic and non-syndromic v0.2812 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2812 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.129 HPDL Zornitza Stark Marked gene: HPDL as ready
Regression v0.129 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.129 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Regression v0.128 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Regression v0.128 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.457 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Mitochondrial disease v0.456 HPDL Zornitza Stark Marked gene: HPDL as ready
Mitochondrial disease v0.456 HPDL Zornitza Stark Added comment: Comment when marking as ready: Leigh-like phenotype, HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism.
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.456 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mendeliome v0.3665 AHR Zornitza Stark Marked gene: AHR as ready
Mendeliome v0.3665 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3665 AHR Zornitza Stark Classified gene: AHR as Amber List (moderate evidence)
Mendeliome v0.3665 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3664 M1AP Zornitza Stark Marked gene: M1AP as ready
Mendeliome v0.3664 M1AP Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence).
Mendeliome v0.3664 M1AP Zornitza Stark Classified gene: M1AP as Green List (high evidence)
Mendeliome v0.3664 M1AP Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence).
Mendeliome v0.3663 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability
Mendeliome v0.3662 RELN Zornitza Stark edited their review of gene: RELN: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3662 RELN Zornitza Stark changed review comment from: Well established gene-disease association with bi-allelic variants and lissencephaly.; to: Well established gene-disease association with bi-allelic variants and lissencephaly. Mono-allelic variants linked to epilepsy.
Mendeliome v0.3662 RELN Zornitza Stark edited their review of gene: RELN: Changed phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320, {Epilepsy, familial temporal lobe, 7} 616436
Mendeliome v0.3662 RELN Zornitza Stark Marked gene: RELN as ready
Mendeliome v0.3662 RELN Zornitza Stark Gene: reln has been classified as Green List (High Evidence).
Mendeliome v0.3662 RELN Zornitza Stark Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; {Epilepsy, familial temporal lobe, 7}, MIM# 616436; ankylosing spondylitis
Mendeliome v0.3661 RELN Zornitza Stark Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ankylosing spondylitis
Mendeliome v0.3660 RELN Zornitza Stark Publications for gene: RELN were set to
Mendeliome v0.3659 RELN Zornitza Stark Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3658 RELN Zornitza Stark reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Marked gene: FANCB as ready
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.21 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B (MIM#300514)
Hydrocephalus_Ventriculomegaly v0.20 FANCB Zornitza Stark Publications for gene: FANCB were set to
Hydrocephalus_Ventriculomegaly v0.19 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.113 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Hydrops fetalis v0.113 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Hydrops fetalis v0.113 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Single family reported with several affected pregnancies.
Sources: Literature
Mendeliome v0.3658 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Mendeliome v0.3658 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Mendeliome v0.3658 CALCRL Zornitza Stark Classified gene: CALCRL as Red List (low evidence)
Mendeliome v0.3658 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.34 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Arrhythmogenic Cardiomyopathy v0.33 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.32 DSG2 Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3657 CALCRL Hazel Phillimore gene: CALCRL was added
gene: CALCRL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to PMID: 30115739
Phenotypes for gene: CALCRL were set to ?Lymphatic malformation 8 (MIM# 618773); hydrops fetalis
Review for gene: CALCRL was set to RED
Added comment: Homozygous in-frame deletion (Val205del) in the CALCRL gene (Val205del) in a 22 week-old fetus with hydrops details due to lymphatic malformation. Consanguineous parents.
Heterozygosity of the variant was also suggested to be associated with spontaneous miscarriage and subfertility. Consanguineous family with 8 total miscarriages from 3 carrier women, and 2 of these were confirmed to be due to hydrops fetalis.
Note: possible association of a variant in ASAH1 gene that is associated with Farber lipogranulomatosis which can sometimes present with antenatal hydrops fetalis. (Homozygosity in one of the fetuses, fetus and heterozygosity in some of the family members).
In vitro biochemical assays indicated that the variant causes misfolding of the protein and reduced association with its chaperone, RAMP2, and reduced translocation to the plasma membrane. (PMID: 30115739; Mackie, DI. et al., 2018).
Sources: Literature
Arrhythmogenic Cardiomyopathy v0.31 CHD2 Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported.
Sources: Expert list; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.31 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Arrhythmogenic Cardiomyopathy v0.30 PKP2 Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.29 PKP2 Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.29 TGFB3 Zornitza Stark changed review comment from: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Gene is associated with LDS.; to: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Rated as LIMITED by ClinGen. Gene is associated with LDS.
Arrhythmogenic Cardiomyopathy v0.29 JUP Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.29 RYR2 Zornitza Stark Publications for gene: RYR2 were set to 11159936; 25041964
Arrhythmogenic Cardiomyopathy v0.28 RYR2 Zornitza Stark Tag refuted tag was added to gene: RYR2.
Arrhythmogenic Cardiomyopathy v0.28 RYR2 Zornitza Stark Classified gene: RYR2 as Red List (low evidence)
Arrhythmogenic Cardiomyopathy v0.28 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.27 RYR2 Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.; to: Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).
Arrhythmogenic Cardiomyopathy v0.27 RYR2 Zornitza Stark edited their review of gene: RYR2: Changed rating: RED; Changed publications: 11159936, 25041964, 29543670
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Marked gene: LMNA as ready
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.27 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.26 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 22199124; 25837155; 26620845
Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy
Review for gene: LMNA was set to AMBER
Added comment: Association between LMNA and ARVC has been rated as LIMITED by ClinGen: small number of families reported where only some of the individuals with the variants had convincing ARVC phenotype. Rated Amber on this panel more due to phenotypic overlap with DCM and arrhythmias arising in this context.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Marked gene: DES as ready
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Classified gene: DES as Green List (high evidence)
Arrhythmogenic Cardiomyopathy v0.25 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.24 DES Zornitza Stark gene: DES was added
gene: DES was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DES were set to 19879535; 20423733; 24200904; 22395865; 29212896; 23168288; 20829228
Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy
Review for gene: DES was set to GREEN
Added comment: Assessed as MODERATE by ClinGen for ARVC, note phenotypes overlap DCM and skeletal myopathy. Multiple families reported, supportive in vitro studies.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.23 Zornitza Stark Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Cardiomyopathy
Hydrocephalus_Ventriculomegaly v0.18 FANCB Crystle Lee reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21910217; Phenotypes: Fanconi anemia, complementation group B (MIM#300514); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3657 RELN Chern Lim reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: None; Publications: 32001840; Phenotypes: ankylosing spondylitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic Cardiomyopathy v0.22 RYR2 Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.22 RYR2 Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.21 RYR2 Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC.; to: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.
Arrhythmogenic Cardiomyopathy v0.21 RYR2 Zornitza Stark edited their review of gene: RYR2: Changed rating: AMBER
Mendeliome v0.3657 MORC2 Dean Phelan reviewed gene: MORC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32693025; Phenotypes: Spinal muscular atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Marked gene: CSRP3 as ready
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Phenotypes for gene: CSRP3 were changed from to Cardiomyopathy, dilated, 1M MIM#607482
Mendeliome v0.3657 M1AP Ee Ming Wong gene: M1AP was added
gene: M1AP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: M1AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: M1AP were set to PMID: 32673564
Phenotypes for gene: M1AP were set to non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility
Review for gene: M1AP was set to GREEN
gene: M1AP was marked as current diagnostic
Added comment: - One frameshift variant identified in 9 infertile men either in homozygous or compound heterozygous form
- One missense variant segregated with infertility in five men from a consanguineous Turkish family
Sources: Literature
Dilated Cardiomyopathy v0.54 CSRP3 Zornitza Stark Publications for gene: CSRP3 were set to
Dilated Cardiomyopathy v0.53 CSRP3 Zornitza Stark Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.52 CSRP3 Zornitza Stark Classified gene: CSRP3 as Red List (low evidence)
Dilated Cardiomyopathy v0.52 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.51 CSRP3 Zornitza Stark Tag disputed tag was added to gene: CSRP3.
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Marked gene: DSC2 as ready
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Added comment: Comment when marking as ready: No concrete evidence for association with DCM.
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Classified gene: DSC2 as Red List (low evidence)
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence).
Mendeliome v0.3657 AHR Chern Lim gene: AHR was added
gene: AHR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 29726989; 31896775
Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85 MIM#618345; foveal hypoplasia and infantile nystagmus
Review for gene: AHR was set to AMBER
Added comment: - One reported homozygous splice variant in a consanguineous family & a mouse model (PMID: 29726989)

- A homozygous nonsense variant in 1 consanguineous family with foveal hypoplasia and infantile nystagmus (PMID:31896775).
Sources: Literature
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Marked gene: DOLK as ready
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Classified gene: DOLK as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, MIM#615184
Dilated Cardiomyopathy v0.48 CRYAB Zornitza Stark Publications for gene: CRYAB were set to
Dilated Cardiomyopathy v0.47 CRYAB Zornitza Stark Mode of inheritance for gene: CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.46 CRYAB Zornitza Stark Classified gene: CRYAB as Red List (low evidence)
Dilated Cardiomyopathy v0.46 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Classified gene: CDH2 as Red List (low evidence)
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Marked gene: ACTN2 as ready
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Classified gene: ACTN2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.59 AHR Zornitza Stark Marked gene: AHR as ready
Retinitis pigmentosa v0.59 AHR Zornitza Stark Added comment: Comment when marking as ready: Not sure if the second reported family really has RP phenotype.
Retinitis pigmentosa v0.59 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3657 CRY1 Zornitza Stark Marked gene: CRY1 as ready
Mendeliome v0.3657 CRY1 Zornitza Stark Gene: cry1 has been classified as Green List (High Evidence).
Mendeliome v0.3657 CRY1 Zornitza Stark Classified gene: CRY1 as Green List (high evidence)
Mendeliome v0.3657 CRY1 Zornitza Stark Gene: cry1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.455 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3656 FBXL7 Zornitza Stark Marked gene: FBXL7 as ready
Mendeliome v0.3656 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Mendeliome v0.3656 FBXL7 Zornitza Stark Phenotypes for gene: FBXL7 were changed from Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; protein‐losing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. to Hennekam lymphangiectasia-lymphedema syndrome
Intellectual disability syndromic and non-syndromic v0.2811 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3655 FBXL7 Zornitza Stark Classified gene: FBXL7 as Red List (low evidence)
Mendeliome v0.3655 FBXL7 Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence).
Regression v0.127 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Regression. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3654 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Retinitis pigmentosa v0.59 AHR Chern Lim reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31896775; Phenotypes: foveal hypoplasia and infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3653 CRY1 Ee Ming Wong gene: CRY1 was added
gene: CRY1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRY1 were set to PMID: 28388406; PMID: 32538895
Phenotypes for gene: CRY1 were set to Attention deficit/hyperactivity disorder (ADHD); Delayed sleep phase disorder (DSPD),
Penetrance for gene: CRY1 were set to Incomplete
Review for gene: CRY1 was set to GREEN
gene: CRY1 was marked as current diagnostic
Added comment: - Splice variants identified in 7 families with ADHD and DSPD
- Gain of function suggested for CRY1Δ11 (PMID: 28388406)
- Loss of function suggested for CRY1Δ6 (HEK293T cells transfected with a Per1::Luc reporter plasmid showed reduced repressor activity compared to WT and CRY1Δ11)
Sources: Literature
Mendeliome v0.3653 HPDL Zornitza Stark Marked gene: HPDL as ready
Mendeliome v0.3653 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2811 PIGP Seb Lunke Publications for gene: PIGP were set to 28334793; 31139695
Mendeliome v0.3653 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Neurological disorder to Progressive neurological disorder
Intellectual disability syndromic and non-syndromic v0.2810 PIGP Seb Lunke Classified gene: PIGP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2810 PIGP Seb Lunke Gene: pigp has been classified as Green List (High Evidence).
Mendeliome v0.3652 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Mendeliome v0.3652 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2809 PIGP Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3651 NCKAP1L Zornitza Stark Marked gene: NCKAP1L as ready
Mendeliome v0.3651 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Mendeliome v0.3651 PIGP Seb Lunke Publications for gene: PIGP were set to 31139695
Mendeliome v0.3651 NCKAP1L Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence)
Mendeliome v0.3651 NCKAP1L Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence).
Mendeliome v0.3650 PIGP Seb Lunke Classified gene: PIGP as Green List (high evidence)
Mendeliome v0.3650 PIGP Seb Lunke Gene: pigp has been classified as Green List (High Evidence).
Mendeliome v0.3649 MYLPF Zornitza Stark Marked gene: MYLPF as ready
Mendeliome v0.3649 MYLPF Zornitza Stark Added comment: Comment when marking as ready: Two variants each for the bi-allelic and the mono-allelic gene-disease associations.
Mendeliome v0.3649 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3649 PIGP Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3649 MYLPF Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence)
Mendeliome v0.3649 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3648 FBXL7 Hazel Phillimore changed review comment from: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature; to: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Arthrogryposis v0.199 MYLPF Zornitza Stark Marked gene: MYLPF as ready
Arthrogryposis v0.199 MYLPF Zornitza Stark Added comment: Comment when marking as ready: Two variants each for bi-allelic and mono-allelic gene-disease association.
Arthrogryposis v0.199 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.199 MYLPF Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence)
Arthrogryposis v0.199 MYLPF Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.198 MYLPF Zornitza Stark Classified gene: MYLPF as Green List (high evidence)
Arthrogryposis v0.198 MYLPF Zornitza Stark Gene: mylpf has been classified as Green List (High Evidence).
Genetic Epilepsy v0.769 SCAF4 Crystle Lee gene: SCAF4 was added
gene: SCAF4 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities
Review for gene: SCAF4 was set to GREEN
Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2809 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Mendeliome v0.3648 SCAF4 Zornitza Stark Marked gene: SCAF4 as ready
Mendeliome v0.3648 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Mendeliome v0.3648 SCAF4 Zornitza Stark Classified gene: SCAF4 as Green List (high evidence)
Mendeliome v0.3648 SCAF4 Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence).
Craniosynostosis v0.133 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Craniosynostosis v0.133 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.133 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Craniosynostosis v0.133 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Craniosynostosis v0.132 PJA1 Zornitza Stark gene: PJA1 was added
gene: PJA1 was added to Craniosynostosis. Sources: Literature
founder tags were added to gene: PJA1.
Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PJA1 were set to 32530565
Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly
Review for gene: PJA1 was set to AMBER
Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect.
Sources: Literature
Mendeliome v0.3647 FBXL7 Hazel Phillimore gene: FBXL7 was added
gene: FBXL7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL7 were set to PMID: 31633297
Phenotypes for gene: FBXL7 were set to Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; protein‐losing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Review for gene: FBXL7 was set to AMBER
Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Sources: Literature
Mendeliome v0.3647 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Mendeliome v0.3647 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3647 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mendeliome v0.3647 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Mendeliome v0.3647 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Tag founder tag was added to gene: PJA1.
Mendeliome v0.3646 PJA1 Zornitza Stark gene: PJA1 was added
gene: PJA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PJA1 were set to 32530565
Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly
Review for gene: PJA1 was set to AMBER
Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Marked gene: PJA1 as ready
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2808 PJA1 Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2807 PJA1 Zornitza Stark gene: PJA1 was added
gene: PJA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PJA1 were set to 32530565
Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly
Review for gene: PJA1 was set to AMBER
Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect.
Sources: Literature
Mendeliome v0.3645 MYLPF Crystle Lee gene: MYLPF was added
gene: MYLPF was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to Distal arthrogryoposis
Review for gene: MYLPF was set to GREEN
Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model.
Sources: Expert Review
Mendeliome v0.3645 NCKAP1L Michelle Torres gene: NCKAP1L was added
gene: NCKAP1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency
Review for gene: NCKAP1L was set to GREEN
Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional of the 4 missense reported were performed.
Sources: Literature
Genetic Epilepsy v0.769 PIGP Seb Lunke Publications for gene: PIGP were set to 28334793; 31139695
Arthrogryposis v0.197 MYLPF Crystle Lee gene: MYLPF was added
gene: MYLPF was added to Arthrogryposis. Sources: Expert Review
Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to Distal arthrogryoposis
Review for gene: MYLPF was set to GREEN
Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model.
Sources: Expert Review
Genetic Epilepsy v0.768 PIGP Seb Lunke Classified gene: PIGP as Green List (high evidence)
Genetic Epilepsy v0.768 PIGP Seb Lunke Gene: pigp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.767 PIGP Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3645 MCF2 Zornitza Stark Marked gene: MCF2 as ready
Mendeliome v0.3645 MCF2 Zornitza Stark Gene: mcf2 has been classified as Red List (Low Evidence).
Mendeliome v0.3645 MCF2 Zornitza Stark gene: MCF2 was added
gene: MCF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MCF2 were set to 31846234
Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria
Review for gene: MCF2 was set to RED
Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: Literature
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark Marked gene: MCF2 as ready
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark Gene: mcf2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.90 MCF2 Zornitza Stark gene: MCF2 was added
gene: MCF2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MCF2 were set to 31846234
Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria
Review for gene: MCF2 was set to RED
Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2806 SCAF4 Crystle Lee gene: SCAF4 was added
gene: SCAF4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities
Review for gene: SCAF4 was set to GREEN
Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.
Sources: Expert Review
Mendeliome v0.3644 SCAF4 Crystle Lee gene: SCAF4 was added
gene: SCAF4 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities
Review for gene: SCAF4 was set to GREEN
Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.
Sources: Expert Review
Dilated Cardiomyopathy v0.43 DSC2 Paul De Fazio gene: DSC2 was added
gene: DSC2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 21859740
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476
Review for gene: DSC2 was set to AMBER
gene: DSC2 was marked as current diagnostic
Added comment: ClinGen "Definitive" for ARVC. I can find no specific association with DCM, but this gene is green on the PanelApp GEL DCM panel for phenotypic overlap with DCM.

