Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Blepharophimosis v0.29 HSPG2 Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Blepharophimosis v0.28 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11101850, 16927315; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Marked gene: HLA-DRB1 as ready
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Gene: hla-drb1 has been classified as Red List (Low Evidence).
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Classified gene: HLA-DRB1 as Red List (low evidence)
Mendeliome v0.7850 HLA-DRB1 Zornitza Stark Gene: hla-drb1 has been classified as Red List (Low Evidence).
Mendeliome v0.7849 HLA-DRB1 Zornitza Stark reviewed gene: HLA-DRB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7849 HLA-DRA Zornitza Stark Marked gene: HLA-DRA as ready
Mendeliome v0.7849 HLA-DRA Zornitza Stark Gene: hla-dra has been classified as Red List (Low Evidence).
Mendeliome v0.7849 HLA-DRA Zornitza Stark Classified gene: HLA-DRA as Red List (low evidence)
Mendeliome v0.7849 HLA-DRA Zornitza Stark Gene: hla-dra has been classified as Red List (Low Evidence).
Mendeliome v0.7848 HLA-DRA Zornitza Stark reviewed gene: HLA-DRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7848 HLA-C Zornitza Stark Marked gene: HLA-C as ready
Mendeliome v0.7848 HLA-C Zornitza Stark Gene: hla-c has been classified as Red List (Low Evidence).
Mendeliome v0.7848 HLA-C Zornitza Stark Classified gene: HLA-C as Red List (low evidence)
Mendeliome v0.7848 HLA-C Zornitza Stark Gene: hla-c has been classified as Red List (Low Evidence).
Mendeliome v0.7847 HLA-C Zornitza Stark reviewed gene: HLA-C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7847 HLA-B Zornitza Stark Marked gene: HLA-B as ready
Mendeliome v0.7847 HLA-B Zornitza Stark Gene: hla-b has been classified as Red List (Low Evidence).
Mendeliome v0.7847 HLA-B Zornitza Stark Classified gene: HLA-B as Red List (low evidence)
Mendeliome v0.7847 HLA-B Zornitza Stark Gene: hla-b has been classified as Red List (Low Evidence).
Mendeliome v0.7846 HLA-B Zornitza Stark reviewed gene: HLA-B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7846 HLA-A Zornitza Stark Marked gene: HLA-A as ready
Mendeliome v0.7846 HLA-A Zornitza Stark Gene: hla-a has been classified as Red List (Low Evidence).
Mendeliome v0.7846 HLA-A Zornitza Stark Classified gene: HLA-A as Red List (low evidence)
Mendeliome v0.7846 HLA-A Zornitza Stark Gene: hla-a has been classified as Red List (Low Evidence).
Mendeliome v0.7845 HLA-A Zornitza Stark reviewed gene: HLA-A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7845 TAF6 Zornitza Stark Marked gene: TAF6 as ready
Mendeliome v0.7845 TAF6 Zornitza Stark Gene: taf6 has been classified as Green List (High Evidence).
Mendeliome v0.7845 TAF6 Zornitza Stark Phenotypes for gene: TAF6 were changed from to Alazami-Yuan syndrome, MIM# 617126
Mendeliome v0.7844 TAF6 Zornitza Stark Publications for gene: TAF6 were set to
Mendeliome v0.7843 TAF6 Zornitza Stark Mode of inheritance for gene: TAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7842 TAF6 Zornitza Stark reviewed gene: TAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574841, 32030742; Phenotypes: Alazami-Yuan syndrome, MIM# 617126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Marked gene: TAF6 as ready
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Gene: taf6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Phenotypes for gene: TAF6 were changed from Alazami-Yuan syndrome, MIM# 617126 to Alazami-Yuan syndrome, MIM# 617126
Intellectual disability syndromic and non-syndromic v0.3806 TAF6 Zornitza Stark Phenotypes for gene: TAF6 were changed from to Alazami-Yuan syndrome, MIM# 617126
Intellectual disability syndromic and non-syndromic v0.3805 TAF6 Zornitza Stark Publications for gene: TAF6 were set to
Intellectual disability syndromic and non-syndromic v0.3804 TAF6 Zornitza Stark Mode of inheritance for gene: TAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3803 TAF6 Zornitza Stark reviewed gene: TAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574841, 32030742; Phenotypes: Alazami-Yuan syndrome, MIM# 617126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7842 ANGPT2 Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema
Mendeliome v0.7841 ANGPT2 Zornitza Stark edited their review of gene: ANGPT2: Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema
Lymphoedema_nonsyndromic v0.24 ANGPT2 Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema
Lymphoedema_nonsyndromic v0.23 ANGPT2 Zornitza Stark edited their review of gene: ANGPT2: Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema
Ocular and Oculocutaneous Albinism v1.0 Zornitza Stark promoted panel to version 1.0
Ocular and Oculocutaneous Albinism v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.7841 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Mendeliome v0.7841 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Mendeliome v0.7841 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from to Albinism, oculocutaneous, type VI, MIM# 113750
Mendeliome v0.7840 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Mendeliome v0.7839 SLC24A5 Zornitza Stark Mode of inheritance for gene: SLC24A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.61 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from to Albinism, oculocutaneous, type VI, MIM# 113750
Mendeliome v0.7838 SLC24A5 Zornitza Stark reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI, MIM# 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.60 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to
Ocular and Oculocutaneous Albinism v0.59 SLC24A5 Zornitza Stark Mode of inheritance for gene: SLC24A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.58 SLC24A5 Zornitza Stark reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23364476, 23985994, 26491832; Phenotypes: Albinism, oculocutaneous, type VI, MIM# 113750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7838 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Mendeliome v0.7838 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Mendeliome v0.7838 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683
Mendeliome v0.7837 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Mendeliome v0.7836 SLC45A2 Zornitza Stark Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7835 SLC45A2 Zornitza Stark reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907, 14722913, 14961451; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574, MONDO:0011683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.58 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683
Ocular and Oculocutaneous Albinism v0.57 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Ocular and Oculocutaneous Albinism v0.56 SLC45A2 Zornitza Stark Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.55 SLC45A2 Zornitza Stark reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907, 14722913, 14961451; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574, MONDO:0011683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7835 TYR Zornitza Stark Marked gene: TYR as ready
Mendeliome v0.7835 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Mendeliome v0.7835 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100; MONDO:0008745; Albinism, oculocutaneous, type IB, MIM# 606952
Mendeliome v0.7834 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7833 TYR Zornitza Stark reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100, MONDO:0008745, Albinism, oculocutaneous, type IB, MIM# 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Marked gene: TYR as ready
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.55 TYR Zornitza Stark Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100; MONDO:0008745; Albinism, oculocutaneous, type IB, MIM# 606952
Ocular and Oculocutaneous Albinism v0.54 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.53 TYR Zornitza Stark reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100, Albinism, oculocutaneous, type IB, MIM# 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7833 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Mendeliome v0.7833 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Mendeliome v0.7833 TYRP1 Zornitza Stark Phenotypes for gene: TYRP1 were changed from to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747
Mendeliome v0.7832 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Mendeliome v0.7831 TYRP1 Zornitza Stark Mode of inheritance for gene: TYRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7830 TYRP1 Zornitza Stark reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.53 TYRP1 Zornitza Stark Phenotypes for gene: TYRP1 were changed from to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747
Ocular and Oculocutaneous Albinism v0.52 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Ocular and Oculocutaneous Albinism v0.51 TYRP1 Zornitza Stark Mode of inheritance for gene: TYRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.50 TYRP1 Zornitza Stark reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7830 MC1R Zornitza Stark Marked gene: MC1R as ready
Mendeliome v0.7830 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7830 MC1R Zornitza Stark Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200
Mendeliome v0.7829 MC1R Zornitza Stark Publications for gene: MC1R were set to
Mendeliome v0.7828 MC1R Zornitza Stark Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7827 MC1R Zornitza Stark Classified gene: MC1R as Amber List (moderate evidence)
Mendeliome v0.7827 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7826 MC1R Zornitza Stark reviewed gene: MC1R: Rating: AMBER; Mode of pathogenicity: None; Publications: 12876664; Phenotypes: {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Marked gene: MC1R as ready
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.50 MC1R Zornitza Stark Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200
Ocular and Oculocutaneous Albinism v0.49 MC1R Zornitza Stark Publications for gene: MC1R were set to
Ocular and Oculocutaneous Albinism v0.48 MC1R Zornitza Stark Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.47 MC1R Zornitza Stark Classified gene: MC1R as Amber List (moderate evidence)
Ocular and Oculocutaneous Albinism v0.47 MC1R Zornitza Stark Gene: mc1r has been classified as Amber List (Moderate Evidence).
Ocular and Oculocutaneous Albinism v0.46 MC1R Zornitza Stark reviewed gene: MC1R: Rating: AMBER; Mode of pathogenicity: None; Publications: 12876664; Phenotypes: {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Marked gene: LYST as ready
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.46 LYST Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500
Ocular and Oculocutaneous Albinism v0.45 LYST Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.44 LYST Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM# 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7826 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Mendeliome v0.7826 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Mendeliome v0.7826 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070
Mendeliome v0.7825 LRMDA Zornitza Stark Publications for gene: LRMDA were set to
Mendeliome v0.7824 LRMDA Zornitza Stark Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7823 LRMDA Zornitza Stark reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23395477; Phenotypes: Albinism, oculocutaneous, type VII, MIM# 615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.44 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070
Ocular and Oculocutaneous Albinism v0.43 LRMDA Zornitza Stark Publications for gene: LRMDA were set to
Ocular and Oculocutaneous Albinism v0.42 LRMDA Zornitza Stark Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.41 LRMDA Zornitza Stark reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23395477; Phenotypes: Albinism, oculocutaneous, type VII, MIM# 615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Gene: gpr143 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.41 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019
Ocular and Oculocutaneous Albinism v0.40 GPR143 Zornitza Stark Publications for gene: GPR143 were set to
Ocular and Oculocutaneous Albinism v0.39 GPR143 Zornitza Stark Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ocular and Oculocutaneous Albinism v0.38 GPR143 Zornitza Stark reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: None; Publications: 7647783, 9529334, 11793467; Phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500, MONDO:0021019; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Marked gene: SLC4A4 as ready
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Gene: slc4a4 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Classified gene: SLC4A4 as Green List (high evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.49 SLC4A4 Bryony Thompson Gene: slc4a4 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.48 SLC4A4 Bryony Thompson gene: SLC4A4 was added
gene: SLC4A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 20798035; 33439394
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278; hemiplegic migraine
Review for gene: SLC4A4 was set to GREEN
Added comment: At least 3 homozygous cases/families (1 isolated case & 2 consanguineous families) with hemiplegic migraine along with renal tubular acidosis, and supporting functional evidence demonstrating loss of protein activity. An additional 3 homozygous cases also reported with migraine with or without aura.
Sources: Literature
Alternating Hemiplegia and Hemiplegic Migraine v0.47 SLC1A3 Bryony Thompson Classified gene: SLC1A3 as Green List (high evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.47 SLC1A3 Bryony Thompson Gene: slc1a3 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.46 SLC1A3 Bryony Thompson reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29066757, 32754645, 16116111; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alternating Hemiplegia and Hemiplegic Migraine v0.46 PRRT2 Bryony Thompson Classified gene: PRRT2 as Green List (high evidence)
Alternating Hemiplegia and Hemiplegic Migraine v0.46 PRRT2 Bryony Thompson Gene: prrt2 has been classified as Green List (High Evidence).
Alternating Hemiplegia and Hemiplegic Migraine v0.45 PRRT2 Bryony Thompson reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23077016, 23077026, 26598493, 26598494, 33126500; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.7823 SERPINF2 Zornitza Stark Marked gene: SERPINF2 as ready
Mendeliome v0.7823 SERPINF2 Zornitza Stark Gene: serpinf2 has been classified as Green List (High Evidence).
Mendeliome v0.7823 SERPINF2 Zornitza Stark Phenotypes for gene: SERPINF2 were changed from to Alpha-2-plasmin inhibitor deficiency, MIM# 262850
Mendeliome v0.7822 SERPINF2 Zornitza Stark Publications for gene: SERPINF2 were set to
Mendeliome v0.7821 SERPINF2 Zornitza Stark Mode of inheritance for gene: SERPINF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7820 SERPINF2 Zornitza Stark reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2572590, 10583218, 31441040, 31282989, 29656168; Phenotypes: Alpha-2-plasmin inhibitor deficiency, MIM# 262850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Marked gene: SERPINF2 as ready
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Gene: serpinf2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.307 SERPINF2 Zornitza Stark Phenotypes for gene: SERPINF2 were changed from to Alpha-2-plasmin inhibitor deficiency, MIM# 262850
Bleeding and Platelet Disorders v0.306 SERPINF2 Zornitza Stark Publications for gene: SERPINF2 were set to
Bleeding and Platelet Disorders v0.305 SERPINF2 Zornitza Stark Mode of inheritance for gene: SERPINF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.304 SERPINF2 Zornitza Stark reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2572590, 10583218, 31441040, 31282989, 29656168; Phenotypes: Alpha-2-plasmin inhibitor deficiency, MIM# 262850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7820 SERPINE1 Zornitza Stark Marked gene: SERPINE1 as ready
Mendeliome v0.7820 SERPINE1 Zornitza Stark Gene: serpine1 has been classified as Green List (High Evidence).
Mendeliome v0.7820 SERPINE1 Zornitza Stark Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329
Mendeliome v0.7819 SERPINE1 Zornitza Stark Publications for gene: SERPINE1 were set to
Mendeliome v0.7818 SERPINE1 Zornitza Stark Mode of inheritance for gene: SERPINE1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.7817 SERPINE1 Zornitza Stark reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207454, 15650551; Phenotypes: Plasminogen activator inhibitor-1 deficiency, MIM# 613329; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Marked gene: SERPINE1 as ready
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Gene: serpine1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.304 SERPINE1 Zornitza Stark Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329
Bleeding and Platelet Disorders v0.303 SERPINE1 Zornitza Stark Publications for gene: SERPINE1 were set to
Bleeding and Platelet Disorders v0.302 SERPINE1 Zornitza Stark Mode of inheritance for gene: SERPINE1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.301 SERPINE1 Zornitza Stark reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207454, 15650551; Phenotypes: Plasminogen activator inhibitor-1 deficiency, MIM# 613329; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.7817 TBXA2R Zornitza Stark Marked gene: TBXA2R as ready
Mendeliome v0.7817 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7817 TBXA2R Zornitza Stark Phenotypes for gene: TBXA2R were changed from to {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009
Mendeliome v0.7816 TBXA2R Zornitza Stark Publications for gene: TBXA2R were set to
Mendeliome v0.7815 TBXA2R Zornitza Stark Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7814 TBXA2R Zornitza Stark Classified gene: TBXA2R as Amber List (moderate evidence)
Mendeliome v0.7814 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7813 TBXA2R Zornitza Stark reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: None; Publications: 7929844, 19828703, 22517902; Phenotypes: {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Marked gene: TBXA2R as ready
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.301 TBXA2R Zornitza Stark Phenotypes for gene: TBXA2R were changed from to {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009
Bleeding and Platelet Disorders v0.300 TBXA2R Zornitza Stark Publications for gene: TBXA2R were set to
Bleeding and Platelet Disorders v0.299 TBXA2R Zornitza Stark Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.298 TBXA2R Zornitza Stark Classified gene: TBXA2R as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.298 TBXA2R Zornitza Stark Gene: tbxa2r has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.297 TBXA2R Zornitza Stark reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: None; Publications: 7929844, 19828703, 22517902; Phenotypes: {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.224 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from Bleeding disorder, platelet-type, 8 MIM# 609821 to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Additional findings_Paediatric v0.223 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Additional findings_Paediatric v0.222 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.221 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7813 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Mendeliome v0.7813 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Mendeliome v0.7813 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Mendeliome v0.7812 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Mendeliome v0.7811 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7810 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.297 P2RY12 Zornitza Stark Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354
Bleeding and Platelet Disorders v0.296 P2RY12 Zornitza Stark Publications for gene: P2RY12 were set to
Bleeding and Platelet Disorders v0.295 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark changed review comment from: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.; to: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.

Families with bi-allelic and mono-allelic disease reported. Dominant negative mechanism proposed for mono-allelic disease.
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark edited their review of gene: P2RY12: Changed publications: 11196645, 12578987, 29117459, 19237732; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark edited their review of gene: P2RY12: Changed phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354
Bleeding and Platelet Disorders v0.294 P2RY12 Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7810 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Mendeliome v0.7810 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Mendeliome v0.7810 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331
Mendeliome v0.7809 MCFD2 Zornitza Stark Publications for gene: MCFD2 were set to
Mendeliome v0.7808 MCFD2 Zornitza Stark Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7807 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717434, 16304051, 18391077; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625, MONDO:0013331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.294 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331
Bleeding and Platelet Disorders v0.293 MCFD2 Zornitza Stark Publications for gene: MCFD2 were set to
Bleeding and Platelet Disorders v0.292 MCFD2 Zornitza Stark Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.291 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717434, 16304051, 18391077,; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625, MONDO:0013331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7807 LMAN1 Zornitza Stark Marked gene: LMAN1 as ready
Mendeliome v0.7807 LMAN1 Zornitza Stark Gene: lman1 has been classified as Green List (High Evidence).
Mendeliome v0.7807 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206
Mendeliome v0.7806 LMAN1 Zornitza Stark Publications for gene: LMAN1 were set to
Mendeliome v0.7805 LMAN1 Zornitza Stark Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7804 LMAN1 Zornitza Stark reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9546392, 16304051; Phenotypes: Combined factor V and VIII deficiency, MIM# 227300, MONDO:0009206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.291 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from Combined factor V and VIII deficiency, MIM# 227300 to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Marked gene: LMAN1 as ready
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Gene: lman1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.290 LMAN1 Zornitza Stark Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300
Bleeding and Platelet Disorders v0.289 LMAN1 Zornitza Stark Publications for gene: LMAN1 were set to
Bleeding and Platelet Disorders v0.288 LMAN1 Zornitza Stark Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 LMAN1 Zornitza Stark reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9546392, 16304051; Phenotypes: Combined factor V and VIII deficiency, MIM# 227300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7804 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
Mendeliome v0.7804 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Mendeliome v0.7804 ITGA2B Zornitza Stark Phenotypes for gene: ITGA2B were changed from to Bleeding disorder, platelet-type, 16, MIM# 187800; MONDO:000855; Glanzmann thrombasthaenia 1, MIM# 273800
Mendeliome v0.7803 ITGA2B Zornitza Stark Publications for gene: ITGA2B were set to
Mendeliome v0.7802 ITGA2B Zornitza Stark Mode of inheritance for gene: ITGA2B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark changed review comment from: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.

Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.; to: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.

Glanzmann thrombasthaenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.
Mendeliome v0.7801 ITGA2B Zornitza Stark reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 1638023, 21454453, 8282784, 16463284; Phenotypes: Bleeding disorder, platelet-type, 16, MIM# 187800, MONDO:000855, Glanzmann thrombasthaenia 1, MIM# 273800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.287 ITGA2B Zornitza Stark Phenotypes for gene: ITGA2B were changed from to Bleeding disorder, platelet-type, 16, MIM# 187800; MONDO:000855; Glanzmann thrombasthaenia 1, MIM# 273800
Bleeding and Platelet Disorders v0.286 ITGA2B Zornitza Stark Publications for gene: ITGA2B were set to
Bleeding and Platelet Disorders v0.285 ITGA2B Zornitza Stark Mode of inheritance for gene: ITGA2B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.284 ITGA2B Zornitza Stark reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 1638023, 21454453, 8282784, 16463284; Phenotypes: Bleeding disorder, platelet-type, 16, MIM# 187800, MONDO:000855, Glanzmann thrombasthaenia 1, MIM# 273800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7801 LMOD1 Zornitza Stark Marked gene: LMOD1 as ready
Mendeliome v0.7801 LMOD1 Zornitza Stark Gene: lmod1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7801 LMOD1 Zornitza Stark Phenotypes for gene: LMOD1 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Mendeliome v0.7800 LMOD1 Zornitza Stark Publications for gene: LMOD1 were set to
Mendeliome v0.7799 LMOD1 Zornitza Stark Mode of inheritance for gene: LMOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7798 LMOD1 Zornitza Stark Classified gene: LMOD1 as Amber List (moderate evidence)
Mendeliome v0.7798 LMOD1 Zornitza Stark Gene: lmod1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7797 LMOD1 Zornitza Stark reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.37 LMOD1 Zornitza Stark Phenotypes for gene: LMOD1 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362
Gastrointestinal neuromuscular disease v0.36 LMOD1 Zornitza Stark reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Marked gene: POU4F1 as ready
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Classified gene: POU4F1 as Green List (high evidence)
Ataxia - paediatric v0.282 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.281 POU4F1 Bryony Thompson gene: POU4F1 was added
gene: POU4F1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU4F1 were set to 33783914; 8876243
Phenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia
Review for gene: POU4F1 was set to GREEN
Added comment: 4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model.
Sources: Literature
Mendeliome v0.7797 POU4F1 Bryony Thompson Marked gene: POU4F1 as ready
Mendeliome v0.7797 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Mendeliome v0.7797 POU4F1 Bryony Thompson Classified gene: POU4F1 as Green List (high evidence)
Mendeliome v0.7797 POU4F1 Bryony Thompson Gene: pou4f1 has been classified as Green List (High Evidence).
Mendeliome v0.7796 POU4F1 Bryony Thompson gene: POU4F1 was added
gene: POU4F1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU4F1 were set to 33783914; 8876243
Phenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia
Review for gene: POU4F1 was set to GREEN
Added comment: 4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model.
Sources: Literature
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.38 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Ocular and Oculocutaneous Albinism v0.37 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Ocular and Oculocutaneous Albinism v0.36 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.35 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7795 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Mendeliome v0.7795 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Mendeliome v0.7795 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Mendeliome v0.7794 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Mendeliome v0.7793 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.284 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Mendeliome v0.7792 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.283 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Bleeding and Platelet Disorders v0.282 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.281 HPS6 Zornitza Stark reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.35 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Ocular and Oculocutaneous Albinism v0.34 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Ocular and Oculocutaneous Albinism v0.33 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.32 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7792 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Mendeliome v0.7792 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Mendeliome v0.7792 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Bleeding and Platelet Disorders v0.281 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Mendeliome v0.7791 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Mendeliome v0.7790 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7789 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.280 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Bleeding and Platelet Disorders v0.279 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.278 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.32 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Ocular and Oculocutaneous Albinism v0.31 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Ocular and Oculocutaneous Albinism v0.30 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.29 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7789 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Mendeliome v0.7789 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Mendeliome v0.7789 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Mendeliome v0.7788 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Mendeliome v0.7787 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7786 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.278 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Bleeding and Platelet Disorders v0.277 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Bleeding and Platelet Disorders v0.276 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.276 HPS3 Zornitza Stark Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS3 Zornitza Stark edited their review of gene: HPS3: Added comment: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes.

Well established gene-disease association.; Changed phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555
Bleeding and Platelet Disorders v0.275 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.29 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Ocular and Oculocutaneous Albinism v0.28 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Ocular and Oculocutaneous Albinism v0.27 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.275 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Ocular and Oculocutaneous Albinism v0.26 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7786 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Mendeliome v0.7786 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Mendeliome v0.7786 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Mendeliome v0.7785 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Mendeliome v0.7784 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7783 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.274 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Bleeding and Platelet Disorders v0.273 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.272 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7783 GP9 Zornitza Stark Marked gene: GP9 as ready
Mendeliome v0.7783 GP9 Zornitza Stark Gene: gp9 has been classified as Green List (High Evidence).
Mendeliome v0.7783 GP9 Zornitza Stark Phenotypes for gene: GP9 were changed from to Bernard-Soulier syndrome, type C, MIM# 231200
Mendeliome v0.7782 GP9 Zornitza Stark Publications for gene: GP9 were set to
Mendeliome v0.7781 GP9 Zornitza Stark Mode of inheritance for gene: GP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7780 GP9 Zornitza Stark reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 8049428, 33553065, 32030720, 31484196; Phenotypes: Bernard-Soulier syndrome, type C, MIM# 231200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Marked gene: GP9 as ready
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Gene: gp9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.272 GP9 Zornitza Stark Phenotypes for gene: GP9 were changed from to Bernard-Soulier syndrome, type C, MIM# 231200
Bleeding and Platelet Disorders v0.271 GP9 Zornitza Stark Publications for gene: GP9 were set to
Bleeding and Platelet Disorders v0.270 GP9 Zornitza Stark Mode of inheritance for gene: GP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.269 GP9 Zornitza Stark edited their review of gene: GP9: Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.