One VUS in DSC2 was identified in a patient who had undergone transplant for DCM (PMID: 21859740) (24 hets in gnomAD).
Sources: Literature
Dilated Cardiomyopathy v0.43 DOLK Paul De Fazio gene: DOLK was added
gene: DOLK was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 31741824; 28816422; 24144945; 22242004
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im MIM#610768
Review for gene: DOLK was set to AMBER
gene: DOLK was marked as current diagnostic
Added comment: Not curated by ClinGen.

This is a CDG gene. Patients may present with DCM (among other phenotypes).

PMID 22242004 describes 11 young (5-13) patients with "predominantly nonsyndromic presentation of DCM".
Sources: Literature
Dilated Cardiomyopathy v0.43 CSRP3 Paul De Fazio reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: None; Publications: 12507422, 14567970, 19412328; Phenotypes: ?Cardiomyopathy, dilated, 1M MIM#607482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.43 CRYAB Paul De Fazio changed review comment from: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger).

3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM.

PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort)
PMID 16793013: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN.
PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM.
PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study)

Amber in PanelApp GEL

I don't think there's sufficient evidence for an association with DCM so I am marking this red.; to: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger).

3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM.

PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) (253 hets in gnomAD)
PMID 16483541: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN (18 hets in gnomad).
PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM.
PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study)

Amber in PanelApp GEL

I don't think there's sufficient evidence for an association with DCM so I am marking this red.
Dilated Cardiomyopathy v0.43 CRYAB Paul De Fazio reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: 16793013, 16483541, 23590293, 29253866; Phenotypes: Cardiomyopathy, dilated, 1II MIM#615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.43 CDH2 Paul De Fazio changed review comment from: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature; to: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of DCM in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature
Dilated Cardiomyopathy v0.43 CDH2 Paul De Fazio gene: CDH2 was added
gene: CDH2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 28280076; 15662031
Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920
Review for gene: CDH2 was set to RED
gene: CDH2 was marked as current diagnostic
Added comment: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature
Dilated Cardiomyopathy v0.43 ACTN2 Paul De Fazio gene: ACTN2 was added
gene: ACTN2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTN2 were set to 20474083; 25224718; 22253474; 14567970:
Phenotypes for gene: ACTN2 were set to Intrinsic cardiomyopathy
Review for gene: ACTN2 was set to AMBER
gene: ACTN2 was marked as current diagnostic
Added comment: Moderate evidence for "intrinsic cardiomyopathy" according to ClinGen. Associated with both HCM and DCM (same MIM# for both).

According to ClinGen; 12 unique heterozygous variants have been identified in the context of diverse cardiac phenotypes (HCM, DCM, LVNC, ventricular fibrillation).

In DCM:
PMID 20474083: 3 "variants of likely clinical significance" and 1 VUS, cohort study
PMID 14567970: missense variant in a child who died of DCM
PMID 25224718: 2 families with the same missense variant (same haplotype)

Rescues a DCM phenotype in Zebrafish (PMID: 22253474).

Green on PanelApp GEL but did not achieve consensus Green rating. Amber on PanelApp Aus HCM panel.
Sources: Literature
Hereditary Neuropathy v0.77 NARS Zornitza Stark Marked gene: NARS as ready
Hereditary Neuropathy v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.77 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Hereditary Neuropathy v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.76 NARS Zornitza Stark gene: NARS was added
gene: NARS was added to Hereditary Neuropathy - complex. Sources: Literature
new gene name tags were added to gene: NARS.
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).
Sources: Literature
Mendeliome v0.3644 NARS Zornitza Stark Marked gene: NARS as ready
Mendeliome v0.3644 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Mendeliome v0.3644 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Mendeliome v0.3644 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Mendeliome v0.3643 NARS Zornitza Stark gene: NARS was added
gene: NARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).
Sources: Literature
Genetic Epilepsy v0.767 NARS Zornitza Stark Marked gene: NARS as ready
Genetic Epilepsy v0.767 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.767 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Genetic Epilepsy v0.767 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.766 NARS Zornitza Stark Tag new gene name tag was added to gene: NARS.
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Marked gene: NARS as ready
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2806 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2805 NARS Zornitza Stark Tag new gene name tag was added to gene: NARS.
Intellectual disability syndromic and non-syndromic v0.2805 NARS Konstantinos Varvagiannis changed review comment from: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature; to: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Genetic Epilepsy v0.766 NARS Konstantinos Varvagiannis changed review comment from: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature; to: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Genetic Epilepsy v0.766 NARS Konstantinos Varvagiannis gene: NARS was added
gene: NARS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Penetrance for gene: NARS were set to Complete
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2805 NARS Konstantinos Varvagiannis gene: NARS was added
gene: NARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Penetrance for gene: NARS were set to Complete
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1]

Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families.

Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features.

NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported.

Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all].

The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).

As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy.
Sources: Literature
Mendeliome v0.3642 ZNF407 Zornitza Stark Marked gene: ZNF407 as ready
Mendeliome v0.3642 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3642 ZNF407 Zornitza Stark Phenotypes for gene: ZNF407 were changed from to Global developmental delay; Intellectual disability
Mendeliome v0.3641 ZNF407 Zornitza Stark Publications for gene: ZNF407 were set to
Mendeliome v0.3640 ZNF407 Zornitza Stark Mode of inheritance for gene: ZNF407 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3639 ZNF407 Zornitza Stark Classified gene: ZNF407 as Amber List (moderate evidence)
Mendeliome v0.3639 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3638 ZNF407 Zornitza Stark reviewed gene: ZNF407: Rating: AMBER; Mode of pathogenicity: None; Publications: 24907849, 32737394, 23195952; Phenotypes: Global developmental delay, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Marked gene: ZNF407 as ready
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Added comment: Comment when marking as ready: Evidence both for mono allelic and bi-allelic disease, though neither sufficient for Green rating at present.
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Classified gene: ZNF407 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2805 ZNF407 Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2804 ZNF407 Konstantinos Varvagiannis gene: ZNF407 was added
gene: ZNF407 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ZNF407 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ZNF407 were set to 24907849; 32737394; 23195952
Phenotypes for gene: ZNF407 were set to Global developmental delay; Intellectual disability
Penetrance for gene: ZNF407 were set to unknown
Review for gene: ZNF407 was set to AMBER
Added comment: You may consider inclusion of this gene probably with amber rating (or green if the evidence for biallelic variants is considered sufficient).

Biallelic variants:

- Kambouris et al. (2014 - PMID: 24907849) described 2 brothers with severe DD and ID, born to first cousin parents. Homozygosity mapping, following other non-diagnostic investigations (incl. aCGH), revealed 4 major homozygosity intervals. Exome sequencing in one identified 5 variants within these intervals, ZNF407 (c.5054C>G, p.Ser1685Trp) being the best candidate, supported also by segregation studies. The authors commented that zinc finger proteins act as transcriptional regulators, with mutations in genes encoding for other zinc finger proteins interfering with normal brain development.

- Zahra et al. (2020 - PMID: 32737394) report on 7 affected individuals (from 3 families) homozygous or compound heterozygous for ZNF407 variants. Features included hypotonia, DD and ID (in all) and variable occurrence of short stature (6/6), microcephaly (in at least 5), behavioural, visual problems and deafness. Linkage analysis in the first family revealed a 4.4 Mb shared homozygosity region and exome (30x) revealed a 3-bp duplication, confirmed by Sanger sequencing and segregating with the disease (NM_001146189:c.2814_2816dup, p.Val939dup). Affected subjects from the 2 other families were each found to be homozygous (c.2405G>T) or compound heterozygous (c.2884C>G, c.3642G>C) for other variants. Segregation was compatible in all families. Other studies were not performed. The authors comment than only the 3-bp duplication fullfilled ACMG criteria for classification as LP, the other variants being all formally classified as VUS (also due to in silico predictions predicting a LB effect). In addition, while several features such as DD/ID and short stature appeared to be frequent among all patients reported, Zahra et all comment that there was partial clinical overlap with the sibs described by Kambouris et al (additional variants?).


Monoallelic disruption of ZNF407:

- Ren et al (2013 - PMID: 23195952) described an 8 y.o. boy with ID and ASD. The boy was found to harbor a de novo translocation between chromosomes 3 and 18 [46,XY,t(3;18)(p13;q22.3)]. Array CGH did not reveal any P/LP CNV. Delineation of the breakpoints (FISH, long-range PCR) revealed that the chr18 breakpoint disrupted intron 3 of ZNF407 (isoform 1) with the other breakpoint within a gene-free region of exon 3. There was a loss of 4-8 nt in chr18 and 2-6 in chr3. Sequencing of ZNF407 did not reveal additional variants. RNA isolation in blood followed by RT-PCR studied expression of all 3 ZNF407 isoforms (the intronic region being shared by isoforms 1 and 2). Expression of isoform 1 was shown to be significantly reduced compared to controls. Isoform 2 was undetectable (in blood) while isoform 3 expression was similar to controls. Sequencing of 105 additional patients with similar clinical presentation (ID & ASD) revealed 2 further individuals with de novo missense variants.

- Based on the discussion by Kambouris et al (PMID: 24907849 - cited literature not here reviewed) ZNF407 may be deleted in patients with congenital aural atresia due to deletion of a critical region of 18q22.3 (though TSHZ1 is responsible for this phenotype) or 18q- although such deletions span several other genes (cited PMID: 16639285). In one case the breakpoint was shown to be disrupting ZNF407 (cited PMID: 24092497).

- The denovo db and Decipher (research variant tab) list few individuals with de novo ZNF407 SNVs although these do not seem to allow conclusions.

https://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZNF407
https://decipher.sanger.ac.uk/search/ddd-research-variants/results?q=znf407
Sources: Literature
Glaucoma congenital v0.46 OCRL Zornitza Stark Marked gene: OCRL as ready
Glaucoma congenital v0.46 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Glaucoma congenital v0.46 OCRL Zornitza Stark Classified gene: OCRL as Green List (high evidence)
Glaucoma congenital v0.46 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Glaucoma congenital v0.45 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000
Review for gene: OCRL was set to GREEN
Added comment: Glaucoma present in ~50%, GeneReviews.
Sources: Expert list
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Glaucoma congenital v0.44 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.43 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, MIM# 182250
Review for gene: IFIH1 was set to GREEN
Added comment: Glaucoma is a feature of this condition.
Sources: Expert list
Mendeliome v0.3638 DDX58 Zornitza Stark Marked gene: DDX58 as ready
Mendeliome v0.3638 DDX58 Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence).
Mendeliome v0.3638 DDX58 Zornitza Stark Phenotypes for gene: DDX58 were changed from to Singleton-Merten syndrome 2, MIM# 616298
Mendeliome v0.3637 DDX58 Zornitza Stark Publications for gene: DDX58 were set to
Mendeliome v0.3636 DDX58 Zornitza Stark Mode of inheritance for gene: DDX58 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3635 DDX58 Zornitza Stark changed review comment from: Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies.; to: Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. At least 3 families reported.
Mendeliome v0.3635 DDX58 Zornitza Stark reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203; Phenotypes: Singleton-Merten syndrome 2, MIM# 616298; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.42 DDX58 Zornitza Stark Marked gene: DDX58 as ready
Glaucoma congenital v0.42 DDX58 Zornitza Stark Gene: ddx58 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.42 DDX58 Zornitza Stark Classified gene: DDX58 as Amber List (moderate evidence)
Glaucoma congenital v0.42 DDX58 Zornitza Stark Gene: ddx58 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.41 DDX58 Zornitza Stark gene: DDX58 was added
gene: DDX58 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX58 were set to 25620203
Phenotypes for gene: DDX58 were set to Singleton-Merten syndrome 2, MIM# 616298
Review for gene: DDX58 was set to AMBER
Added comment: At least two families reported where glaucoma was a feature of the presenting phenotype.
Sources: Expert list
Glaucoma congenital v0.40 TEK Zornitza Stark Phenotypes for gene: TEK were changed from to Glaucoma 3, primary congenital, E, MIM# 617272
Glaucoma congenital v0.39 TEK Zornitza Stark Publications for gene: TEK were set to
Glaucoma congenital v0.38 TEK Zornitza Stark Mode of inheritance for gene: TEK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.37 TEK Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27270174; Phenotypes: Glaucoma 3, primary congenital, E, MIM# 617272; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.37 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
Glaucoma congenital v0.37 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Glaucoma congenital v0.37 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420
Glaucoma congenital v0.36 SH3PXD2B Zornitza Stark Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.35 SH3PXD2B Zornitza Stark reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.35 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Glaucoma congenital v0.35 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Glaucoma congenital v0.35 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from to Charcot-Marie-Tooth disease, type 4B2, MIM# 604563
Glaucoma congenital v0.34 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Glaucoma congenital v0.33 SBF2 Zornitza Stark Mode of inheritance for gene: SBF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.32 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2, MIM# 604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Glaucoma congenital v0.32 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.31 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Review for gene: POMGNT1 was set to GREEN
Added comment: Glaucoma is part of the ocular phenotype.
Sources: Expert list
Glaucoma congenital v0.30 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Glaucoma congenital v0.30 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.30 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Glaucoma congenital v0.29 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.28 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.28 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Glaucoma congenital v0.28 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.28 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880
Glaucoma congenital v0.27 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.26 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.26 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Glaucoma congenital v0.26 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Glaucoma congenital v0.26 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229
Glaucoma congenital v0.25 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.24 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.24 MFRP Zornitza Stark Marked gene: MFRP as ready
Glaucoma congenital v0.24 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.24 MFRP Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040
Glaucoma congenital v0.23 MFRP Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.22 MFRP Zornitza Stark Classified gene: MFRP as Amber List (moderate evidence)
Glaucoma congenital v0.22 MFRP Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.21 MFRP Zornitza Stark reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Classified gene: FOXE3 as Amber List (moderate evidence)
Glaucoma congenital v0.21 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.20 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXE3 were set to 27218149
Phenotypes for gene: FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Review for gene: FOXE3 was set to AMBER
Added comment: Complex eye phenotype, glaucoma described in at least one family.
Sources: Expert list
Glaucoma congenital v0.19 FBN1 Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence)
Glaucoma congenital v0.19 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.18 FBN1 Zornitza Stark changed review comment from: Glaucoma is part of the phenotype.; to: Few families reported with WMS phenotype, limited reports of glaucoma.
Glaucoma congenital v0.18 FBN1 Zornitza Stark edited their review of gene: FBN1: Changed rating: AMBER
Glaucoma congenital v0.18 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Glaucoma congenital v0.18 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Glaucoma congenital v0.18 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Weill-Marchesani syndrome 2, dominant, MIM# 608328
Glaucoma congenital v0.17 FBN1 Zornitza Stark Publications for gene: FBN1 were set to
Glaucoma congenital v0.16 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.15 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 2, dominant, MIM# 608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.15 EP300 Zornitza Stark Marked gene: EP300 as ready
Glaucoma congenital v0.15 EP300 Zornitza Stark Gene: ep300 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.15 EP300 Zornitza Stark Phenotypes for gene: EP300 were changed from to Rubinstein-Taybi syndrome 2, MIM# 613684
Glaucoma congenital v0.14 EP300 Zornitza Stark Mode of inheritance for gene: EP300 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.13 EP300 Zornitza Stark Classified gene: EP300 as Amber List (moderate evidence)
Glaucoma congenital v0.13 EP300 Zornitza Stark Gene: ep300 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.12 EP300 Zornitza Stark reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.12 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Glaucoma congenital v0.12 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Glaucoma congenital v0.12 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, MIM# 180849
Glaucoma congenital v0.11 CREBBP Zornitza Stark Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.10 CREBBP Zornitza Stark reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence)
Glaucoma congenital v0.10 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Glaucoma congenital v0.9 CPAMD8 Zornitza Stark gene: CPAMD8 was added
gene: CPAMD8 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 29556725
Phenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM# 617319
Review for gene: CPAMD8 was set to GREEN
Added comment: Anterior segment dysgenesis, glaucoma specifically reported in 8 families.
Sources: Expert list
Glaucoma congenital v0.8 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Glaucoma congenital v0.8 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.8 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780
Glaucoma congenital v0.7 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.6 COL4A1 Zornitza Stark Classified gene: COL4A1 as Amber List (moderate evidence)
Glaucoma congenital v0.6 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence).
Glaucoma congenital v0.5 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Classified gene: ADAMTS17 as Green List (high evidence)
Glaucoma congenital v0.5 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Glaucoma congenital v0.4 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Review for gene: ADAMTS17 was set to GREEN
Added comment: Complex eye phenotype associated with this syndrome, including glaucoma.
Sources: Expert list
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Classified gene: ADAMTS10 as Green List (high evidence)
Glaucoma congenital v0.3 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Glaucoma congenital v0.2 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Glaucoma congenital. Sources: Expert list
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, MIM# 277600
Review for gene: ADAMTS10 was set to GREEN
Added comment: Well established gene-disease association with Weill-Marchesani syndrome, a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma (present in ~75%), and, occasionally, heart defects.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.21 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Arrhythmogenic Cardiomyopathy v0.21 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.21 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Arrhythmogenic Cardiomyopathy v0.20 TGFB3 Zornitza Stark Publications for gene: TGFB3 were set to
Arrhythmogenic Cardiomyopathy v0.19 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.18 TGFB3 Zornitza Stark Classified gene: TGFB3 as Red List (low evidence)
Arrhythmogenic Cardiomyopathy v0.18 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence).
Arrhythmogenic Cardiomyopathy v0.17 TGFB3 Zornitza Stark Tag 5'UTR tag was added to gene: TGFB3.
Arrhythmogenic Cardiomyopathy v0.17 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: 15639475; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, MIM# 107970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.17 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Arrhythmogenic Cardiomyopathy v0.17 RYR2 Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence).
Arrhythmogenic Cardiomyopathy v0.17 RYR2 Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
Arrhythmogenic Cardiomyopathy v0.16 RYR2 Zornitza Stark Publications for gene: RYR2 were set to
Arrhythmogenic Cardiomyopathy v0.15 RYR2 Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.14 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159936, 25041964; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Marked gene: PLN as ready
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Tag founder tag was added to gene: PLN.
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Classified gene: PLN as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.14 PLN Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.13 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLN were set to 22820313
Phenotypes for gene: PLN were set to Arrhythmogenic right ventricular cardiomyopathy
Review for gene: PLN was set to AMBER
Added comment: One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Marked gene: FLNC as ready
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Classified gene: FLNC as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.12 FLNC Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.11 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 31924696
Phenotypes for gene: FLNC were set to Arrhythmogenic right ventricular cardiomyopathy
Review for gene: FLNC was set to AMBER
Added comment: Two families reported with truncating variants in this gene and ARVC. Gene is also associated with cardiomyopathy.
Sources: Expert list
Arrhythmogenic Cardiomyopathy v0.10 CHD2 Zornitza Stark Classified gene: CHD2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.10 CHD2 Zornitza Stark Gene: chd2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.9 CHD2 Zornitza Stark edited their review of gene: CHD2: Changed rating: AMBER
Mendeliome v0.3635 IVNS1ABP Zornitza Stark Marked gene: IVNS1ABP as ready
Mendeliome v0.3635 IVNS1ABP Zornitza Stark Gene: ivns1abp has been classified as Green List (High Evidence).
Mendeliome v0.3635 IVNS1ABP Zornitza Stark Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969
Mendeliome v0.3634 IVNS1ABP Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v0.162 IVNS1ABP Zornitza Stark Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969
Combined Immunodeficiency v0.161 IVNS1ABP Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3634 IFNG Zornitza Stark Phenotypes for gene: IFNG were changed from Mendelian susceptibility to mycobacterial disease to Mendelian susceptibility to mycobacterial disease; Immunodeficiency 69, MIM#618963
Mendeliome v0.3633 IFNG Zornitza Stark edited their review of gene: IFNG: Changed phenotypes: Mendelian susceptibility to mycobacterial disease, Immunodeficiency 69, MIM#618963
Arthrogryposis v0.197 TOR1A Zornitza Stark Phenotypes for gene: TOR1A were changed from Arthrogryposis to Arthrogryposis multiplex congenita, MIM#618947
Arthrogryposis v0.196 TOR1A Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3633 SYNE2 Zornitza Stark Tag disputed tag was added to gene: SYNE2.
Arthrogryposis v0.195 MED12 Zornitza Stark Marked gene: MED12 as ready
Arthrogryposis v0.195 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Arthrogryposis v0.195 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to MED12-related disorders
Arthrogryposis v0.194 MED12 Zornitza Stark Publications for gene: MED12 were set to
Arthrogryposis v0.193 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Arthrogryposis v0.192 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Arthrogryposis v0.192 TRIP4 Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence).
Arthrogryposis v0.192 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Arthrogryposis v0.191 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Arthrogryposis v0.190 TRIP4 Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Alagille syndrome v0.5 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Alagille syndrome v0.5 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Alagille syndrome v0.5 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2, MIM# 610205
Alagille syndrome v0.4 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2, MIM# 610205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alagille syndrome v0.4 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Alagille syndrome v0.4 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Alagille syndrome v0.4 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from to Alagille syndrome, MIM# 1 118450
Alagille syndrome v0.3 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome, MIM# 1 118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Marked gene: SDHD as ready
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.82 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300
Cancer Predisposition_Paediatric v0.81 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.80 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Marked gene: SDHC as ready
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.80 SDHC Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373
Cancer Predisposition_Paediatric v0.79 SDHC Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.78 SDHC Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Marked gene: SDHB as ready
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.78 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310
Cancer Predisposition_Paediatric v0.77 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.76 SDHB Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.76 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Cancer Predisposition_Paediatric v0.75 SDHAF2 Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.74 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Marked gene: SDHA as ready
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.74 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Paragangliomas 5, MIM# 614165
Cancer Predisposition_Paediatric v0.73 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.72 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 5, MIM# 614165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.72 RUNX1 Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Leukemia, acute myeloid, MIM# 601626
Cancer Predisposition_Paediatric v0.71 RUNX1 Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.70 RUNX1 Zornitza Stark reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.70 TRIP13 Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Cancer Predisposition_Paediatric v0.69 TRIP13 Zornitza Stark Publications for gene: TRIP13 were set to
Cancer Predisposition_Paediatric v0.68 TRIP13 Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.67 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Cancer Predisposition_Paediatric v0.67 TRIP13 Zornitza Stark reviewed gene: TRIP13: Rating: ; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.67 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Cancer Predisposition_Paediatric v0.66 TMEM127 Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.65 TMEM127 Zornitza Stark Classified gene: TMEM127 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.65 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.64 TMEM127 Zornitza Stark reviewed gene: TMEM127: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.64 RAD51C Zornitza Stark Classified gene: RAD51C as Red List (low evidence)
Cancer Predisposition_Paediatric v0.64 RAD51C Zornitza Stark Gene: rad51c has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark changed review comment from: Two families reported, paediatric tumour risk to be established.; to: Two families reported with congenital anomalies only, paediatric tumour risk to be established.
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark edited their review of gene: RAD51C: Changed rating: RED
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.63 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Cancer Predisposition_Paediatric v0.62 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Cancer Predisposition_Paediatric v0.61 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.60 RAD51C Zornitza Stark Classified gene: RAD51C as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.60 RAD51C Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.59 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.59 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456
Cancer Predisposition_Paediatric v0.58 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.58 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.57 MUTYH Zornitza Stark Classified gene: MUTYH as Red List (low evidence)
Cancer Predisposition_Paediatric v0.57 MUTYH Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.56 MUTYH Zornitza Stark reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark edited their review of gene: MAX: Changed rating: RED
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Marked gene: MAX as ready
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.56 MAX Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Cancer Predisposition_Paediatric v0.55 MAX Zornitza Stark Publications for gene: MAX were set to
Cancer Predisposition_Paediatric v0.54 MAX Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.53 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Marked gene: HRAS as ready
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.53 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040
Cancer Predisposition_Paediatric v0.52 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.51 HRAS Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.51 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to {Leukemia, acute myeloid, susceptibility to}, MIM# 601626
Cancer Predisposition_Paediatric v0.50 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.49 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leukemia, acute myeloid, susceptibility to}, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Marked gene: FH as ready
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.49 FH Zornitza Stark Phenotypes for gene: FH were changed from to Leiomyomatosis and renal cell cancer, MIM# 150800
Cancer Predisposition_Paediatric v0.48 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.47 FH Zornitza Stark Classified gene: FH as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.47 FH Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.46 FH Zornitza Stark reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leiomyomatosis and renal cell cancer, MIM# 150800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.46 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244
Cancer Predisposition_Paediatric v0.45 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.44 EPCAM Zornitza Stark Classified gene: EPCAM as Red List (low evidence)
Cancer Predisposition_Paediatric v0.44 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.43 EPCAM Zornitza Stark reviewed gene: EPCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Classified gene: DIS3L2 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.43 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.42 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Cancer Predisposition_Paediatric. Sources: Expert list
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000
Review for gene: DIS3L2 was set to GREEN
Added comment: Increased risk of Wilms tumour.
Sources: Expert list
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Marked gene: CEBPA as ready
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Gene: cebpa has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.41 CEBPA Zornitza Stark Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, MIM# 601626
Cancer Predisposition_Paediatric v0.40 CEBPA Zornitza Stark Publications for gene: CEBPA were set to
Cancer Predisposition_Paediatric v0.39 CEBPA Zornitza Stark Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.38 CEBPA Zornitza Stark reviewed gene: CEBPA: Rating: ; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.38 CDKN2A Zornitza Stark Phenotypes for gene: CDKN2A were changed from to Familial Malignant Melanoma and Tumors of the Nervous system; Familial Uveal Melanoma; Pancreatic cancer
Cancer Predisposition_Paediatric v0.37 CDKN2A Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.36 CDKN2A Zornitza Stark Classified gene: CDKN2A as Red List (low evidence)
Cancer Predisposition_Paediatric v0.36 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.35 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma, Pancreatic cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Marked gene: CDK4 as ready
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.35 CDK4 Zornitza Stark Phenotypes for gene: CDK4 were changed from to {Melanoma, cutaneous malignant, 3}, MIM# 609048
Cancer Predisposition_Paediatric v0.34 CDK4 Zornitza Stark Mode of inheritance for gene: CDK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.33 CDK4 Zornitza Stark Classified gene: CDK4 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.33 CDK4 Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.32 CDK4 Zornitza Stark reviewed gene: CDK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 3}, MIM# 609048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.32 CDH1 Zornitza Stark Phenotypes for gene: CDH1 were changed from to Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215
Cancer Predisposition_Paediatric v0.31 CDH1 Zornitza Stark Mode of inheritance for gene: CDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.30 CDH1 Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Marked gene: CDC73 as ready
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.30 CDC73 Zornitza Stark Phenotypes for gene: CDC73 were changed from to Parathyroid carcinoma, MIM# 608266
Cancer Predisposition_Paediatric v0.29 CDC73 Zornitza Stark Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.28 CDC73 Zornitza Stark Classified gene: CDC73 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.28 CDC73 Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.27 CDC73 Zornitza Stark reviewed gene: CDC73: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parathyroid carcinoma, MIM# 608266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Classified gene: BUB1B as Green List (high evidence)
Cancer Predisposition_Paediatric v0.27 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.26 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Cancer Predisposition_Paediatric. Sources: Expert list
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1B were set to 31081598; 31053147
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Review for gene: BUB1B was set to GREEN
Added comment: Syndrome with increased tumour risk: Wilms tumor, nephroblastoma, rhabdomyosarcoma, leukaemia.
Sources: Expert list
Mendeliome v0.3633 Zornitza Stark removed gene:BAP1 from the panel
Incidentalome v0.33 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Incidentalome v0.33 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Incidentalome v0.33 BAP1 Zornitza Stark Classified gene: BAP1 as Green List (high evidence)
Incidentalome v0.33 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Incidentalome v0.32 BAP1 Zornitza Stark gene: BAP1 was added
gene: BAP1 was added to Incidentalome. Sources: Expert list
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAP1 were set to 21941004; 23684012; 21874000; 21874003
Phenotypes for gene: BAP1 were set to Tumor predisposition syndrome, MIM# 614327
Review for gene: BAP1 was set to GREEN
Added comment: Generally adult onset, high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma
Sources: Expert list
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.25 BAP1 Zornitza Stark Phenotypes for gene: BAP1 were changed from to Tumor predisposition syndrome, MIM# 614327
Cancer Predisposition_Paediatric v0.24 BAP1 Zornitza Stark Publications for gene: BAP1 were set to
Cancer Predisposition_Paediatric v0.23 BAP1 Zornitza Stark Mode of inheritance for gene: BAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cancer Predisposition_Paediatric v0.22 BAP1 Zornitza Stark Classified gene: BAP1 as Red List (low evidence)
Cancer Predisposition_Paediatric v0.22 BAP1 Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence).
Cancer Predisposition_Paediatric v0.21 BAP1 Zornitza Stark reviewed gene: BAP1: Rating: RED; Mode of pathogenicity: None; Publications: 21941004, 23684012, 21874000, 21874003; Phenotypes: Tumor predisposition syndrome, MIM# 614327; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Classified gene: VKORC1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.33 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.32 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VKORC1 were set to 21900891; 28198005
Phenotypes for gene: VKORC1 were set to Warfarin resistance, MIM# 122700
Review for gene: VKORC1 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.31 CYP2C9 Zornitza Stark Publications for gene: CYP2C9 were set to 25099164
Pharmacogenomics_Paediatric v0.30 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164, 21900891, 28198005
Pharmacogenomics_Paediatric v0.30 CYP3A5 Zornitza Stark Publications for gene: CYP3A5 were set to
Pharmacogenomics_Paediatric v0.29 CYP3A5 Zornitza Stark edited their review of gene: CYP3A5: Changed publications: 25801146
Pharmacogenomics_Paediatric v0.29 CYP2C9 Zornitza Stark Publications for gene: CYP2C9 were set to
Pharmacogenomics_Paediatric v0.28 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164
Pharmacogenomics_Paediatric v0.28 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164; 23695185
Pharmacogenomics_Paediatric v0.27 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185, 29392710
Pharmacogenomics_Paediatric v0.27 TPMT Zornitza Stark Publications for gene: TPMT were set to
Pharmacogenomics_Paediatric v0.26 TPMT Zornitza Stark edited their review of gene: TPMT: Changed publications: 21270794, 23422873, 30447069
Pharmacogenomics_Paediatric v0.26 NUDT15 Zornitza Stark Publications for gene: NUDT15 were set to
Pharmacogenomics_Paediatric v0.25 NUDT15 Zornitza Stark edited their review of gene: NUDT15: Changed publications: 21270794, 23422873, 30447069
Pharmacogenomics_Paediatric v0.25 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185
Pharmacogenomics_Paediatric v0.25 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164
Pharmacogenomics_Paediatric v0.24 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 23695185
Pharmacogenomics_Paediatric v0.24 HLA-B Zornitza Stark Publications for gene: HLA-B were set to
Pharmacogenomics_Paediatric v0.23 HLA-B Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Classified gene: CACNA1S as Green List (high evidence)
Pharmacogenomics_Paediatric v0.23 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.22 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1S were set to 30499100
Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, MIM# 601887
Review for gene: CACNA1S was set to GREEN
Added comment: Two variants, c.520C>T; p.(Arg174Trp) and 3257G>A; p.(Arg1086His) have high level of evidence.
Sources: Expert list
Pharmacogenomics_Paediatric v0.21 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Pharmacogenomics_Paediatric v0.20 RYR1 Zornitza Stark edited their review of gene: RYR1: Changed publications: 30499100; Changed phenotypes: {Malignant hyperthermia susceptibility 1} 145600
Pharmacogenomics_Paediatric v0.20 NUDT15 Zornitza Stark Phenotypes for gene: NUDT15 were changed from {Thiopurines, poor metabolism of, 2} 616903; Azathioprine to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine; Mercaptopurine
Pharmacogenomics_Paediatric v0.19 NUDT15 Zornitza Stark edited their review of gene: NUDT15: Changed phenotypes: {Thiopurines, poor metabolism of, 2} 616903, Azathioprine, Mercaptopurine
Pharmacogenomics_Paediatric v0.19 CYP2C9 Zornitza Stark edited their review of gene: CYP2C9: Added comment: Activity levels of CYP2C9 are at 1-2% of adult values in the fetus during the first trimester. These levels gradually increase to 30% of adult values at term. There is a high variability in these levels during the first 5 months of life, with levels eventually approaching adult values somewhere between 5 months and 2 years of age.; Changed phenotypes: Warfarin sensitivity, MIM# 122700, Phenytoin
Pharmacogenomics_Paediatric v0.19 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine
Pharmacogenomics_Paediatric v0.18 TPMT Zornitza Stark edited their review of gene: TPMT: Changed phenotypes: {Thiopurines, poor metabolism of, 1}, MIM# 610460, Azathioprine, Mercaptopurine
Rasopathy v0.33 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Rasopathy v0.33 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Rasopathy v0.33 MAPK1 Zornitza Stark Classified gene: MAPK1 as Green List (high evidence)
Rasopathy v0.33 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Rasopathy v0.32 MAPK1 Zornitza Stark gene: MAPK1 was added
gene: MAPK1 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Review for gene: MAPK1 was set to GREEN
Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).
Sources: Literature
Mendeliome v0.3632 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Mendeliome v0.3632 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Mendeliome v0.3632 MAPK1 Zornitza Stark Classified gene: MAPK1 as Green List (high evidence)
Mendeliome v0.3632 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Mendeliome v0.3631 MAPK1 Zornitza Stark gene: MAPK1 was added
gene: MAPK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Review for gene: MAPK1 was set to GREEN
Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Classified gene: MAPK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2804 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2803 MAPK1 Konstantinos Varvagiannis gene: MAPK1 was added
gene: MAPK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin
Penetrance for gene: MAPK1 were set to unknown
Mode of pathogenicity for gene: MAPK1 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: MAPK1 was set to GREEN
Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).