At least 3 unrelated families reported, animal model.; Changed publications: 8049428, 33553065, 32030720, 31484196
Bleeding and Platelet Disorders v0.269 GP9 Zornitza Stark reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 8049428; Phenotypes: Bernard-Soulier syndrome, type C, MIM# 231200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7780 GP6 Zornitza Stark Marked gene: GP6 as ready
Mendeliome v0.7780 GP6 Zornitza Stark Gene: gp6 has been classified as Green List (High Evidence).
Mendeliome v0.7780 GP6 Zornitza Stark Phenotypes for gene: GP6 were changed from to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623
Mendeliome v0.7779 GP6 Zornitza Stark Publications for gene: GP6 were set to
Mendeliome v0.7778 GP6 Zornitza Stark Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7777 GP6 Zornitza Stark reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19549989, 19552682, 23815599; Phenotypes: Bleeding disorder, platelet-type, 11, MIM# 614201, MONDO:0013623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Marked gene: GP6 as ready
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Gene: gp6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.269 GP6 Zornitza Stark Phenotypes for gene: GP6 were changed from to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623
Bleeding and Platelet Disorders v0.268 GP6 Zornitza Stark Publications for gene: GP6 were set to 19549989; 19552682; 23815599
Bleeding and Platelet Disorders v0.268 GP6 Zornitza Stark Publications for gene: GP6 were set to
Bleeding and Platelet Disorders v0.267 GP6 Zornitza Stark Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.266 GP6 Zornitza Stark reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19549989, 19552682, 23815599; Phenotypes: Bleeding disorder, platelet-type, 11, MIM# 614201, MONDO:0013623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7777 GP1BB Zornitza Stark Marked gene: GP1BB as ready
Mendeliome v0.7777 GP1BB Zornitza Stark Gene: gp1bb has been classified as Green List (High Evidence).
Mendeliome v0.7777 GP1BB Zornitza Stark Phenotypes for gene: GP1BB were changed from to Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia
Mendeliome v0.7776 GP1BB Zornitza Stark Publications for gene: GP1BB were set to
Mendeliome v0.7775 GP1BB Zornitza Stark Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7774 GP1BB Zornitza Stark reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8703016, 9116284, 10887115, 33813986, 33657022, 33216977, 31997307, 1730088, 11222377; Phenotypes: Bernard-Soulier syndrome, type B, MIM# 231200, Macrothrombocytopaenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Marked gene: GP1BB as ready
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Gene: gp1bb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.266 GP1BB Zornitza Stark Phenotypes for gene: GP1BB were changed from to Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia
Bleeding and Platelet Disorders v0.265 GP1BB Zornitza Stark Publications for gene: GP1BB were set to
Bleeding and Platelet Disorders v0.264 GP1BB Zornitza Stark Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.263 GP1BB Zornitza Stark reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8703016, 9116284, 10887115, 33813986, 33657022, 33216977, 31997307, 1730088, 11222377; Phenotypes: Bernard-Soulier syndrome, type B, MIM# 231200, Macrothrombocytopaenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Marked gene: FGG as ready
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Gene: fgg has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.263 FGG Zornitza Stark Phenotypes for gene: FGG were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Bleeding and Platelet Disorders v0.262 FGG Zornitza Stark Publications for gene: FGG were set to
Bleeding and Platelet Disorders v0.261 FGG Zornitza Stark Mode of inheritance for gene: FGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.260 FGG Zornitza Stark reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001902, 11001903, 3337908; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7774 CREB3L3 Zornitza Stark Marked gene: CREB3L3 as ready
Mendeliome v0.7774 CREB3L3 Zornitza Stark Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7774 CREB3L3 Zornitza Stark Phenotypes for gene: CREB3L3 were changed from Hyperlipidaemia; hypertriglyceridemia to Hypertriglyceridaemia-2, MIM#619324
Mendeliome v0.7773 CREB3L3 Zornitza Stark reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertriglyceridaemia-2, MIM#619324; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dyslipidaemia v0.22 CREB3L3 Zornitza Stark Phenotypes for gene: CREB3L3 were changed from Hypertriglyceridaemia to Hypertriglyceridaemia-2, MIM#619324
Dyslipidaemia v0.21 CREB3L3 Zornitza Stark Publications for gene: CREB3L3 were set to
Dyslipidaemia v0.20 CREB3L3 Zornitza Stark reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertriglyceridemia-2, MIM#619324; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.111 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3803 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3802 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Deafness_IsolatedAndComplex v1.73 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Deafness_IsolatedAndComplex v1.72 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Cataract v0.278 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Cataract v0.277 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Mendeliome v0.7773 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Mendeliome v0.7772 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Mendeliome v0.7772 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Feafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Genetic Epilepsy v0.1092 SCN9A Elena Savva reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33216760; Phenotypes: monogenic human epilepsy disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7772 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Mendeliome v0.7772 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Mendeliome v0.7772 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350; Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
Mendeliome v0.7771 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7770 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 1, MIM# 177200, Pseudohypoaldosteronism, type I, MIM# 264350, Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliary Dyskinesia v1.9 SCNN1B Zornitza Stark Classified gene: SCNN1B as Amber List (moderate evidence)
Ciliary Dyskinesia v1.9 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v1.8 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7770 FGB Zornitza Stark Marked gene: FGB as ready
Mendeliome v0.7770 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
Mendeliome v0.7770 FGB Zornitza Stark Phenotypes for gene: FGB were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenaemia, congenital, MIM# 616004
Mendeliome v0.7769 FGB Zornitza Stark Publications for gene: FGB were set to
Mendeliome v0.7768 FGB Zornitza Stark Mode of inheritance for gene: FGB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7767 FGB Zornitza Stark changed review comment from: Inherited disorders of fibrinogen affect either the quantity (afibrinogenaemia and hypofibrinogenaemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both.

Afibrinogenaemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenaemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial haemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. First-trimester pregnancy loss is common. Both arterial and venous thromboembolic complications have been reported. Hypofibrinogenaemia is a milder disorder. Well established gene-disease association.; to: Inherited disorders of fibrinogen affect either the quantity (afibrinogenaemia and hypofibrinogenaemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both.

Afibrinogenaemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenaemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial haemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. First-trimester pregnancy loss is common. Both arterial and venous thromboembolic complications have been reported. Hypofibrinogenaemia is a milder disorder.