The authors comment that screening of 267 additional individuals with suspected RASopathy (without mutations in previously implicated genes) did not reveal other MAPK1 variants.

Overall this gene can be considered for inclusion in the ID panel with green rating.
Sources: Literature
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1.
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.18 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.17 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Gentamicin toxicity
Review for gene: MT-RNR1 was set to GREEN
Added comment: m.1555A>G  and m.1494C>T
Sources: Expert list
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Marked gene: NUDT15 as ready
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Classified gene: NUDT15 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.16 NUDT15 Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.15 NUDT15 Zornitza Stark gene: NUDT15 was added
gene: NUDT15 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: NUDT15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUDT15 were set to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine
Review for gene: NUDT15 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Marked gene: HLA-B as ready
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Classified gene: HLA-B as Green List (high evidence)
Pharmacogenomics_Paediatric v0.14 HLA-B Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.13 HLA-B Zornitza Stark gene: HLA-B was added
gene: HLA-B was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: HLA-B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HLA-B were set to Carbamazepine; Oxcarbamazepine; Phenytoin
Review for gene: HLA-B was set to GREEN
Added comment: HLA-B*1502
Sources: Expert list
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Marked gene: HLA-A as ready
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Classified gene: HLA-A as Green List (high evidence)
Pharmacogenomics_Paediatric v0.12 HLA-A Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.11 HLA-A Zornitza Stark gene: HLA-A was added
gene: HLA-A was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: HLA-A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HLA-A were set to Carbamazepine
Review for gene: HLA-A was set to GREEN
Added comment: HLA-A*3101
Sources: Expert list
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Marked gene: CYP3A5 as ready
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Classified gene: CYP3A5 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.10 CYP3A5 Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.9 CYP3A5 Zornitza Stark gene: CYP3A5 was added
gene: CYP3A5 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP3A5 were set to Tacrolimus
Review for gene: CYP3A5 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Marked gene: CYP2C9 as ready
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Classified gene: CYP2C9 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.8 CYP2C9 Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.7 CYP2C9 Zornitza Stark gene: CYP2C9 was added
gene: CYP2C9 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP2C9 were set to Warfarin sensitivity, MIM# 122700; Phenytoin
Review for gene: CYP2C9 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Marked gene: TPMT as ready
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Classified gene: TPMT as Green List (high evidence)
Pharmacogenomics_Paediatric v0.6 TPMT Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.5 TPMT Zornitza Stark gene: TPMT was added
gene: TPMT was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine
Review for gene: TPMT was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Marked gene: G6PD as ready
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Classified gene: G6PD as Green List (high evidence)
Pharmacogenomics_Paediatric v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.3 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: G6PD were set to Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Classified gene: RYR1 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.2 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.1 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} 145600
Review for gene: RYR1 was set to GREEN
Added comment: Sources: Expert list
Pharmacogenomics_Paediatric v0.0 Zornitza Stark Added Panel Pharmacogenomics_Paediatric
Set panel types to: Australian Genomics
Callosome v0.175 ASPM Zornitza Stark Marked gene: ASPM as ready
Callosome v0.175 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Callosome v0.175 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Callosome v0.174 ASPM Zornitza Stark Publications for gene: ASPM were set to
Callosome v0.173 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.172 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2803 ASPM Zornitza Stark Marked gene: ASPM as ready
Intellectual disability syndromic and non-syndromic v0.2803 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2803 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Intellectual disability syndromic and non-syndromic v0.2802 ASPM Zornitza Stark Publications for gene: ASPM were set to
Intellectual disability syndromic and non-syndromic v0.2801 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2800 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.143 ASPM Zornitza Stark Marked gene: ASPM as ready
Microcephaly v0.143 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Microcephaly v0.143 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Microcephaly v0.142 ASPM Zornitza Stark Publications for gene: ASPM were set to
Microcephaly v0.141 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.140 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3630 ASPM Zornitza Stark Marked gene: ASPM as ready
Mendeliome v0.3630 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Mendeliome v0.3630 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Mendeliome v0.3629 ASPM Zornitza Stark Publications for gene: ASPM were set to
Mendeliome v0.3628 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3627 ASPM Elena Savva reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29243349; Phenotypes: Microcephaly 5, primary, autosomal recessive, 608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3627 AMBRA1 Bryony Thompson Marked gene: AMBRA1 as ready
Mendeliome v0.3627 AMBRA1 Bryony Thompson Gene: ambra1 has been classified as Green List (High Evidence).
Mendeliome v0.3627 AMBRA1 Bryony Thompson Classified gene: AMBRA1 as Green List (high evidence)
Mendeliome v0.3627 AMBRA1 Bryony Thompson Gene: ambra1 has been classified as Green List (High Evidence).
Mendeliome v0.3626 AMBRA1 Bryony Thompson gene: AMBRA1 was added
gene: AMBRA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMBRA1 were set to 17589504; 32333458
Phenotypes for gene: AMBRA1 were set to Neural tube defects
Review for gene: AMBRA1 was set to GREEN
Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects.
Sources: Literature
Mendeliome v0.3625 ERLEC1 Bryony Thompson Classified gene: ERLEC1 as Green List (high evidence)
Mendeliome v0.3625 ERLEC1 Bryony Thompson Gene: erlec1 has been classified as Green List (High Evidence).
Mendeliome v0.3624 ERLEC1 Bryony Thompson gene: ERLEC1 was added
gene: ERLEC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ERLEC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERLEC1 were set to 32442352
Phenotypes for gene: ERLEC1 were set to Class III malocclusion
Review for gene: ERLEC1 was set to GREEN
Added comment: A heterozygous missense variant was found to co-segregate with dentofacial deformity in a multi-generational Chinese pedigree (2 unaffected carriers & 11 affected carriers), and 3 additional missense variants were identified in 3 unrelated cases from a sporadic malocclusion cohort. Additional functional assays were conducted to demonstrate that the proper level of ERLEC1 expression is crucial for proper osteogenic differentiation. All identified missense variants were assessed using luciferase reporter assays, and altered activity.
Sources: Literature
Pancreatitis v0.28 TRPV6 Bryony Thompson changed review comment from: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature; to: Two studies identified a significant over-representation of loss of function, mainly missense variants (tested in in vitro functional assays) in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature
Pancreatitis v0.28 TRPV6 Bryony Thompson Marked gene: TRPV6 as ready
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.28 TRPV6 Bryony Thompson Classified gene: TRPV6 as Green List (high evidence)
Pancreatitis v0.28 TRPV6 Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence).
Pancreatitis v0.27 TRPV6 Bryony Thompson gene: TRPV6 was added
gene: TRPV6 was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV6 were set to 32383311; 31930989
Phenotypes for gene: TRPV6 were set to Early onset chronic pancreatitis susceptibility
Review for gene: TRPV6 was set to GREEN
Added comment: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: Literature
Autism v0.104 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Mendeliome v0.3623 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Mendeliome v0.3622 RIMS2 Zornitza Stark edited their review of gene: RIMS2: Changed phenotypes: nystagmus, retinal dysfunction, autism, night blindness, Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Congenital Stationary Night Blindness v0.4 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Congenital Stationary Night Blindness v0.3 RIMS2 Zornitza Stark reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3622 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Mendeliome v0.3622 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Mendeliome v0.3622 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Mendeliome v0.3621 WDR1 Zornitza Stark Publications for gene: WDR1 were set to
Mendeliome v0.3620 WDR1 Zornitza Stark Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3619 WDR1 Zornitza Stark reviewed gene: WDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate, Autoinflammatory periodic fever, Thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v0.39 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia
Phagocyte Defects v0.38 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.86 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to 27557945; 29751004; 27994071
Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Review for gene: WDR1 was set to GREEN
Added comment: At least 7 families reported.
Sources: Expert list
Hair disorders v0.34 HOXC13 Bryony Thompson Marked gene: HOXC13 as ready
Hair disorders v0.34 HOXC13 Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence).
Hair disorders v0.34 HOXC13 Bryony Thompson Classified gene: HOXC13 as Green List (high evidence)
Hair disorders v0.34 HOXC13 Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence).
Hair disorders v0.33 HOXC13 Bryony Thompson gene: HOXC13 was added
gene: HOXC13 was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXC13 were set to 23063621; 23315978; 29278420
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type MIM#614931
Review for gene: HOXC13 was set to GREEN
Added comment: 4 unrelated families with 4 different homozygous variants with hair abnormalities as a feature of the disease phenotype.
Sources: Literature
Mendeliome v0.3619 KREMEN1 Bryony Thompson Marked gene: KREMEN1 as ready
Mendeliome v0.3619 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3619 KREMEN1 Bryony Thompson Classified gene: KREMEN1 as Amber List (moderate evidence)
Mendeliome v0.3619 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3618 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KREMEN1 were set to 27049303; 27550540
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392
Review for gene: KREMEN1 was set to AMBER
Added comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development.
Sources: Expert list
Hair disorders v0.32 KREMEN1 Bryony Thompson Marked gene: KREMEN1 as ready
Hair disorders v0.32 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.32 KREMEN1 Bryony Thompson Classified gene: KREMEN1 as Amber List (moderate evidence)
Hair disorders v0.32 KREMEN1 Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.31 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KREMEN1 were set to 27049303; 27550540
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392
Review for gene: KREMEN1 was set to AMBER
Added comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development.
Sources: Expert list
Hair disorders v0.30 TSPEAR Bryony Thompson Marked gene: TSPEAR as ready
Hair disorders v0.30 TSPEAR Bryony Thompson Gene: tspear has been classified as Green List (High Evidence).
Hair disorders v0.30 TSPEAR Bryony Thompson Classified gene: TSPEAR as Green List (high evidence)
Hair disorders v0.30 TSPEAR Bryony Thompson Gene: tspear has been classified as Green List (High Evidence).
Hair disorders v0.29 TSPEAR Bryony Thompson gene: TSPEAR was added
gene: TSPEAR was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 27736875
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180
Review for gene: TSPEAR was set to GREEN
Added comment: 2 frameshift and 2 missense variants segregating with disease phenotype, which includes hair abnormalities in 3 families, and supporting functional assays.
Sources: Expert list
Hair disorders v0.28 KRT85 Bryony Thompson Classified gene: KRT85 as Green List (high evidence)
Hair disorders v0.28 KRT85 Bryony Thompson Gene: krt85 has been classified as Green List (High Evidence).
Hair disorders v0.27 KRT85 Bryony Thompson gene: KRT85 was added
gene: KRT85 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT85 were set to 16525032; 19865094; 31273852
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type MIM#602032
Review for gene: KRT85 was set to GREEN
Added comment: 4 families reported, 3 homozygous with 2 different variants and 1 compound heterozygous with hair abnormalities as a feature of the condition.
Sources: Expert list
Hair disorders v0.26 CST6 Bryony Thompson Marked gene: CST6 as ready
Hair disorders v0.26 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.26 CST6 Bryony Thompson Classified gene: CST6 as Amber List (moderate evidence)
Hair disorders v0.26 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.25 CST6 Bryony Thompson gene: CST6 was added
gene: CST6 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CST6 were set to 30425301; 12393798
Phenotypes for gene: CST6 were set to Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535
Review for gene: CST6 was set to AMBER
Added comment: A single family reported with hypotrichosis and a supporting null mouse model
Sources: Expert list
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Marked gene: ANO1 as ready
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Classified gene: ANO1 as Amber List (moderate evidence)
Congenital Diarrhoea v0.3 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Congenital Diarrhoea v0.2 ANO1 Zornitza Stark gene: ANO1 was added
gene: ANO1 was added to Congenital Diarrhoea. Sources: Literature
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Phenotypes for gene: ANO1 were set to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Review for gene: ANO1 was set to AMBER
Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature
Mendeliome v0.3617 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; dysmorphic features to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features
Mendeliome v0.3616 ANO1 Zornitza Stark Marked gene: ANO1 as ready
Mendeliome v0.3616 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3616 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from to Impaired intestinal peristalsis; dysmorphic features
Mendeliome v0.3615 ANO1 Zornitza Stark Classified gene: ANO1 as Amber List (moderate evidence)
Mendeliome v0.3615 ANO1 Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2800 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Intellectual disability syndromic and non-syndromic v0.2800 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2800 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763
Intellectual disability syndromic and non-syndromic v0.2799 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Intellectual disability syndromic and non-syndromic v0.2798 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2797 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.9 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Tubulinopathies v0.9 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Tubulinopathies v0.9 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763
Tubulinopathies v0.8 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Tubulinopathies v0.7 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.6 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3614 TUBB2A Zornitza Stark edited their review of gene: TUBB2A: Changed publications: 32571897
Mendeliome v0.3614 TUBB2A Zornitza Stark Marked gene: TUBB2A as ready
Mendeliome v0.3614 TUBB2A Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence).
Mendeliome v0.3614 TUBB2A Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5 MIM#615763
Mendeliome v0.3613 TUBB2A Zornitza Stark Publications for gene: TUBB2A were set to
Mendeliome v0.3612 TUBB2A Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3611 TUBB2A Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3611 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Mendeliome v0.3611 PMP22 Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence).
Mendeliome v0.3611 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800
Mendeliome v0.3610 PMP22 Zornitza Stark Publications for gene: PMP22 were set to
Mendeliome v0.3609 PMP22 Zornitza Stark Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3608 PMP22 Zornitza Stark Tag SV/CNV tag was added to gene: PMP22.
Mendeliome v0.3608 PMP22 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Note mechanism is often CNV.
Mendeliome v0.3608 PMP22 Zornitza Stark reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1A, MIM# 118220, Charcot-Marie-Tooth disease, type 1E, MIM# 118300, Dejerine-Sottas disease, MIM# 145900, Neuropathy, recurrent, with pressure palsies 162500, Roussy-Levy syndrome 180800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3608 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Mendeliome v0.3608 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.62 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125
Anophthalmia_Microphthalmia_Coloboma v0.61 OTX2 Zornitza Stark Publications for gene: OTX2 were set to
Anophthalmia_Microphthalmia_Coloboma v0.60 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia_Microphthalmia_Coloboma v0.59 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3608 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125; Pituitary hormone deficiency, combined, 6, MIM# 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125
Mendeliome v0.3607 OTX2 Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3606 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125, Pituitary hormone deficiency, combined, 6, MIM# 613986, Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120
Bone Marrow Failure v0.80 CDAN1 Zornitza Stark Publications for gene: CDAN1 were set to
Bone Marrow Failure v0.79 CDAN1 Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.78 CDAN1 Zornitza Stark reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3606 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Mendeliome v0.3606 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Mendeliome v0.3606 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120
Mendeliome v0.3605 CDAN1 Zornitza Stark Publications for gene: CDAN1 were set to
Mendeliome v0.3604 CDAN1 Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.151 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273
Congenital Disorders of Glycosylation v0.150 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Congenital Disorders of Glycosylation v0.149 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.148 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694, 32259258; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3603 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Mendeliome v0.3603 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Mendeliome v0.3603 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273
Mendeliome v0.3602 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Mendeliome v0.3601 NGLY1 Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3600 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.59 IMPG2 Zornitza Stark Marked gene: IMPG2 as ready
Retinitis pigmentosa v0.59 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.59 IMPG2 Zornitza Stark Publications for gene: IMPG2 were set to
Retinitis pigmentosa v0.58 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinitis pigmentosa v0.57 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v0.56 IMPG2 Zornitza Stark reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56, MIM# MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3600 IMPG2 Zornitza Stark Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, MIM#613581 to Retinitis pigmentosa 56, MIM#613581; Macular dystrophy, vitelliform, 5, MIM# 616152
Mendeliome v0.3599 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3598 IMPG2 Zornitza Stark Marked gene: IMPG2 as ready
Mendeliome v0.3598 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Mendeliome v0.3598 IMPG2 Zornitza Stark Phenotypes for gene: IMPG2 were changed from to Retinitis pigmentosa 56, MIM#613581
Mendeliome v0.3597 IMPG2 Zornitza Stark Publications for gene: IMPG2 were set to
Mendeliome v0.3596 IMPG2 Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.39 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.38 GNPNAT1 Zornitza Stark gene: GNPNAT1 was added
gene: GNPNAT1 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia
Review for gene: GNPNAT1 was set to AMBER
Added comment: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1.
Sources: Expert list
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Mendeliome v0.3595 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2797 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Intellectual disability syndromic and non-syndromic v0.2797 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2797 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393
Intellectual disability syndromic and non-syndromic v0.2796 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Intellectual disability syndromic and non-syndromic v0.2795 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.2794 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2793 EEF1A2 Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.766 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Genetic Epilepsy v0.766 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.766 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393
Genetic Epilepsy v0.765 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Genetic Epilepsy v0.764 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Genetic Epilepsy v0.763 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.762 EEF1A2 Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3594 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3593 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Mendeliome v0.3593 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Mendeliome v0.3593 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393
Mendeliome v0.3592 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Mendeliome v0.3591 EEF1A2 Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hair disorders v0.24 KDF1 Bryony Thompson Marked gene: KDF1 as ready
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.24 KDF1 Bryony Thompson Classified gene: KDF1 as Amber List (moderate evidence)
Hair disorders v0.24 KDF1 Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.23 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDF1 were set to 27838789; 24075906
Phenotypes for gene: KDF1 were set to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337
Review for gene: KDF1 was set to AMBER
Added comment: A single multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia, with hair abnormalities and a supporting null mouse model.
Sources: Expert list
Hair disorders v0.22 RMRP Bryony Thompson Marked gene: RMRP as ready