Well established gene-disease association.
Mendeliome v0.7767 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12393540, 16195396; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenaemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Marked gene: FGB as ready
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.260 FGB Zornitza Stark Phenotypes for gene: FGB were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Bleeding and Platelet Disorders v0.259 FGB Zornitza Stark Publications for gene: FGB were set to
Bleeding and Platelet Disorders v0.258 FGB Zornitza Stark Mode of inheritance for gene: FGB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.257 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12393540, 16195396; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7767 F9 Zornitza Stark Marked gene: F9 as ready
Mendeliome v0.7767 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Mendeliome v0.7767 F9 Zornitza Stark Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807
Mendeliome v0.7766 F9 Zornitza Stark Publications for gene: F9 were set to
Mendeliome v0.7765 F9 Zornitza Stark Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7764 F9 Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 34015304, 33656538; Phenotypes: Haemophilia B, MIM# 306900, Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.257 F9 Zornitza Stark Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432
Bleeding and Platelet Disorders v0.256 F9 Zornitza Stark Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Marked gene: F9 as ready
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.255 F9 Zornitza Stark Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807
Bleeding and Platelet Disorders v0.254 F9 Zornitza Stark Publications for gene: F9 were set to
Bleeding and Platelet Disorders v0.253 F9 Zornitza Stark Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.252 F9 Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 34015304, 33656538; Phenotypes: Haemophilia B, MIM# 306900, Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7764 F8 Zornitza Stark Marked gene: F8 as ready
Mendeliome v0.7764 F8 Zornitza Stark Gene: f8 has been classified as Green List (High Evidence).
Mendeliome v0.7764 F8 Zornitza Stark Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700; MONDO:0010602
Mendeliome v0.7763 F8 Zornitza Stark Publications for gene: F8 were set to
Mendeliome v0.7762 F8 Zornitza Stark Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7761 F8 Zornitza Stark reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: 2986011, 3097553; Phenotypes: Haemophilia A, MIM# 306700, MONDO:0010602; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.252 F8 Zornitza Stark Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700 to Haemophilia A, MIM# 306700; MONDO:0010602
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Marked gene: F8 as ready
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Gene: f8 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.251 F8 Zornitza Stark Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700
Bleeding and Platelet Disorders v0.250 F8 Zornitza Stark Publications for gene: F8 were set to
Bleeding and Platelet Disorders v0.249 F8 Zornitza Stark Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.248 F8 Zornitza Stark reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: 2986011, 3097553; Phenotypes: Haemophilia A, MIM# 306700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7761 F7 Zornitza Stark Marked gene: F7 as ready
Mendeliome v0.7761 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Mendeliome v0.7761 F7 Zornitza Stark Phenotypes for gene: F7 were changed from to Factor VII deficiency, MIM# 227500; MONDO:0009211
Mendeliome v0.7760 F7 Zornitza Stark Publications for gene: F7 were set to
Mendeliome v0.7759 F7 Zornitza Stark Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7758 F7 Zornitza Stark reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12181036; Phenotypes: Factor VII deficiency, MIM# 227500, MONDO:0009211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Marked gene: F7 as ready
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.248 F7 Zornitza Stark Phenotypes for gene: F7 were changed from to Factor VII deficiency, MIM# 227500; MONDO:0009211
Bleeding and Platelet Disorders v0.247 F7 Zornitza Stark Publications for gene: F7 were set to
Bleeding and Platelet Disorders v0.246 F7 Zornitza Stark Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.245 F7 Zornitza Stark reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12181036; Phenotypes: Factor VII deficiency, MIM# 227500, MONDO:0009211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7758 F5 Zornitza Stark Marked gene: F5 as ready
Mendeliome v0.7758 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Mendeliome v0.7758 F5 Zornitza Stark Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Mendeliome v0.7757 F5 Zornitza Stark Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7756 F5 Zornitza Stark reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Marked gene: F5 as ready
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Gene: f5 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.245 F5 Zornitza Stark Phenotypes for gene: F5 were changed from to Factor V deficiency, MIM# 227400; MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055; MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Bleeding and Platelet Disorders v0.244 F5 Zornitza Stark Mode of inheritance for gene: F5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.243 F5 Zornitza Stark reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400, MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055, MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.243 F13A1 Zornitza Stark Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187
Mendeliome v0.7756 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Mendeliome v0.7756 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Mendeliome v0.7756 F13A1 Zornitza Stark Phenotypes for gene: F13A1 were changed from to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187
Mendeliome v0.7755 F13A1 Zornitza Stark Publications for gene: F13A1 were set to
Mendeliome v0.7754 F13A1 Zornitza Stark Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7753 F13A1 Zornitza Stark reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1644910, 7727776, 10027709, 33802692, 32060721; Phenotypes: Factor XIIIA deficiency, MIM# 613225, MONDO:0013187; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.242 F13A1 Zornitza Stark Publications for gene: F13A1 were set to
Bleeding and Platelet Disorders v0.241 F13A1 Zornitza Stark Mode of inheritance for gene: F13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.240 F13A1 Zornitza Stark reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1644910, 7727776, 10027709, 33802692, 32060721; Phenotypes: Factor XIIIA deficiency, MIM# 613225, MONDO:0013187; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7753 F10 Zornitza Stark Marked gene: F10 as ready
Mendeliome v0.7753 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Mendeliome v0.7753 F10 Zornitza Stark Phenotypes for gene: F10 were changed from to Factor X deficiency, MIM# 227600; MONDO:0009212
Mendeliome v0.7752 F10 Zornitza Stark Publications for gene: F10 were set to
Mendeliome v0.7751 F10 Zornitza Stark Mode of inheritance for gene: F10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7750 F10 Zornitza Stark Deleted their comment
Mendeliome v0.7750 F10 Zornitza Stark commented on gene: F10: Factor X deficiency shows variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal haemorrhage, menorrhagia, haematuria, and occasionally haemarthrosis. More than 20 unrelated families reported.
Mendeliome v0.7750 F10 Zornitza Stark reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: None; Publications: 2790181, 2567188, 10746568, 12028042; Phenotypes: Factor X deficiency, MIM# 227600, MONDO:0009212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Marked gene: F10 as ready
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Gene: f10 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.240 F10 Zornitza Stark Phenotypes for gene: F10 were changed from to Factor X deficiency, MIM# 227600; MONDO:0009212
Bleeding and Platelet Disorders v0.239 F10 Zornitza Stark Publications for gene: F10 were set to
Bleeding and Platelet Disorders v0.238 F10 Zornitza Stark Mode of inheritance for gene: F10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.237 F10 Zornitza Stark edited their review of gene: F10: Changed phenotypes: Factor X deficiency, MIM# 227600, MONDO:0009212
Bleeding and Platelet Disorders v0.237 F10 Zornitza Stark reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: None; Publications: 2790181, 2567188, 10746568, 12028042; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark Marked gene: MCM7 as ready
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark Gene: mcm7 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark gene: MCM7 was added
gene: MCM7 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to RED
Added comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Microcephaly v1.20 MCM7 Zornitza Stark Marked gene: MCM7 as ready
Microcephaly v1.20 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.20 MCM7 Zornitza Stark Classified gene: MCM7 as Amber List (moderate evidence)
Microcephaly v1.20 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.19 MCM7 Zornitza Stark gene: MCM7 was added
gene: MCM7 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to AMBER
Added comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Mendeliome v0.7750 MCM7 Zornitza Stark Marked gene: MCM7 as ready
Mendeliome v0.7750 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7750 MCM7 Zornitza Stark Classified gene: MCM7 as Amber List (moderate evidence)
Mendeliome v0.7750 MCM7 Zornitza Stark Gene: mcm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7749 MCM7 Arina Puzriakova gene: MCM7 was added
gene: MCM7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to AMBER
Added comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present.
------
Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment.
Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.26 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Ocular and Oculocutaneous Albinism v0.25 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Ocular and Oculocutaneous Albinism v0.24 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.23 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076, MONDO:0013559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7749 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Mendeliome v0.7749 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Mendeliome v0.7749 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Mendeliome v0.7748 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Mendeliome v0.7747 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7746 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076, MONDO:0013559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.237 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7, MIM# 614076 to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Bleeding and Platelet Disorders v0.236 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from to Hermansky-Pudlak syndrome 7, MIM# 614076
Bleeding and Platelet Disorders v0.235 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Bleeding and Platelet Disorders v0.234 DTNBP1 Zornitza Stark Mode of inheritance for gene: DTNBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.233 DTNBP1 Zornitza Stark reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12923531, 23364359, 28259707, 30990103; Phenotypes: Hermansky-Pudlak syndrome 7, MIM# 614076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.194 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Polydactyly v0.194 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Polydactyly v0.194 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from to Greig cephalopolysyndactyly syndrome, MIM# 175700; Pallister-Hall syndrome, MIM# 146510; Polydactyly, postaxial, types A1 and B, MIM# 174200; Polydactyly, preaxial, type IV, MIM# 174700
Polydactyly v0.193 GLI3 Zornitza Stark Publications for gene: GLI3 were set to
Polydactyly v0.192 GLI3 Arina Puzriakova reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32591344; Phenotypes: Greig cephalopolysyndactyly syndrome, MIM# 175700, Pallister-Hall syndrome, MIM# 146510, Polydactyly, postaxial, types A1 and B, MIM# 174200, Polydactyly, preaxial, type IV, MIM# 174700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.23 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Ocular and Oculocutaneous Albinism v0.22 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Ocular and Oculocutaneous Albinism v0.21 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.20 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077, MONDO:0013560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7746 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Mendeliome v0.7746 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Mendeliome v0.7746 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Mendeliome v0.7745 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Mendeliome v0.7744 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7743 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077, MONDO:0013560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.233 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from Hermansky-Pudlak syndrome 8, MIM# 614077 to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Bleeding and Platelet Disorders v0.232 BLOC1S3 Zornitza Stark Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077
Bleeding and Platelet Disorders v0.231 BLOC1S3 Zornitza Stark Publications for gene: BLOC1S3 were set to
Bleeding and Platelet Disorders v0.230 BLOC1S3 Zornitza Stark Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 BLOC1S3 Zornitza Stark reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385460, 22709368, 32687635; Phenotypes: Hermansky-Pudlak syndrome 8, MIM# 614077; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v0.20 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Ocular and Oculocutaneous Albinism v0.19 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Ocular and Oculocutaneous Albinism v0.18 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v0.17 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Mendeliome v0.7743 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Mendeliome v0.7743 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Mendeliome v0.7743 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Mendeliome v0.7742 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Mendeliome v0.7741 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7740 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.229 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Bleeding and Platelet Disorders v0.228 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336
Bleeding and Platelet Disorders v0.228 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Bleeding and Platelet Disorders v0.227 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.221 Zornitza Stark removed gene:TGFBR3 from the panel
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Marked gene: LHCGR as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Gene: lhcgr has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.194 LHCGR Zornitza Stark Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.193 LHCGR Zornitza Stark Publications for gene: LHCGR were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.192 LHCGR Zornitza Stark Mode of inheritance for gene: LHCGR was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.191 LHCGR Zornitza Stark reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.206 LHCGR Zornitza Stark Marked gene: LHCGR as ready
Differences of Sex Development v0.206 LHCGR Zornitza Stark Gene: lhcgr has been classified as Green List (High Evidence).
Differences of Sex Development v0.206 LHCGR Zornitza Stark Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Precocious puberty, male, (MIM#176410)
Differences of Sex Development v0.205 LHCGR Zornitza Stark Publications for gene: LHCGR were set to
Differences of Sex Development v0.204 LHCGR Zornitza Stark Mode of inheritance for gene: LHCGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Differences of Sex Development v0.203 LHCGR Zornitza Stark reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320), Precocious puberty, male, (MIM#176410); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7740 LHCGR Zornitza Stark Marked gene: LHCGR as ready
Mendeliome v0.7740 LHCGR Zornitza Stark Gene: lhcgr has been classified as Green List (High Evidence).
Mendeliome v0.7740 LHCGR Zornitza Stark Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320); Precocious puberty, male, (MIM#176410)
Mendeliome v0.7739 LHCGR Zornitza Stark Publications for gene: LHCGR were set to
Mendeliome v0.7738 LHCGR Zornitza Stark Mode of inheritance for gene: LHCGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal neuromuscular disease v0.36 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.35 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome
Gastrointestinal neuromuscular disease v0.34 MYH11 Zornitza Stark edited their review of gene: MYH11: Changed phenotypes: Visceral myopathy 2, MIM# 619350, Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, Dominant smooth muscle dysmotility syndrome
Mendeliome v0.7737 NEB Zornitza Stark Publications for gene: NEB were set to 25205138
Mendeliome v0.7736 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive 256030 to Nemaline myopathy 2, autosomal recessive 256030; MONDO:0009725; Arthrogryposis multiplex congenita 6, MIM# 619334
Arthrogryposis v0.271 NEB Zornitza Stark Marked gene: NEB as ready
Arthrogryposis v0.271 NEB Zornitza Stark Gene: neb has been classified as Green List (High Evidence).
Arthrogryposis v0.271 NEB Zornitza Stark Phenotypes for gene: NEB were changed from to Arthrogryposis multiplex congenita 6, MIM# 619334
Mendeliome v0.7735 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.270 NEB Zornitza Stark Publications for gene: NEB were set to
Arthrogryposis v0.269 NEB Zornitza Stark Mode of inheritance for gene: NEB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.268 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7735 LHCGR Ain Roesley reviewed gene: LHCGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11041448; Phenotypes: Luteinizing hormone resistance, female, (MIM#238320), Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320), Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320), Precocious puberty, male, (MIM#176410); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7735 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Mendeliome v0.7735 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Mendeliome v0.7735 GEMIN5 Zornitza Stark Classified gene: GEMIN5 as Green List (high evidence)
Mendeliome v0.7735 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Mendeliome v0.7734 GEMIN5 Zornitza Stark gene: GEMIN5 was added
gene: GEMIN5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Classified gene: GEMIN5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3801 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3800 GEMIN5 Zornitza Stark gene: GEMIN5 was added
gene: GEMIN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy.