Hair disorders v0.22 RMRP Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence).
Hair disorders v0.22 RMRP Bryony Thompson Classified gene: RMRP as Green List (high evidence)
Hair disorders v0.22 RMRP Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence).
Hair disorders v0.21 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMRP were set to 16838329; 11207361
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia MIM#250250
Review for gene: RMRP was set to GREEN
Added comment: Well-established cause of a hair abnormality
Sources: Expert list
Mendeliome v0.3590 ANO1 Arina Puzriakova changed review comment from: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature; to: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature
Mendeliome v0.3590 ANO1 Arina Puzriakova gene: ANO1 was added
gene: ANO1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model.
Sources: Literature
Mendeliome v0.3590 TUBB2A Arina Puzriakova commented on gene: TUBB2A
Mendeliome v0.3590 PMP22 Eleanor Williams reviewed gene: PMP22: Rating: ; Mode of pathogenicity: None; Publications: 32356557; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3590 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3590 CDAN1 Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3590 NGLY1 Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3590 GNPNAT1 Arina Puzriakova edited their review of gene: GNPNAT1: Changed rating: AMBER
Mendeliome v0.3590 IMPG2 Eleanor Williams reviewed gene: IMPG2: Rating: ; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: None
Mendeliome v0.3590 GNPNAT1 Arina Puzriakova changed review comment from: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype.
Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation.
Sources: Literature; to: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype.
Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1.
Sources: Literature
Mendeliome v0.3590 GNPNAT1 Arina Puzriakova gene: GNPNAT1 was added
gene: GNPNAT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia
Review for gene: GNPNAT1 was set to RED
Added comment: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype.
Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation.
Sources: Literature
Mendeliome v0.3590 EEF1A2 Eleanor Williams reviewed gene: EEF1A2: 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: 32160274; Phenotypes: ; Mode of inheritance: None
Additional findings_Adult v0.119 VHL Zornitza Stark Marked gene: VHL as ready
Additional findings_Adult v0.119 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Additional findings_Adult v0.119 VHL Zornitza Stark Phenotypes for gene: VHL were changed from to von Hippel-Lindau syndrome , MIM#193300
Additional findings_Adult v0.118 VHL Zornitza Stark Mode of inheritance for gene: VHL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.117 VHL Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome , MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.117 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Additional findings_Adult v0.117 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.117 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254
Additional findings_Adult v0.116 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.115 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.115 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Additional findings_Adult v0.115 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.115 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100
Additional findings_Adult v0.114 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.113 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.113 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Additional findings_Adult v0.113 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.113 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Left ventricular noncompaction 9, MIM# 611878
Additional findings_Adult v0.112 TPM1 Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.111 TPM1 Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878, Cardiomyopathy, hypertrophic, 3, MIM# 115196, Left ventricular noncompaction 9, MIM# 611878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.111 TP53 Zornitza Stark Marked gene: TP53 as ready
Additional findings_Adult v0.111 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Additional findings_Adult v0.111 TP53 Zornitza Stark Phenotypes for gene: TP53 were changed from to Li-Fraumeni syndrome, MIM# 151623
Additional findings_Adult v0.110 TP53 Zornitza Stark Mode of inheritance for gene: TP53 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.109 TP53 Zornitza Stark reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Fraumeni syndrome, MIM# 151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.109 TNNT2 Zornitza Stark Marked gene: TNNT2 as ready
Additional findings_Adult v0.109 TNNT2 Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.109 TNNT2 Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Left ventricular noncompaction 6, MIM# 601494
Additional findings_Adult v0.108 TNNT2 Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.107 TNNT2 Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494, Cardiomyopathy, familial restrictive, 3, MIM# 612422, Cardiomyopathy, hypertrophic, 2, MIM# 115195, Left ventricular noncompaction 6, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.107 TNNI3 Zornitza Stark Marked gene: TNNI3 as ready
Additional findings_Adult v0.107 TNNI3 Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.107 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, familial restrictive, MIM#1 115210; Cardiomyopathy, hypertrophic, 7 , MIM#613690
Additional findings_Adult v0.106 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.105 TNNI3 Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM# 613286, Cardiomyopathy, familial restrictive, MIM#1 115210, Cardiomyopathy, hypertrophic, 7 , MIM#613690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.105 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Additional findings_Adult v0.105 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence).
Additional findings_Adult v0.105 TMEM43 Zornitza Stark Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Additional findings_Adult v0.104 TMEM43 Zornitza Stark Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.103 TMEM43 Zornitza Stark reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.103 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Additional findings_Adult v0.103 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.103 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168
Additional findings_Adult v0.102 TGFBR2 Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.101 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.101 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Additional findings_Adult v0.101 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.101 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192
Additional findings_Adult v0.100 TGFBR1 Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.99 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.99 STK11 Zornitza Stark Marked gene: STK11 as ready
Additional findings_Adult v0.99 STK11 Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence).
Additional findings_Adult v0.99 STK11 Zornitza Stark Phenotypes for gene: STK11 were changed from to Peutz-Jeghers syndrome, MIM# 175200
Additional findings_Adult v0.98 STK11 Zornitza Stark Mode of inheritance for gene: STK11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.97 STK11 Zornitza Stark reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.97 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Additional findings_Adult v0.97 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Additional findings_Adult v0.97 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050
Additional findings_Adult v0.96 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.95 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.95 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Additional findings_Adult v0.95 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.95 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Additional findings_Adult v0.94 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.93 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.93 SDHD Zornitza Stark Marked gene: SDHD as ready
Additional findings_Adult v0.93 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Additional findings_Adult v0.93 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300
Additional findings_Adult v0.92 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.91 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.91 SDHC Zornitza Stark Marked gene: SDHC as ready
Additional findings_Adult v0.91 SDHC Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence).
Additional findings_Adult v0.91 SDHC Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373
Additional findings_Adult v0.90 SDHC Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.89 SDHC Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3590 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Mendeliome v0.3590 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Mendeliome v0.3590 PKD1L1 Zornitza Stark Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal (MIM#617205)
Mendeliome v0.3589 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to
Mendeliome v0.3588 PKD1L1 Zornitza Stark Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3587 PKD1L1 Zornitza Stark reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492, 31026592; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v0.109 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Heterotaxy v0.109 PKD1L1 Zornitza Stark Added comment: Comment when marking as ready: Additional family reported, promote to Green.
Heterotaxy v0.109 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Heterotaxy v0.109 PKD1L1 Zornitza Stark Phenotypes for gene: PKD1L1 were changed from Heterotaxy, visceral, 8, autosomal (MIM#617205) to Heterotaxy, visceral, 8, autosomal (MIM#617205); heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia
Heterotaxy v0.108 PKD1L1 Zornitza Stark Publications for gene: PKD1L1 were set to 27616478; 30664273; 20080492
Heterotaxy v0.107 PKD1L1 Zornitza Stark Classified gene: PKD1L1 as Green List (high evidence)
Heterotaxy v0.107 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.89 SDHB Zornitza Stark Marked gene: SDHB as ready
Additional findings_Adult v0.89 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Additional findings_Adult v0.89 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310
Additional findings_Adult v0.88 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.87 SDHB Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.87 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Additional findings_Adult v0.87 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.87 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Additional findings_Adult v0.86 SDHAF2 Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.85 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.85 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Additional findings_Adult v0.85 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Additional findings_Adult v0.85 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from to Atrial fibrillation, familial, 10, MIM# 614022; Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900; Heart block, progressive, type IA, MIM# 113900; Long QT syndrome 3, MIM# 603830
Additional findings_Adult v0.84 SCN5A Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.83 SCN5A Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 10, MIM# 614022, Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900, Heart block, progressive, type IA, MIM# 113900, Long QT syndrome 3, MIM# 603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.83 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Additional findings_Adult v0.83 RYR2 Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.83 RYR2 Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2 , MIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
Additional findings_Adult v0.82 RYR2 Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.81 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 , MIM#600996, Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.81 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Additional findings_Adult v0.81 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.81 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to {Malignant hyperthermia susceptibility 1}, MIM#145600
Additional findings_Adult v0.80 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.79 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1}, MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.79 RET Zornitza Stark Marked gene: RET as ready
Additional findings_Adult v0.79 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Additional findings_Adult v0.79 RET Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Additional findings_Adult v0.78 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.77 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.77 PTEN Zornitza Stark Marked gene: PTEN as ready
Additional findings_Adult v0.77 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Additional findings_Adult v0.77 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350
Additional findings_Adult v0.76 PTEN Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Additional findings_Adult v0.75 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.75 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Additional findings_Adult v0.75 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.75 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858
Additional findings_Adult v0.74 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.73 PRKAG2 Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.73 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Additional findings_Adult v0.73 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.73 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337
Additional findings_Adult v0.72 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.71 PMS2 Zornitza Stark reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.71 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Additional findings_Adult v0.71 PKP2 Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.71 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Additional findings_Adult v0.70 PKP2 Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.69 PKP2 Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.69 PCSK9 Zornitza Stark Marked gene: PCSK9 as ready
Additional findings_Adult v0.69 PCSK9 Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence).
Additional findings_Adult v0.69 PCSK9 Zornitza Stark Phenotypes for gene: PCSK9 were changed from to Hypercholesterolemia, familial, 3, MIM# 603776
Additional findings_Adult v0.68 PCSK9 Zornitza Stark Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.67 PCSK9 Zornitza Stark reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 3, MIM# 603776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.67 OTC Zornitza Stark Marked gene: OTC as ready
Additional findings_Adult v0.67 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Additional findings_Adult v0.67 OTC Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency, MIM# 311250
Additional findings_Adult v0.66 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Additional findings_Adult v0.65 OTC Zornitza Stark reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Additional findings_Adult v0.65 NF2 Zornitza Stark Marked gene: NF2 as ready
Additional findings_Adult v0.65 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.65 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2, MIM# 101000
Additional findings_Adult v0.64 NF2 Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.63 NF2 Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2, MIM# 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.63 MYL3 Zornitza Stark Marked gene: MYL3 as ready
Additional findings_Adult v0.63 MYL3 Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.63 MYL3 Zornitza Stark Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Additional findings_Adult v0.62 MYL3 Zornitza Stark Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.61 MYL3 Zornitza Stark reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.61 MYL2 Zornitza Stark Marked gene: MYL2 as ready
Additional findings_Adult v0.61 MYL2 Zornitza Stark Gene: myl2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.61 MYL2 Zornitza Stark Phenotypes for gene: MYL2 were changed from to Cardiomyopathy, hypertrophic, 10, MIM# 608758
Additional findings_Adult v0.60 MYL2 Zornitza Stark Mode of inheritance for gene: MYL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.59 MYL2 Zornitza Stark reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.59 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Additional findings_Adult v0.59 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Additional findings_Adult v0.59 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600
Additional findings_Adult v0.58 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.57 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, Cardiomyopathy, hypertrophic, 1, MIM# 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.57 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Additional findings_Adult v0.57 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Additional findings_Adult v0.57 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM# 132900
Additional findings_Adult v0.56 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.55 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.55 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Additional findings_Adult v0.55 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Additional findings_Adult v0.55 MYBPC3 Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197; Left ventricular noncompaction 10, MIM# 615396
Additional findings_Adult v0.54 MYBPC3 Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.53 MYBPC3 Zornitza Stark reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM# 615396, Cardiomyopathy, hypertrophic, 4, MIM# 115197, Left ventricular noncompaction 10, MIM# 615396; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.53 MUTYH Zornitza Stark Marked gene: MUTYH as ready
Additional findings_Adult v0.53 MUTYH Zornitza Stark Gene: mutyh has been classified as Green List (High Evidence).
Additional findings_Adult v0.53 MUTYH Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456
Additional findings_Adult v0.52 MUTYH Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.51 MUTYH Zornitza Stark reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.51 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Additional findings_Adult v0.51 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Additional findings_Adult v0.51 MSH6 Zornitza Stark Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350
Additional findings_Adult v0.50 MSH6 Zornitza Stark Mode of inheritance for gene: MSH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.49 MSH6 Zornitza Stark reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.49 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Additional findings_Adult v0.49 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.49 MSH2 Zornitza Stark Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435
Additional findings_Adult v0.48 MSH2 Zornitza Stark Mode of inheritance for gene: MSH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.47 MSH2 Zornitza Stark reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.47 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Additional findings_Adult v0.47 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.47 MLH1 Zornitza Stark Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310
Additional findings_Adult v0.46 MLH1 Zornitza Stark Mode of inheritance for gene: MLH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.45 MLH1 Zornitza Stark reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.45 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Additional findings_Adult v0.45 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.45 MEN1 Zornitza Stark Phenotypes for gene: MEN1 were changed from to Multiple endocrine neoplasia 1, MIM# 131100
Additional findings_Adult v0.44 MEN1 Zornitza Stark Mode of inheritance for gene: MEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.43 MEN1 Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM# 131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.43 LMNA Zornitza Stark Marked gene: LMNA as ready
Additional findings_Adult v0.43 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Additional findings_Adult v0.43 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Cardiomyopathy, dilated, 1A, MIM# 115200
Additional findings_Adult v0.42 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.41 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.41 LDLR Zornitza Stark Marked gene: LDLR as ready
Additional findings_Adult v0.41 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Additional findings_Adult v0.41 LDLR Zornitza Stark Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1, MIM# 143890
Additional findings_Adult v0.40 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.39 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.39 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Additional findings_Adult v0.39 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.39 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500
Additional findings_Adult v0.38 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.37 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.37 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Additional findings_Adult v0.37 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.37 KCNH2 Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688
Additional findings_Adult v0.36 KCNH2 Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.35 KCNH2 Zornitza Stark reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 2, MIM# 613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.35 HFE Zornitza Stark Marked gene: HFE as ready
Additional findings_Adult v0.35 HFE Zornitza Stark Gene: hfe has been classified as Green List (High Evidence).
Additional findings_Adult v0.35 HFE Zornitza Stark Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200
Additional findings_Adult v0.34 HFE Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.33 HFE Zornitza Stark reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.33 GLA Zornitza Stark Marked gene: GLA as ready
Additional findings_Adult v0.33 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Additional findings_Adult v0.33 GLA Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500
Additional findings_Adult v0.32 GLA Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Additional findings_Adult v0.31 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Additional findings_Adult v0.31 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Additional findings_Adult v0.31 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.31 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700
Additional findings_Adult v0.30 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.29 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.29 DSP Zornitza Stark Marked gene: DSP as ready
Additional findings_Adult v0.29 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Additional findings_Adult v0.29 DSP Zornitza Stark Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821
Additional findings_Adult v0.28 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.27 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.27 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Additional findings_Adult v0.27 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.27 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Additional findings_Adult v0.26 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.25 DSG2 Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.25 DSC2 Zornitza Stark Marked gene: DSC2 as ready
Additional findings_Adult v0.25 DSC2 Zornitza Stark Gene: dsc2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.25 DSC2 Zornitza Stark Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