30 individuals from 22 unrelated families reported.
Sources: Literature
Mendeliome v0.7733 ANO6 Zornitza Stark Marked gene: ANO6 as ready
Mendeliome v0.7733 ANO6 Zornitza Stark Gene: ano6 has been classified as Green List (High Evidence).
Mendeliome v0.7733 ANO6 Zornitza Stark Phenotypes for gene: ANO6 were changed from to Scott syndrome, MIM# 262890; MONDO:0009885
Mendeliome v0.7732 ANO6 Zornitza Stark Publications for gene: ANO6 were set to
Mendeliome v0.7731 ANO6 Zornitza Stark Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7730 ANO6 Zornitza Stark reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21107324, 11895776, 27879994, 27634832; Phenotypes: Scott syndrome, MIM# 262890, MONDO:0009885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark edited their review of gene: ANO6: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Marked gene: ANO6 as ready
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Gene: ano6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.226 ANO6 Zornitza Stark Phenotypes for gene: ANO6 were changed from to Scott syndrome, MIM# 262890; MONDO:0009885
Bleeding and Platelet Disorders v0.225 ANO6 Zornitza Stark Publications for gene: ANO6 were set to
Bleeding and Platelet Disorders v0.224 ANO6 Zornitza Stark Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.223 ANO6 Zornitza Stark edited their review of gene: ANO6: Changed phenotypes: Scott syndrome, MIM# 262890, MONDO:0009885
Bleeding and Platelet Disorders v0.223 ANO6 Zornitza Stark reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21107324, 11895776, 27879994, 27634832; Phenotypes: Scott syndrome, MIM# 262890; Mode of inheritance: None
Hypertension and Aldosterone disorders v1.0 Zornitza Stark promoted panel to version 1.0
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Marked gene: WNK4 as ready
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Gene: wnk4 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Phenotypes for gene: WNK4 were changed from to Pseudohypoaldosteronism, type IIB, MIM# 614491
Hypertension and Aldosterone disorders v0.48 WNK4 Zornitza Stark Publications for gene: WNK4 were set to
Hypertension and Aldosterone disorders v0.47 WNK4 Zornitza Stark Mode of inheritance for gene: WNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.46 WNK4 Zornitza Stark reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 31044551; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM# 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Phenotypes for gene: SCNN1G were changed from to Liddle syndrome 2, MIM# 618114; Pseudohypoaldosteronism, type I, MIM# 264350
Hypertension and Aldosterone disorders v0.45 SCNN1G Zornitza Stark Mode of inheritance for gene: SCNN1G was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.44 SCNN1G Zornitza Stark reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 2, MIM# 618114, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350
Hypertension and Aldosterone disorders v0.43 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.42 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 1, MIM# 177200, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.74 TRIO Zornitza Stark Marked gene: TRIO as ready
Macrocephaly_Megalencephaly v0.74 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.74 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.73 TRIO Zornitza Stark Classified gene: TRIO as Green List (high evidence)
Macrocephaly_Megalencephaly v0.73 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.105 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Early-onset Parkinson disease v0.105 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.105 PINK1 Zornitza Stark Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset MIM#605909
Early-onset Parkinson disease v0.104 PINK1 Zornitza Stark Publications for gene: PINK1 were set to
Early-onset Parkinson disease v0.103 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.72 TRIO Elena Savva commented on gene: TRIO: LOF = microcephaly, GOF = macrocephaly

PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly

PTCs = LOF

PMID: 32109419 - 7/9 patients with global dev delay also had macrocephaly
Macrocephaly_Megalencephaly v0.72 TRIO Elena Savva gene: TRIO was added
gene: TRIO was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIO were set to PMID: 32109419; 28928363
Phenotypes for gene: TRIO were set to Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825
Mode of pathogenicity for gene: TRIO was set to Other
Review for gene: TRIO was set to GREEN
Added comment: LOF = microcephaly, GOF = macrocephaly

PMID: 32109419: Missense within the GEFD1 domain have lost the ability to bind RAC1 (LOF) causing microcephaly, (with p.P1461L the exception). Missense within the 7th spectrin repeat cause increased RAC1 activation (GOF) causing macrocephaly

PTCs = LOF
Sources: Literature
Early-onset Parkinson disease v0.102 PINK1 Elena Savva reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28980524; Phenotypes: Parkinson disease 6, early onset MIM#605909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7730 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
Mendeliome v0.7730 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Mendeliome v0.7730 KLHL3 Zornitza Stark Phenotypes for gene: KLHL3 were changed from to Pseudohypoaldosteronism, type IID, MIM# 614495
Mendeliome v0.7729 KLHL3 Zornitza Stark Publications for gene: KLHL3 were set to
Mendeliome v0.7728 KLHL3 Zornitza Stark Mode of inheritance for gene: KLHL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7727 KLHL3 Zornitza Stark reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 22406640, 24821705, 34022862, 32462939; Phenotypes: Pseudohypoaldosteronism, type IID, MIM# 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Phenotypes for gene: KLHL3 were changed from to Pseudohypoaldosteronism, type IID, MIM# 614495
Hypertension and Aldosterone disorders v0.41 KLHL3 Zornitza Stark Publications for gene: KLHL3 were set to
Hypertension and Aldosterone disorders v0.40 KLHL3 Zornitza Stark Mode of inheritance for gene: KLHL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.39 KLHL3 Zornitza Stark reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 22406640, 24821705, 34022862, 32462939; Phenotypes: Pseudohypoaldosteronism, type IID, MIM# 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7727 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Mendeliome v0.7727 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Green List (High Evidence).
Mendeliome v0.7727 KCNJ5 Zornitza Stark Classified gene: KCNJ5 as Green List (high evidence)
Mendeliome v0.7727 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Green List (High Evidence).
Mendeliome v0.7726 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ5 were set to 21311022; 22203740; 24420545; 24574546
Phenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677
Review for gene: KCNJ5 was set to GREEN
Added comment: Association with hyperaldosteronism: At least 5 unrelated families reported.

Association with Long QT: disputed.
Sources: Expert Review
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, MIM# 613677
Incidentalome v0.68 Zornitza Stark removed gene:KCNJ5 from the panel
Hypertension and Aldosterone disorders v0.38 KCNJ5 Zornitza Stark Publications for gene: KCNJ5 were set to
Hypertension and Aldosterone disorders v0.37 KCNJ5 Zornitza Stark Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.36 KCNJ5 Zornitza Stark reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21311022, 22203740, 24420545, 24574546]; Phenotypes: Hyperaldosteronism, familial, type III, MIM# 613677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7725 HSD11B2 Zornitza Stark Marked gene: HSD11B2 as ready
Mendeliome v0.7725 HSD11B2 Zornitza Stark Gene: hsd11b2 has been classified as Green List (High Evidence).
Mendeliome v0.7725 HSD11B2 Zornitza Stark Phenotypes for gene: HSD11B2 were changed from to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025
Mendeliome v0.7724 HSD11B2 Zornitza Stark Publications for gene: HSD11B2 were set to
Mendeliome v0.7723 HSD11B2 Zornitza Stark Mode of inheritance for gene: HSD11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7722 HSD11B2 Zornitza Stark reviewed gene: HSD11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670488, 9683587, 17314322; Phenotypes: Apparent mineralocorticoid excess, MIM# 218030, MONDO:0009025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Marked gene: HSD11B2 as ready
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Gene: hsd11b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Phenotypes for gene: HSD11B2 were changed from to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025
Hypertension and Aldosterone disorders v0.35 HSD11B2 Zornitza Stark Publications for gene: HSD11B2 were set to
Hypertension and Aldosterone disorders v0.34 HSD11B2 Zornitza Stark Mode of inheritance for gene: HSD11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.33 HSD11B2 Zornitza Stark reviewed gene: HSD11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670488, 9683587, 17314322; Phenotypes: Apparent mineralocorticoid excess, MIM# 218030, MONDO:0009025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7722 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Mendeliome v0.7722 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Mendeliome v0.7722 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Leukoencephalopathy with ataxia, MIM# 615651; Hyperaldosteronism, familial, type II, MIM# 605635
Mendeliome v0.7721 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Mendeliome v0.7720 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7719 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29403011, 29403012, 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM# 615651, Hyperaldosteronism, familial, type II, MIM# 605635; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Hyperaldosteronism, familial, type II 605635
Hypertension and Aldosterone disorders v0.32 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.

Note bi-allelic variants cause a different phenotype.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark edited their review of gene: CLCN2: Changed publications: 29403011, 29403012
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark commented on gene: CLCN2: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7719 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Mendeliome v0.7719 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Mendeliome v0.7719 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200; Sinoatrial node dysfunction and deafness, MIM# 614896
Mendeliome v0.7718 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Mendeliome v0.7717 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7716 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913001, 32336187, 30698561, 21131953, 15357422, 22678062; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, MONDO:0014200, Sinoatrial node dysfunction and deafness, MIM# 614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200
Hypertension and Aldosterone disorders v0.29 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Hypertension and Aldosterone disorders v0.28 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.27 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913001, 32336187, 30698561; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, MONDO:0014200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.149 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Autism v0.149 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Red List (Low Evidence).
Autism v0.149 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Autism spectrum disorder
Autism v0.148 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Autism v0.147 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.146 CACNA1H Zornitza Stark Classified gene: CACNA1H as Red List (low evidence)
Autism v0.146 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Red List (Low Evidence).
Mendeliome v0.7716 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Mendeliome v0.7716 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Green List (High Evidence).
Mendeliome v0.7716 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Hyperaldosteronism, familial, type IV MIM#617027; MONDO:0014875
Mendeliome v0.7715 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Mendeliome v0.7714 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7713 CACNA1H Zornitza Stark reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: None; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027, MONDO:0014875; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.27 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from Hyperaldosteronism, familial, type IV MIM#617027 to Hyperaldosteronism, familial, type IV MIM#617027; MONDO:0014875
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Hyperaldosteronism, familial, type IV MIM#617027
Hypertension and Aldosterone disorders v0.25 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Hypertension and Aldosterone disorders v0.24 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.630 COX16 Zornitza Stark Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Mitochondrial disease v0.629 COX16 Zornitza Stark reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7713 COX16 Zornitza Stark Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Mendeliome v0.7712 COX16 Zornitza Stark reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3799 NSF Zornitza Stark Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.3798 NSF Zornitza Stark edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability
Genetic Epilepsy v0.1092 NSF Zornitza Stark Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Genetic Epilepsy v0.1091 NSF Zornitza Stark edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability
Mendeliome v0.7712 NSF Zornitza Stark Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, MIM# 619340; Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability
Mendeliome v0.7711 NSF Zornitza Stark edited their review of gene: NSF: Changed phenotypes: Developmental and epileptic encephalopathy 96, MIM# 619340, Seizures, EEG with burst suppression, Global developmental delay, Intellectual disability
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Marked gene: IPO8 as ready
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Disorders of immune dysregulation v0.81 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.80 IPO8 Zornitza Stark gene: IPO8 was added
gene: IPO8 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604
Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities
Review for gene: IPO8 was set to GREEN
Added comment: 12 individuals from 9 unrelated families in a cohort with bi-allelic IPO8 variants. Variants were nonsense/splice and some missense. Patients displayed a phenotype reminiscent of Loeys Dietz syndrome that variably combined cardiovascular, neurologic, skeletal and immunologic abnormalities along with dysmorphic features. Western blot on patient cells (4 individuals) showed reduced IPO8 expression. Disruption of IPO8 homologue in zebrafish associated with cardiac anomalies. Transcriptome analysis in zebrafish showed that IPO8-deficient zebrafish had abnormal TGFbeta pathway expression.
Sources: Literature
Aortopathy_Connective Tissue Disorders v1.34 IPO8 Zornitza Stark Publications for gene: IPO8 were set to
Aortopathy_Connective Tissue Disorders v1.33 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.33 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.32 IPO8 Zornitza Stark reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34010604; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7711 IPO8 Zornitza Stark Publications for gene: IPO8 were set to
Mendeliome v0.7710 IPO8 Zornitza Stark Classified gene: IPO8 as Green List (high evidence)
Mendeliome v0.7710 IPO8 Zornitza Stark Gene: ipo8 has been classified as Green List (High Evidence).
Mendeliome v0.7709 IPO8 Zornitza Stark edited their review of gene: IPO8: Changed rating: GREEN; Changed publications: 34010604
Intellectual disability syndromic and non-syndromic v0.3798 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Intellectual disability syndromic and non-syndromic v0.3798 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3798 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Mitochondrial disease v0.629 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Mitochondrial disease v0.629 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.629 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Intellectual disability syndromic and non-syndromic v0.3797 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Mitochondrial disease v0.628 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Intellectual disability syndromic and non-syndromic v0.3796 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3795 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.627 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7709 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Mendeliome v0.7709 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.626 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7709 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Mendeliome v0.7708 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Mendeliome v0.7707 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7706 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Classified gene: NFU1 as Green List (high evidence)
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.4 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFU1 were set to 22077971; 25918518; 28470589; 31516295; 32669393; 31461310
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Pulmonary hypertension in early infancy
Review for gene: NFU1 was set to GREEN
Added comment: Biallelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe neonatal onset disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, leukodystrophy, lactic acidosis, and early death.