Additional findings_Adult v0.24 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.23 DSC2 Zornitza Stark reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Adult v0.23 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Additional findings_Adult v0.23 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.23 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Additional findings_Adult v0.22 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.21 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.21 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Additional findings_Adult v0.21 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Additional findings_Adult v0.21 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Malignant hyperthermia susceptibility 5, MIM# 601887
Additional findings_Adult v0.20 CACNA1S Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.19 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.19 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Additional findings_Adult v0.19 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.19 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555
Additional findings_Adult v0.18 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.17 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 2, MIM#612555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.17 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Additional findings_Adult v0.17 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.17 BRCA1 Zornitza Stark Phenotypes for gene: BRCA1 were changed from to Breast-ovarian cancer, familial, 1, MIM# 604370
Additional findings_Adult v0.16 BRCA1 Zornitza Stark Mode of inheritance for gene: BRCA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.15 BRCA1 Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 1, MIM# 604370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.15 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Additional findings_Adult v0.15 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Additional findings_Adult v0.15 BMPR1A Zornitza Stark Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900
Additional findings_Adult v0.14 BMPR1A Zornitza Stark Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.13 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.13 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Additional findings_Adult v0.13 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Additional findings_Adult v0.13 ATP7B Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Additional findings_Adult v0.12 ATP7B Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.11 ATP7B Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Adult v0.11 APOB Zornitza Stark Marked gene: APOB as ready
Additional findings_Adult v0.11 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Additional findings_Adult v0.11 APOB Zornitza Stark Phenotypes for gene: APOB were changed from to Hypercholesterolemia, familial, 2, MIM# 144010
Additional findings_Adult v0.10 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.9 APOB Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.9 APC Zornitza Stark Marked gene: APC as ready
Additional findings_Adult v0.9 APC Zornitza Stark Gene: apc has been classified as Green List (High Evidence).
Additional findings_Adult v0.9 APC Zornitza Stark Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100
Additional findings_Adult v0.8 APC Zornitza Stark Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.7 APC Zornitza Stark reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.7 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Additional findings_Adult v0.7 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.7 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424
Additional findings_Adult v0.6 ACTC1 Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.5 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424, Cardiomyopathy, hypertrophic, 11, MIM# 612098, Left ventricular noncompaction 4, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.5 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Additional findings_Adult v0.5 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.5 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788
Additional findings_Adult v0.4 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.3 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.20 KRT25 Bryony Thompson Classified gene: KRT25 as Green List (high evidence)
Hair disorders v0.20 KRT25 Bryony Thompson Gene: krt25 has been classified as Green List (High Evidence).
Hair disorders v0.19 KRT25 Bryony Thompson gene: KRT25 was added
gene: KRT25 was added to Hair disorders. Sources: Expert list
Mode of inheritance for gene: KRT25 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT25 were set to 26160856; 26902920; 29686323; 28899683
Phenotypes for gene: KRT25 were set to Woolly hair, autosomal recessive 3 MIM#616760
Review for gene: KRT25 was set to GREEN
Added comment: 4 unrelated families homozygous for 2 different missense variants and a single family segregating a heterozygous missense variant, with supporting in vitro functional assays. There is also supporting animal models.
Sources: Expert list
Combined Immunodeficiency v0.161 TERT Bryony Thompson reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Dyskeratosis congenita with Variable lymphocyte numbers; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v0.106 PKD1L1 Anna Le Fevre reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31026592 (in addition to those listed below); Phenotypes: heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3587 IVNS1ABP Bryony Thompson Classified gene: IVNS1ABP as Green List (high evidence)
Mendeliome v0.3587 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Mendeliome v0.3586 IVNS1ABP Bryony Thompson gene: IVNS1ABP was added
gene: IVNS1ABP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IVNS1ABP were set to 32499645
Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency
Review for gene: IVNS1ABP was set to GREEN
Added comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes.
Sources: Literature
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Marked gene: IVNS1ABP as ready
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Classified gene: IVNS1ABP as Green List (high evidence)
Combined Immunodeficiency v0.161 IVNS1ABP Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.160 IVNS1ABP Bryony Thompson gene: IVNS1ABP was added
gene: IVNS1ABP was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IVNS1ABP were set to 32499645
Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency
Review for gene: IVNS1ABP was set to GREEN
Added comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes.
Sources: Literature
Mendeliome v0.3585 PTPN2 Bryony Thompson Marked gene: PTPN2 as ready
Mendeliome v0.3585 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3585 PTPN2 Bryony Thompson Classified gene: PTPN2 as Amber List (moderate evidence)
Mendeliome v0.3585 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3584 PTPN2 Bryony Thompson gene: PTPN2 was added
gene: PTPN2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 32499645; 27658548
Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency
Review for gene: PTPN2 was set to AMBER
Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Marked gene: PTPN2 as ready
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Classified gene: PTPN2 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.84 PTPN2 Bryony Thompson gene: PTPN2 was added
gene: PTPN2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 32499645; 27658548
Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency
Review for gene: PTPN2 was set to AMBER
Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Mendeliome v0.3583 SOCS1 Bryony Thompson Marked gene: SOCS1 as ready
Mendeliome v0.3583 SOCS1 Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence).
Mendeliome v0.3583 SOCS1 Bryony Thompson Classified gene: SOCS1 as Green List (high evidence)
Mendeliome v0.3583 SOCS1 Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence).
Mendeliome v0.3582 SOCS1 Bryony Thompson gene: SOCS1 was added
gene: SOCS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Phenotypes for gene: SOCS1 were set to Common variable immunodeficiency
Review for gene: SOCS1 was set to GREEN
Added comment: 2 unrelated families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: Literature
Mitochondrial disease v0.455 MRPS28 Zornitza Stark Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958
Mitochondrial disease v0.454 MRPS28 Zornitza Stark edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958
Mendeliome v0.3581 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficienciesHepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mendeliome v0.3580 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.454 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952
Mitochondrial disease v0.453 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 46, MIM618952
Mendeliome v0.3580 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mendeliome v0.3579 MRPL12 Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.453 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.452 MRPL12 Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mendeliome v0.3579 TASP1 Zornitza Stark Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950
Mendeliome v0.3578 TASP1 Zornitza Stark edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950
Intellectual disability syndromic and non-syndromic v0.2793 TASP1 Zornitza Stark Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950
Intellectual disability syndromic and non-syndromic v0.2792 TASP1 Zornitza Stark edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Marked gene: LPIN1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Classified gene: LPIN1 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 LPIN1 Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence).
Glycogen Storage Diseases v0.23 ENO3 Zornitza Stark Marked gene: ENO3 as ready
Glycogen Storage Diseases v0.23 ENO3 Zornitza Stark Gene: eno3 has been classified as Green List (High Evidence).
Glycogen Storage Diseases v0.23 ENO3 Zornitza Stark Phenotypes for gene: ENO3 were changed from to Glycogen storage disease XIII, MIM#612932
Glycogen Storage Diseases v0.22 ENO3 Zornitza Stark Publications for gene: ENO3 were set to
Glycogen Storage Diseases v0.21 ENO3 Zornitza Stark Mode of inheritance for gene: ENO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Glycogen Storage Diseases v0.20 ENO3 Crystle Lee reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31741825, 11506403, 18070103, 25267339; Phenotypes: Glycogen storage disease XIII MIM#612932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Classified gene: ACADSB as Green List (high evidence)
Fatty Acid Oxidation Defects v0.36 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.34 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.33 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Review for gene: SLC52A3 was set to GREEN
Added comment: Definitive by ClinGen.
Sources: Expert list
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.32 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.31 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Review for gene: SLC52A2 was set to GREEN
Added comment: Definitive by ClinGen.
Sources: Expert list
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.30 SLC22A5 Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM# 212140
Fatty Acid Oxidation Defects v0.29 SLC22A5 Zornitza Stark Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.28 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Marked gene: PPARG as ready
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Classified gene: PPARG as Red List (low evidence)
Fatty Acid Oxidation Defects v0.28 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.27 PPARG Zornitza Stark reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3578 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Mendeliome v0.3578 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Mendeliome v0.3578 OXCT1 Zornitza Stark Phenotypes for gene: OXCT1 were changed from to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Mendeliome v0.3577 OXCT1 Zornitza Stark Publications for gene: OXCT1 were set to
Mendeliome v0.3576 OXCT1 Zornitza Stark Mode of inheritance for gene: OXCT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3575 OXCT1 Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.27 OXCT1 Zornitza Stark Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565
Fatty Acid Oxidation Defects v0.26 OXCT1 Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11757586, 8844009; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.26 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.26 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark changed review comment from: Two families reported, rated as 'moderate' by ClinGen.
Sources: Expert list; to: At least three families reported, rated as 'moderate' by ClinGen but only two families considered at time of assessment.
Sources: Expert list
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark edited their review of gene: NADK2: Changed rating: GREEN; Changed publications: 24847004, 27940755, 23212377, 28923496, 29388319; Changed phenotypes: 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.25 NADK2 Zornitza Stark Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496
Fatty Acid Oxidation Defects v0.24 NADK2 Zornitza Stark Classified gene: NADK2 as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v0.24 NADK2 Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.23 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to AMBER
Added comment: Two families reported, rated as 'moderate' by ClinGen.
Sources: Expert list
Mendeliome v0.3575 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Mendeliome v0.3575 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence).
Mendeliome v0.3575 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from to Bartter syndrome, type 2, 241200
Mendeliome v0.3574 KCNJ1 Zornitza Stark Publications for gene: KCNJ1 were set to
Mendeliome v0.3573 KCNJ1 Zornitza Stark Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3572 ZFYVE27 Zornitza Stark Marked gene: ZFYVE27 as ready
Mendeliome v0.3572 ZFYVE27 Zornitza Stark Gene: zfyve27 has been classified as Red List (Low Evidence).
Mendeliome v0.3572 ZFYVE27 Zornitza Stark Phenotypes for gene: ZFYVE27 were changed from to Spastic paraplegia 33, autosomal dominant MIM#610244
Mendeliome v0.3571 ZFYVE27 Zornitza Stark Publications for gene: ZFYVE27 were set to
Mendeliome v0.3570 ZFYVE27 Zornitza Stark Mode of inheritance for gene: ZFYVE27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3569 KLF10 Zornitza Stark Marked gene: KLF10 as ready
Mendeliome v0.3569 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Mendeliome v0.3569 KLF10 Zornitza Stark Classified gene: KLF10 as Red List (low evidence)
Mendeliome v0.3569 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Mendeliome v0.3568 MYOZ2 Zornitza Stark Marked gene: MYOZ2 as ready
Mendeliome v0.3568 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Mendeliome v0.3568 MYOZ2 Zornitza Stark Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838
Mendeliome v0.3567 MYOZ2 Zornitza Stark Publications for gene: MYOZ2 were set to
Mendeliome v0.3566 MYOZ2 Zornitza Stark Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3565 MYOZ2 Zornitza Stark Classified gene: MYOZ2 as Red List (low evidence)
Mendeliome v0.3565 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Mendeliome v0.3564 TRIM63 Zornitza Stark Marked gene: TRIM63 as ready
Mendeliome v0.3564 TRIM63 Zornitza Stark Added comment: Comment when marking as ready: Large case series published subsequent to ClinGen assessment.
Mendeliome v0.3564 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Mendeliome v0.3564 TRIM63 Zornitza Stark Classified gene: TRIM63 as Green List (high evidence)
Mendeliome v0.3564 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Mendeliome v0.3563 PDLIM3 Zornitza Stark Marked gene: PDLIM3 as ready
Mendeliome v0.3563 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Mendeliome v0.3563 PDLIM3 Zornitza Stark Classified gene: PDLIM3 as Red List (low evidence)
Mendeliome v0.3563 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Mendeliome v0.3562 PDLIM3 Zornitza Stark Tag SV/CNV tag was added to gene: PDLIM3.
Mendeliome v0.3562 OBSCN Zornitza Stark Marked gene: OBSCN as ready
Mendeliome v0.3562 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Mendeliome v0.3562 OBSCN Zornitza Stark Classified gene: OBSCN as Red List (low evidence)
Mendeliome v0.3562 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Optic Atrophy v0.111 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)
Optic Atrophy v0.110 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to 29181157; 26539208; 30252181; 30389403
Optic Atrophy v0.109 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.108 AFG3L2 Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Autosomal dominant optic atrophy, Autosomal recessive spastic ataxia 5, MIM#614487, Autosomal dominant spinocerebellar ataxia 28, MIM#610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic Atrophy v0.108 AFG3L2 Chern Lim Deleted their review
Optic Atrophy v0.108 AFG3L2 Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Optic atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.146 MYH6 Zornitza Stark Marked gene: MYH6 as ready
Hypertrophic cardiomyopathy v0.146 MYH6 Zornitza Stark Gene: myh6 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.146 MYH6 Zornitza Stark Phenotypes for gene: MYH6 were changed from to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy v0.145 MYH6 Zornitza Stark Publications for gene: MYH6 were set to
Hypertrophic cardiomyopathy v0.144 MYH6 Zornitza Stark Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.143 MYH6 Zornitza Stark Classified gene: MYH6 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.143 MYH6 Zornitza Stark Gene: myh6 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.142 PLN Seb Lunke Marked gene: PLN as ready
Hypertrophic cardiomyopathy v0.142 PLN Seb Lunke Gene: pln has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.142 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Hypertrophic cardiomyopathy v0.142 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.142 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858
Hypertrophic cardiomyopathy v0.142 PLN Seb Lunke Phenotypes for gene: PLN were changed from to Cardiomyopathy, hypertrophic, 18 (MIM #613874)
Hypertrophic cardiomyopathy v0.141 PLN Seb Lunke Publications for gene: PLN were set to
Hypertrophic cardiomyopathy v0.141 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858
Hypertrophic cardiomyopathy v0.140 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to
Hypertrophic cardiomyopathy v0.139 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.138 PRKAG2 Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.138 PLN Seb Lunke Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v0.137 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Hypertrophic cardiomyopathy v0.137 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.137 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease (MIM#300257)
Hypertrophic cardiomyopathy v0.136 LAMP2 Zornitza Stark Publications for gene: LAMP2 were set to
Hypertrophic cardiomyopathy v0.135 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.134 LAMP2 Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: None
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Marked gene: TTR as ready
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Added comment: Comment when marking as ready: Can present predominantly with HCM
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Gene: ttr has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.134 TTR Seb Lunke Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related MIM#105210
Hypertrophic cardiomyopathy v0.133 TTR Seb Lunke Publications for gene: TTR were set to
Hypertrophic cardiomyopathy v0.132 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease (MIM# 301500) to Fabry disease (MIM# 301500)
Hypertrophic cardiomyopathy v0.131 GLA Zornitza Stark Marked gene: GLA as ready
Hypertrophic cardiomyopathy v0.131 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.131 TTR Seb Lunke Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.131 GLA Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease (MIM# 301500)
Hypertrophic cardiomyopathy v0.130 GLA Zornitza Stark Publications for gene: GLA were set to
Hypertrophic cardiomyopathy v0.130 GLA Zornitza Stark Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.129 GLA Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.128 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Marked gene: GAA as ready
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Gene: gaa has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Classified gene: GAA as Red List (low evidence)
Hypertrophic cardiomyopathy v0.128 GAA Seb Lunke Gene: gaa has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.127 FXN Zornitza Stark Marked gene: FXN as ready
Hypertrophic cardiomyopathy v0.127 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.127 FXN Zornitza Stark Phenotypes for gene: FXN were changed from to Friedreich ataxia MIM#229300
Hypertrophic cardiomyopathy v0.126 FXN Zornitza Stark Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 SLC25A4 Paul De Fazio reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.125 FXN Zornitza Stark Classified gene: FXN as Red List (low evidence)
Hypertrophic cardiomyopathy v0.125 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283
Hypertrophic cardiomyopathy v0.124 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283
Hypertrophic cardiomyopathy v0.123 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Hypertrophic cardiomyopathy v0.122 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.121 MT-TI Seb Lunke Marked gene: MT-TI as ready
Hypertrophic cardiomyopathy v0.121 MT-TI Seb Lunke Added comment: Comment when marking as ready: NOTE: Mitochondrial DNA gene not tractable by many commonly used genomics methods.
Hypertrophic cardiomyopathy v0.121 MT-TI Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.121 SLC25A4 Zornitza Stark Classified gene: SLC25A4 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.121 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.120 MT-TI Seb Lunke Classified gene: MT-TI as Green List (high evidence)
Hypertrophic cardiomyopathy v0.120 MT-TI Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.119 MT-TI Seb Lunke Tag mtDNA tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v0.119 TTN Zornitza Stark Marked gene: TTN as ready
Hypertrophic cardiomyopathy v0.119 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.119 TTN Zornitza Stark Phenotypes for gene: TTN were changed from to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy v0.118 TTN Zornitza Stark Publications for gene: TTN were set to
Hypertrophic cardiomyopathy v0.117 TTN Zornitza Stark Classified gene: TTN as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.117 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.116 TTN Zornitza Stark Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.115 FHOD3 Seb Lunke Marked gene: FHOD3 as ready
Hypertrophic cardiomyopathy v0.115 FHOD3 Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.115 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from Noonan syndrome 1 MIM# 163950 to Noonan syndrome 1 MIM# 163950
Hypertrophic cardiomyopathy v0.114 FHOD3 Seb Lunke Tag SV/CNV tag was added to gene: FHOD3.
Hypertrophic cardiomyopathy v0.114 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Hypertrophic cardiomyopathy v0.114 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.114 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1 MIM# 163950
Hypertrophic cardiomyopathy v0.114 FHOD3 Seb Lunke Classified gene: FHOD3 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.114 FHOD3 Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.113 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.112 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.112 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 OBSCN Paul De Fazio gene: OBSCN was added
gene: OBSCN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy
Review for gene: OBSCN was set to RED
gene: OBSCN was marked as current diagnostic
Added comment: Limited evidence by ClinGen working group.

Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).

No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.
Sources: Literature
Hypertrophic cardiomyopathy v0.111 OBSCN Paul De Fazio Deleted their comment
Hypertrophic cardiomyopathy v0.111 OBSCN Paul De Fazio commented on gene: OBSCN: Limited evidence by ClinGen working group.

Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).

No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.
Hypertrophic cardiomyopathy v0.111 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Hypertrophic cardiomyopathy v0.111 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.111 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from to Cardiomyopathy, dilated, 1NN MIM#615916; Noonan syndrome 5 MIM#611553
Hypertrophic cardiomyopathy v0.110 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Hypertrophic cardiomyopathy v0.109 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.109 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.108 RAF1 Zornitza Stark Classified gene: RAF1 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.108 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 PDLIM3 Ain Roesley edited their review of gene: PDLIM3: Changed rating: RED
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Marked gene: OBSCN as ready
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Classified gene: OBSCN as Red List (low evidence)
Hypertrophic cardiomyopathy v0.107 OBSCN Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence).
Mendeliome v0.3561 PDLIM3 Ain Roesley gene: PDLIM3 was added
gene: PDLIM3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDLIM3 were set to 30681346; 26455666; 20801532
Phenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy
Penetrance for gene: PDLIM3 were set to unknown
Added comment: PMID: 30681346;
LIMITED by ClinGen working group

PMID: 26455666;
1x proband with multi-exon deletion

PMID: 20801532;
1x proband het for a missense
Sources: Literature
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Marked gene: PDLIM3 as ready
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Classified gene: PDLIM3 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.106 PDLIM3 Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 TRIM63 Ain Roesley gene: TRIM63 was added
gene: TRIM63 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to 30681346; 32451364
Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy
Penetrance for gene: TRIM63 were set to unknown
Review for gene: TRIM63 was set to GREEN
Added comment: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- segregated in 3 families
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Added comment: Comment when marking as ready: Gene is associated with CPVT phenotype.
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Classified gene: RYR2 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.105 RYR2 Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Marked gene: MYPN as ready
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Classified gene: MYPN as Red List (low evidence)
Hypertrophic cardiomyopathy v0.104 MYPN Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Marked gene: TRIM63 as ready
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Classified gene: TRIM63 as Green List (high evidence)
Hypertrophic cardiomyopathy v0.103 TRIM63 Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence).
Mendeliome v0.3561 MYOZ2 Paul De Fazio reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 28296734, 30681346, 22987565; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.102 MYOZ2 Zornitza Stark Marked gene: MYOZ2 as ready
Hypertrophic cardiomyopathy v0.102 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.102 MYOZ2 Zornitza Stark Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838
Hypertrophic cardiomyopathy v0.101 MYOZ2 Zornitza Stark Publications for gene: MYOZ2 were set to
Hypertrophic cardiomyopathy v0.100 MYOZ2 Zornitza Stark Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.99 MYOZ2 Zornitza Stark Classified gene: MYOZ2 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.99 MYOZ2 Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence).
Mendeliome v0.3561 KLF10 Paul De Fazio edited their review of gene: KLF10: Changed rating: RED
Mendeliome v0.3561 KLF10 Paul De Fazio gene: KLF10 was added
gene: KLF10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF10 were set to 22234868
Phenotypes for gene: KLF10 were set to HCM
gene: KLF10 was marked as current diagnostic
Added comment: Curated by ClinGen and rated as limited evidence.

Misssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature.
Sources: Literature
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Marked gene: JPH2 as ready
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Added comment: Comment when marking as ready: Note one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes.
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.98 JPH2 Zornitza Stark Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873
Hypertrophic cardiomyopathy v0.97 JPH2 Zornitza Stark Publications for gene: JPH2 were set to
Hypertrophic cardiomyopathy v0.96 JPH2 Zornitza Stark Mode of inheritance for gene: JPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.95 JPH2 Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.95 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Marked gene: KLF10 as ready
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Classified gene: KLF10 as Red List (low evidence)
Hypertrophic cardiomyopathy v0.94 KLF10 Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v0.93 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Hypertrophic cardiomyopathy v0.93 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v0.93 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, hypertrophic, 13 (MIM# 613243)
Hypertrophic cardiomyopathy v0.92 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Hypertrophic cardiomyopathy v0.91 TNNC1 Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.90 TNNC1 Zornitza Stark Classified gene: TNNC1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v0.90 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.58 ATP2A1 Bryony Thompson Deleted their review
Hypertrophic cardiomyopathy v0.89 PRKAG2 Ain Roesley reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: PRKAG2-cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v0.89 PLN Ain Roesley reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v0.89 LAMP2 Ain Roesley reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.89 TTR Paul De Fazio reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: None; Publications: 28475415, 31554435; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.89 GLA Ain Roesley reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v0.89 GAA Paul De Fazio edited their review of gene: GAA: Set current diagnostic: yes
Hypertrophic cardiomyopathy v0.89 GAA Paul De Fazio reviewed gene: GAA: Rating: RED; Mode of pathogenicity: None; Publications: 27142047; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 FXN Paul De Fazio reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MIM#229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Classified gene: FLAD1 as Amber List (moderate evidence)
Fatty Acid Oxidation Defects v0.22 FLAD1 Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence).
Fatty Acid Oxidation Defects v0.21 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100
Review for gene: FLAD1 was set to AMBER
Added comment: Classified as moderate by ClinGen. The classification for FLAD1 was based on eight cases from the literature harbouring mostly frameshift variants in exons 1 or 2, biochemical studies and in vitro studies. Many of the frameshift variants in FLAD1 were predicted to be loss-of-function. However, Olsen et al. noted that homozygous loss-of-function variants in FLAD1 would be unlikely as FLAD1 encodes the only known enzyme to catalyze the synthesis of flavin adenine dinucleotide (FAD) from flavin mononucleotide (FMN), an essential metabolic process. This led the authors to discover previously unknown isoforms that were residually expressed in these patients. Therefore, ClinGen downgraded points for each of these variants to the default points for non-loss-of-function variants, resulting in the 'Moderate' assessment.
Sources: Expert list
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Fatty Acid Oxidation Defects v0.20 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.19 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Fatty Acid Oxidation Defects. Sources: Expert list
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 31399326; 25125611; 25393721
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Review for gene: ECHS1 was set to GREEN
Added comment: Assessed as Definitive by the ClinGen FAOD working group.
Sources: Expert list
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Added comment: Comment when marking as ready: Definitive by ClinGen.
Fatty Acid Oxidation Defects v0.18 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Marked gene: ACADS as ready
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.18 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Fatty Acid Oxidation Defects v0.17 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.16 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Marked gene: ACADM as ready
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.16 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Fatty Acid Oxidation Defects v0.15 ACADM Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.14 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 SLC25A4 Paul De Fazio changed review comment from: Associated with mitochondrial DNA depletion syndrome for which cardiomyopathy is a feature. Not associated with isolated HCM.; to: Associated with mitochondrial DNA depletion syndrome for which HCM is a feature. Not associated with isolated HCM.
Hypertrophic cardiomyopathy v0.89 SLC25A4 Paul De Fazio reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio changed review comment from: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

PMID: 23332932
Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.

Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.
Sources: Literature; to: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion, other mtDNA abnormalities were also identified in this family.

PMID: 23332932
Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.

Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.
Sources: Literature
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio edited their review of gene: MT-TI: Changed publications: 12767666, 30025578, 29481798, 23332932
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio changed review comment from: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

Seems to be an association with HCM but also DCM and other mito-related phenotypes?
Sources: Literature; to: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

PMID: 23332932
Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM.

Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated.
Sources: Literature
Hypertrophic cardiomyopathy v0.89 MT-TI Paul De Fazio gene: MT-TI was added
gene: MT-TI was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Publications for gene: MT-TI were set to 12767666; 30025578; 29481798
Phenotypes for gene: MT-TI were set to Hypertrophic cardiomyopathy
Review for gene: MT-TI was set to AMBER
gene: MT-TI was marked as current diagnostic
Added comment: PMID: 12767666
2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G)

PMID: 30025578
1 family with HCM, variant was homoplasmic (m.4300A>G)

PMID: 29481798
Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion

Seems to be an association with HCM but also DCM and other mito-related phenotypes?
Sources: Literature
Hypertrophic cardiomyopathy v0.89 TTN Dean Phelan reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27625337, 31628103; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3561 KCNJ1 Elena Savva reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28630040; Phenotypes: Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 FHOD3 Ain Roesley changed review comment from: PMID: 32335906;
Deletion of exon 15-16 in 3 families

PMID: 31742804
- 7 affecteds in a 3-generation family, het for p.(Ser527del)
- 1 genotype positive, phenotype negative family member
- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects

PMID: 30442288;
- 60 HCM patients with no other variants in other sarcomeric genes
- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree)
Sources: Literature; to: PMID: 32335906;
Deletion of exon 15-16 in 3 families

PMID: 31742804
- 7 affecteds in a 3-generation family, het for p.(Ser527del)
- 1 genotype positive, phenotype negative family member
- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects

PMID: 30442288;
- 60 HCM probands with no other variants in other sarcomeric genes
- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree)
Sources: Literature
Hypertrophic cardiomyopathy v0.89 FHOD3 Ain Roesley gene: FHOD3 was added
gene: FHOD3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FHOD3 were set to 32335906; 31742804; 30442288
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Penetrance for gene: FHOD3 were set to unknown
Review for gene: FHOD3 was set to GREEN
Added comment: PMID: 32335906;
Deletion of exon 15-16 in 3 families

PMID: 31742804
- 7 affecteds in a 3-generation family, het for p.(Ser527del)
- 1 genotype positive, phenotype negative family member
- 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects

PMID: 30442288;
- 60 HCM patients with no other variants in other sarcomeric genes
- segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree)
Sources: Literature
Hair disorders v0.18 RPL21 Bryony Thompson Marked gene: RPL21 as ready
Hair disorders v0.18 RPL21 Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence).
Hair disorders v0.18 RPL21 Bryony Thompson Classified gene: RPL21 as Red List (low evidence)
Hair disorders v0.18 RPL21 Bryony Thompson Added comment: Comment on list classification: No supporting publications since the original in 2011.
Hair disorders v0.18 RPL21 Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence).
Hair disorders v0.17 RPL21 Bryony Thompson gene: RPL21 was added
gene: RPL21 was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL21 were set to 21412954
Phenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885
Review for gene: RPL21 was set to AMBER
Added comment: 2 unrelated Chinese families with the same missense (R32Q). Haplotype analysis revealed no founder effect in the 2 families. No functional assays were performed.
Sources: NHS GMS
Hypertrophic cardiomyopathy v0.89 PTPN11 Paul De Fazio reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1 MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hair disorders v0.16 DSC3 Bryony Thompson Marked gene: DSC3 as ready
Hair disorders v0.16 DSC3 Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.16 DSC3 Bryony Thompson Classified gene: DSC3 as Amber List (moderate evidence)
Hair disorders v0.16 DSC3 Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.15 DSC3 Bryony Thompson gene: DSC3 was added
gene: DSC3 was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC3 were set to 19765682; 31790667; 18682494
Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles MIM#613102
Review for gene: DSC3 was set to AMBER
Added comment: 2 unrelated cases reported with homozygous nonsense mutations. A conditional null allele in a mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss.
Sources: NHS GMS
Hypertrophic cardiomyopathy v0.89 RAF1 Paul De Fazio reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: None; Publications: 24777450; Phenotypes: Cardiomyopathy, dilated, 1NN MIM#615916, Noonan syndrome 5 MIM#611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hair disorders v0.14 SNRPE Bryony Thompson Marked gene: SNRPE as ready
Hair disorders v0.14 SNRPE Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence).
Hair disorders v0.14 SNRPE Bryony Thompson Classified gene: SNRPE as Amber List (moderate evidence)
Hair disorders v0.14 SNRPE Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence).
Hair disorders v0.13 SNRPE Bryony Thompson gene: SNRPE was added
gene: SNRPE was added to Hair disorders. Sources: NHS GMS
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNRPE were set to 23246290
Phenotypes for gene: SNRPE were set to Hypotrichosis 11 MIM#615059
Review for gene: SNRPE was set to AMBER
Added comment: 3 unrelated families with 2 different variants (segregation of Met1? variant in 2 families), and supporting in vitro functional assays.
Sources: NHS GMS
Hair disorders v0.12 TGM3 Bryony Thompson Marked gene: TGM3 as ready
Hair disorders v0.12 TGM3 Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.12 TGM3 Bryony Thompson Classified gene: TGM3 as Amber List (moderate evidence)
Hair disorders v0.12 TGM3 Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.11 TGM3 Bryony Thompson reviewed gene: TGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866708, 26194162; Phenotypes: Uncombable hair syndrome 2 MIM#617251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hair disorders v0.11 TCHH Bryony Thompson Marked gene: TCHH as ready
Hair disorders v0.11 TCHH Bryony Thompson Gene: tchh has been classified as Red List (Low Evidence).
Hair disorders v0.11 TCHH Bryony Thompson reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 OBSCN Paul De Fazio gene: OBSCN was added
gene: OBSCN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914
Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy
Review for gene: OBSCN was set to RED
gene: OBSCN was marked as current diagnostic
Added comment: Limited evidence by ClinGen working group.

Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).

No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.
Sources: Literature
Hair disorders v0.11 KRT74 Bryony Thompson Deleted their review
Hair disorders v0.11 BCS1L Bryony Thompson Marked gene: BCS1L as ready
Hair disorders v0.11 BCS1L Bryony Thompson Gene: bcs1l has been classified as Green List (High Evidence).
Hair disorders v0.11 LSS Bryony Thompson Marked gene: LSS as ready
Hair disorders v0.11 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Hair disorders v0.11 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Hair disorders v0.11 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Hair disorders v0.9 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Hair disorders. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3561 KRT71 Bryony Thompson Marked gene: KRT71 as ready
Mendeliome v0.3561 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3561 KRT71 Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence)
Mendeliome v0.3561 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3560 KRT71 Bryony Thompson gene: KRT71 was added
gene: KRT71 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT71 were set to 14632181; 22592156; 19713490
Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896
Review for gene: KRT71 was set to AMBER
Added comment: A single family with 3 affected members of a 3-generation Japanese family segregating a missense variant (F141C) with autosomal dominant woolly hair/hypotrichosis, with supporting functional assays and animal models.
Sources: Literature
Hair disorders v0.8 KRT71 Bryony Thompson Marked gene: KRT71 as ready
Hair disorders v0.8 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.8 KRT71 Bryony Thompson Publications for gene: KRT71 were set to 31332722
Hair disorders v0.7 KRT71 Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence)
Hair disorders v0.7 KRT71 Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence).
Hair disorders v0.6 KRT71 Bryony Thompson reviewed gene: KRT71: Rating: AMBER; Mode of pathogenicity: None; Publications: 14632181, 22592156, 19713490; Phenotypes: Hypotrichosis 13 MIM#615896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hair disorders v0.6 GTF2H5 Bryony Thompson Marked gene: GTF2H5 as ready
Hair disorders v0.6 GTF2H5 Bryony Thompson Gene: gtf2h5 has been classified as Green List (High Evidence).
Hair disorders v0.6 GTF2H5 Bryony Thompson Publications for gene: GTF2H5 were set to 31332722
Hair disorders v0.5 GTF2H5 Bryony Thompson reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28833524, 15220921, 8213812, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive MIM#616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 PDLIM3 Ain Roesley gene: PDLIM3 was added
gene: PDLIM3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDLIM3 were set to 30681346; 26455666; 20801532
Phenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy
Penetrance for gene: PDLIM3 were set to unknown
Review for gene: PDLIM3 was set to RED
Added comment: PMID: 30681346;
LIMITED by ClinGen working group

PMID: 26455666;
1x proband with multi-exon deletion

PMID: 20801532;
1x proband het for a missense
Sources: Literature
Hypertrophic cardiomyopathy v0.89 RYR2 Paul De Fazio gene: RYR2 was added
gene: RYR2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR2 were set to 30681346; 26573135; 22515980; 26656175; 30835254
Phenotypes for gene: RYR2 were set to Hypertrophic cardiomyopathy
Review for gene: RYR2 was set to AMBER
gene: RYR2 was marked as current diagnostic
Added comment: Limited evidence by ClinGen working group.

Via Clingen: 8 probands with HCM across 4 publications. A mouse model lends support to pathogenicity.

No additional reports in association with HCM found.
Sources: Literature
Hair disorders v0.5 RNF113A Bryony Thompson Marked gene: RNF113A as ready
Hair disorders v0.5 RNF113A Bryony Thompson Gene: rnf113a has been classified as Green List (High Evidence).
Hair disorders v0.5 TARS Bryony Thompson Marked gene: TARS as ready
Hair disorders v0.5 TARS Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence).
Hair disorders v0.5 TARS Bryony Thompson Publications for gene: TARS were set to 31332722
Mendeliome v0.3559 ACADL Zornitza Stark Tag disputed tag was added to gene: ACADL.
Hair disorders v0.4 TARS Bryony Thompson Classified gene: TARS as Amber List (moderate evidence)
Hair disorders v0.4 TARS Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3559 ACADL Zornitza Stark Marked gene: ACADL as ready
Mendeliome v0.3559 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Mendeliome v0.3559 ACADL Zornitza Stark Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction
Mendeliome v0.3558 ACADL Zornitza Stark Publications for gene: ACADL were set to
Mendeliome v0.3557 ACADL Zornitza Stark Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3556 ACADL Zornitza Stark Classified gene: ACADL as Red List (low evidence)
Mendeliome v0.3556 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Mendeliome v0.3555 ACADL Zornitza Stark reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Tag disputed tag was added to gene: ACADL.
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Marked gene: ACADL as ready
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.14 ACADL Zornitza Stark Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction
Hypertrophic cardiomyopathy v0.89 MYPN Ain Roesley gene: MYPN was added
gene: MYPN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYPN were set to 30681346; 20801532; 22286171
Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic, 22 (MIM# 615248)
Penetrance for gene: MYPN were set to unknown
Review for gene: MYPN was set to RED
Added comment: PMID: 30681346;
LIMITED by ClinGen working group.

Extract from ClinGen's curation:
Variants in this gene have been reported in at least 8 probands in 2 publications (PMIDs: 20801532, 22286171). This gene disease association is supported by expression studies, functional assays, and animal models. In summary, there is limited evidence to support this gene-disease relationship
Sources: Literature
Fatty Acid Oxidation Defects v0.13 ACADL Zornitza Stark Publications for gene: ACADL were set to
Fatty Acid Oxidation Defects v0.12 ACADL Zornitza Stark Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.11 ACADL Zornitza Stark Classified gene: ACADL as Red List (low evidence)
Fatty Acid Oxidation Defects v0.11 ACADL Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence).
Fatty Acid Oxidation Defects v0.10 ACADL Zornitza Stark reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 TRIM63 Ain Roesley changed review comment from: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature; to: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- segregated in 3 families
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Fatty Acid Oxidation Defects v0.10 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Fatty Acid Oxidation Defects v0.9 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fatty Acid Oxidation Defects v0.8 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 TRIM63 Ain Roesley gene: TRIM63 was added
gene: TRIM63 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to 30681346; 32451364
Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy
Penetrance for gene: TRIM63 were set to unknown
Review for gene: TRIM63 was set to GREEN
Added comment: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio changed review comment from: Limited evidence by ClinGen working group.

Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found.

A review of the literature finds no other reports.; to: Limited evidence by ClinGen working group.

Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function.

A review of the literature finds no other reports.
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 28296734, 30681346, 22987565
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 11114196, 30681346
Hypertrophic cardiomyopathy v0.89 MYOZ2 Paul De Fazio reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 11114196, 11114196, 30681346; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hair disorders v0.3 RNF113A Bryony Thompson reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive MIM##300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.452 TWNK Zornitza Stark Marked gene: TWNK as ready
Mitochondrial disease v0.452 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Mitochondrial disease v0.452 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Mitochondrial disease v0.451 TWNK Zornitza Stark Publications for gene: TWNK were set to
Mitochondrial disease v0.450 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.449 TWNK Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3555 TWNK Zornitza Stark Marked gene: TWNK as ready
Mendeliome v0.3555 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Mendeliome v0.3555 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Hypertrophic cardiomyopathy v0.89 JPH2 Paul De Fazio reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.3554 TWNK Zornitza Stark Publications for gene: TWNK were set to
Hypertrophic cardiomyopathy v0.89 KLF10 Naomi Baker gene: KLF10 was added
gene: KLF10 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLF10 were set to PMID: 22234868
Phenotypes for gene: KLF10 were set to HCM
Review for gene: KLF10 was set to RED
Added comment: Curated by ClinGen and rated as limited evidence.

Misssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature.
Sources: Literature
Mendeliome v0.3553 TWNK Zornitza Stark Mode of pathogenicity for gene: TWNK was changed from to Other
Mendeliome v0.3552 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3551 TWNK Elena Savva reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.89 TNNC1 Ain Roesley reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 11385718, 8572189, 21262074, 22815480, 26779504; Phenotypes: Cardiomyopathy, hypertrophic, 13 (MIM# 613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Bone Marrow Failure v0.77 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Bone Marrow Failure v0.76 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.75 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Mendeliome v0.3551 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Mendeliome v0.3551 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Mendeliome v0.3551 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Mendeliome v0.3550 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Chromosome Breakage Disorders v0.20 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v0.19 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Bone Marrow Failure v0.74 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888; Changed phenotypes: Fanconi anemia, complementation group T, MIM# 616435
Mendeliome v0.3550 P2RX2 Zornitza Stark Marked gene: P2RX2 as ready
Mendeliome v0.3550 P2RX2 Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence).
Mendeliome v0.3550 P2RX2 Zornitza Stark Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224
Mendeliome v0.3549 P2RX2 Zornitza Stark Publications for gene: P2RX2 were set to
Mendeliome v0.3548 P2RX2 Zornitza Stark Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3547 P2RX2 Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345450, 24211385; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3547 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Mendeliome v0.3547 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence).
Mendeliome v0.3547 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101
Mendeliome v0.3546 KCNQ4 Zornitza Stark Publications for gene: KCNQ4 were set to
Mendeliome v0.3545 KCNQ4 Zornitza Stark Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3544 KCNQ4 Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.372 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101
Deafness_IsolatedAndComplex v0.371 KCNQ4 Zornitza Stark Publications for gene: KCNQ4 were set to
Deafness_IsolatedAndComplex v0.370 KCNQ4 Zornitza Stark Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v0.369 KCNQ4 Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRB were set to 12709789; 25446085; 28604960
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Cardiomyopathy_Paediatric v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Cardiomyopathy_Paediatric v0.0 TMPO Zornitza Stark gene: TMPO was added
gene: TMPO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 TGFB3 Zornitza Stark gene: TGFB3 was added
gene: TGFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1
Cardiomyopathy_Paediatric v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCAP were set to 21530252; 23479141
Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N
Cardiomyopathy_Paediatric v0.0 TACO1 Zornitza Stark gene: TACO1 was added
gene: TACO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: TAB2 was set to Unknown
Cardiomyopathy_Paediatric v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Red
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Cardiomyopathy_Paediatric v0.0 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Cardiomyopathy_Paediatric v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Victorian Clinical Genetics Services,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Cardiomyopathy_Paediatric v0.0 NDUFA9 Zornitza Stark gene: NDUFA9 was added
gene: NDUFA9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 28671271; 22114105
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Cardiomyopathy_Paediatric v0.0 NDUFA6 Zornitza Stark gene: NDUFA6 was added
gene: NDUFA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Cardiomyopathy_Paediatric v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Cardiomyopathy_Paediatric v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: ILK was set to Unknown
Cardiomyopathy_Paediatric v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 27604308
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
Cardiomyopathy_Paediatric v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, 149400
Cardiomyopathy_Paediatric v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH,MetBioNet
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 27604308
Phenotypes for gene: GBE1 were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen storage disease IV, 232500; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; DCM; Polyglucosan body disease, adult form, 263570; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; Hypertrophic-hypocontractile cardiomyopathy; Glycogen Storage Disease
Cardiomyopathy_Paediatric v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis Type IVA; MPS IVA, Morquio A disease (MPS IV, Morquio disease); MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis IVA, 253000
Cardiomyopathy_Paediatric v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 24816252; 27604308
Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIC; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); HCM; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C
Cardiomyopathy_Paediatric v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27604308
Phenotypes for gene: ETFB were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); HCM; Glutaric acidemia IIB; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
Cardiomyopathy_Paediatric v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 27604308
Phenotypes for gene: ETFA were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIA; Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); HCM; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
Cardiomyopathy_Paediatric v0.0 DTNA Zornitza Stark gene: DTNA was added
gene: DTNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,
Cardiomyopathy_Paediatric v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 27604308
Phenotypes for gene: DHCR7 were set to Cataracts; Intellectual disability; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities
Cardiomyopathy_Paediatric v0.0 CYC1 Zornitza Stark gene: CYC1 was added
gene: CYC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Cardiomyopathy_Paediatric v0.0 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH
Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 24816252; 27604308
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Cardiomyopathy_Paediatric v0.0 COX6A1 Zornitza Stark gene: COX6A1 was added
gene: COX6A1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Cardiomyopathy_Paediatric v0.0 COA7 Zornitza Stark gene: COA7 was added
gene: COA7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 29718187; 27683825
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Cardiomyopathy_Paediatric v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: BTK was set to Unknown
Cardiomyopathy_Paediatric v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Cardiomyopathy_Paediatric v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 27604308
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Cardiomyopathy_Paediatric v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 ANKRD1 Zornitza Stark gene: ANKRD1 was added
gene: ANKRD1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH
Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant
Cardiomyopathy_Paediatric v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC2 were set to 28804536; 24385928
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Cardiomyopathy_Paediatric v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGSH were set to 27604308
Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III
Cardiomyopathy_Paediatric v0.0 RASA2 Zornitza Stark gene: RASA2 was added
gene: RASA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Amber
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA2 were set to PMID: 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome?
Cardiomyopathy_Paediatric v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 NDUFB8 Zornitza Stark gene: NDUFB8 was added
gene: NDUFB8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571; 27290639
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Cardiomyopathy_Paediatric v0.0 NDUFA4 Zornitza Stark gene: NDUFA4 was added
gene: NDUFA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447, 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Cardiomyopathy_Paediatric v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 27604308
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB
Cardiomyopathy_Paediatric v0.0 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 MT-TI Zornitza Stark gene: MT-TI was added
gene: MT-TI was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Cardiomyopathy_Paediatric v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber,MetBioNet
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308
Phenotypes for gene: MMACHC were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C
Cardiomyopathy_Paediatric v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 27604308; 21048366
Phenotypes for gene: HGSNAT were set to MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73
Cardiomyopathy_Paediatric v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HFE were set to 27604308
Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hemochromatosis; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); DCM; Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; Hypertrophic-hypocontractile cardiomyopathy
Cardiomyopathy_Paediatric v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Amber,NHS GMS,South West GLH
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 27604308
Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500; Fabry Disease; HCM; syndromic HCM; Limb pain, angiokeratom; Fabry disease; HCM is a late complication in adults, also found in female carriers
Cardiomyopathy_Paediatric v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Cardiomyopathy_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Cardiomyopathy_Paediatric v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Amber
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J
Cardiomyopathy_Paediatric v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAB were set to Cardiomyopathy, dilated, 1II,; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
Cardiomyopathy_Paediatric v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Cardiomyopathy_Paediatric v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cardiomyopathy_Paediatric v0.0 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W
Cardiomyopathy_Paediatric v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 31118583; 31131842; 31111153; 30878017; 30120737
Phenotypes for gene: TTR were set to syndromic HCM
Cardiomyopathy_Paediatric v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739
Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G
Cardiomyopathy_Paediatric v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 27604308
Phenotypes for gene: TSFM were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3, 610505; Combined oxidative phosphorylation deficiency 3 610505
Cardiomyopathy_Paediatric v0.0 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3
Cardiomyopathy_Paediatric v0.0 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6,
Cardiomyopathy_Paediatric v0.0 TNNI3K Zornitza Stark gene: TNNI3K was added
gene: TNNI3K was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Cardiomyopathy_Paediatric v0.0 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Hypertrophic cardiomyopathy
Cardiomyopathy_Paediatric v0.0 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TNNC1 were set to Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z
Cardiomyopathy_Paediatric v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Cardiomyopathy_Paediatric v0.0 TMEM43 Zornitza Stark gene: TMEM43 was added
gene: TMEM43 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302
Cardiomyopathy_Paediatric v0.0 TMEM126B Zornitza Stark gene: TMEM126B was added
gene: TMEM126B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374773; 27374774
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Cardiomyopathy_Paediatric v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 27604308
Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Dilated Cardiomyopathy, X-Linked; Left Ventricular Noncompaction Cardiomyopathy; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial lipid metabolism; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Barth syndrome
Cardiomyopathy_Paediatric v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Cardiomyopathy_Paediatric v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 26173643; 25795793
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559; Noonan syndrome 9
Mode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837
Phenotypes for gene: SOS1 were set to Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27604308
Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
Cardiomyopathy_Paediatric v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 27604308
Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM
Cardiomyopathy_Paediatric v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 24816252; 27604308
Phenotypes for gene: SLC22A5 were set to HCM, mixed; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; DCM; Carnitine transporter deficiency (primary carnitine deficiency); Propionicacidemia
Cardiomyopathy_Paediatric v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair; syndromic HCM
Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGCD were set to 10735275; 18779423; 23900355
Phenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L, 606685