More than 50% of infant patients are found to display significant PAH, which can initially be an isolated and prominent finding (PMID: 22077971; 25918518; 28470589; 31516295; 32669393). Pulmonary samples from NFU1-deficient individuals with PAH showed obstructive vasculopathy with proximal and acinar arterial involvement (PMID: 22077971).

Humanised rare model of NFU1 deficiency showed features of mitochondrial dysfunction comparable to those observed in patients and also developed PAH (PMID: 31461310)
Sources: Expert list
Mendeliome v0.7706 RAB11B Zornitza Stark commented on gene: RAB11B: NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem.
Genetic Epilepsy v0.1091 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Genetic Epilepsy v0.1091 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1091 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Genetic Epilepsy v0.1090 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Genetic Epilepsy v0.1089 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1088 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3795 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Intellectual disability syndromic and non-syndromic v0.3795 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.222 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3795 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Intellectual disability syndromic and non-syndromic v0.3794 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Intellectual disability syndromic and non-syndromic v0.3793 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3792 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7706 RAB11B Zornitza Stark Marked gene: RAB11B as ready
Mendeliome v0.7706 RAB11B Zornitza Stark Gene: rab11b has been classified as Green List (High Evidence).
Mendeliome v0.7706 RAB11B Zornitza Stark Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Mendeliome v0.7705 RAB11B Zornitza Stark Publications for gene: RAB11B were set to
Mendeliome v0.7704 RAB11B Zornitza Stark Mode of inheritance for gene: RAB11B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7703 RAB11B Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7703 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Mendeliome v0.7703 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Mendeliome v0.7703 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from to Neurodevelopmental disorder; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Mendeliome v0.7702 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to
Mendeliome v0.7701 UFSP2 Zornitza Stark Mode of inheritance for gene: UFSP2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7700 UFSP2 Zornitza Stark changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all. Additional cases identified through the 100,000 Genomes project.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.
Mendeliome v0.7700 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.3792 UFSP2 Zornitza Stark Classified gene: UFSP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3792 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3791 UFSP2 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.3791 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Added comment: Additional cases identified in 100,000 Genomes project.; Changed rating: GREEN; Changed phenotypes: Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1088 UFSP2 Zornitza Stark reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1088 UFSP2 Zornitza Stark Classified gene: UFSP2 as Green List (high evidence)
Genetic Epilepsy v0.1088 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.7700 KLHL13 Zornitza Stark Marked gene: KLHL13 as ready
Mendeliome v0.7700 KLHL13 Zornitza Stark Gene: klhl13 has been classified as Red List (Low Evidence).
Mendeliome v0.7700 KLHL13 Zornitza Stark gene: KLHL13 was added
gene: KLHL13 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL13 were set to 24627108
Phenotypes for gene: KLHL13 were set to HMSN
Review for gene: KLHL13 was set to RED
Added comment: Single family (two affected males) with an inherited peripheral neuropathy, no functional analysis.
Sources: Expert Review
Hereditary Neuropathy_CMT - isolated v0.208 KLHL13 Zornitza Stark Marked gene: KLHL13 as ready
Hereditary Neuropathy_CMT - isolated v0.208 KLHL13 Zornitza Stark Gene: klhl13 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.208 KLHL13 Zornitza Stark Mode of inheritance for gene: KLHL13 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.207 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Hereditary Neuropathy_CMT - isolated v0.207 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.207 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492 to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309
Hereditary Neuropathy_CMT - isolated v0.206 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Hereditary Neuropathy_CMT - isolated v0.205 WNK1 Zornitza Stark reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15060842, 15911806, 15455397, 16534117; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300, MONDO:0024309; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7699 PRX Zornitza Stark Marked gene: PRX as ready
Mendeliome v0.7699 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Mendeliome v0.7699 PRX Zornitza Stark Phenotypes for gene: PRX were changed from to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900
Mendeliome v0.7698 PRX Zornitza Stark Publications for gene: PRX were set to
Mendeliome v0.7697 PRX Zornitza Stark Mode of inheritance for gene: PRX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7696 PRX Zornitza Stark reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.205 PRX Zornitza Stark Marked gene: PRX as ready
Hereditary Neuropathy_CMT - isolated v0.205 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.205 PRX Zornitza Stark Publications for gene: PRX were set to
Hereditary Neuropathy_CMT - isolated v0.204 PRX Zornitza Stark changed review comment from: Both mono-allelic and bi-allelic variants are associated with neuropathy.; to: Predominantly bi-allelic variants are associated with neuropathy, rare reports of mono-allelic variants.
Hereditary Neuropathy_CMT - isolated v0.204 PRX Zornitza Stark reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.204 PRPS1 Zornitza Stark Mode of inheritance for gene: PRPS1 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, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.203 PRPS1 Zornitza Stark Publications for gene: PRPS1 were set to
Hereditary Neuropathy_CMT - isolated v0.202 PRPS1 Zornitza Stark reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17701900, 24285972, 25491489, 25182139; Phenotypes: Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7696 PLEKHG5 Zornitza Stark Marked gene: PLEKHG5 as ready
Mendeliome v0.7696 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Green List (High Evidence).
Mendeliome v0.7696 PLEKHG5 Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from to Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Mendeliome v0.7695 PLEKHG5 Zornitza Stark Publications for gene: PLEKHG5 were set to
Mendeliome v0.7694 PLEKHG5 Zornitza Stark Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7693 PLEKHG5 Zornitza Stark reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564964, 23777631, 23844677, 33492783, 33275839, 33220101, 23777631; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.202 PLEKHG5 Zornitza Stark Marked gene: PLEKHG5 as ready
Hereditary Neuropathy_CMT - isolated v0.202 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.202 PLEKHG5 Zornitza Stark Phenotypes for gene: PLEKHG5 were changed from HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
Hereditary Neuropathy_CMT - isolated v0.201 PLEKHG5 Zornitza Stark Publications for gene: PLEKHG5 were set to
Hereditary Neuropathy_CMT - isolated v0.200 PLEKHG5 Zornitza Stark reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564964, 23777631, 23844677, 33492783, 33275839, 33220101, 23777631; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7693 NEFL Zornitza Stark Marked gene: NEFL as ready
Mendeliome v0.7693 NEFL Zornitza Stark Gene: nefl has been classified as Green List (High Evidence).
Mendeliome v0.7693 NEFL Zornitza Stark Phenotypes for gene: NEFL were changed from to Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684
Mendeliome v0.7692 NEFL Zornitza Stark Publications for gene: NEFL were set to
Mendeliome v0.7691 NEFL Zornitza Stark Mode of inheritance for gene: NEFL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7690 NEFL Zornitza Stark reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: None; Publications: 10841809, 12393795, 14733962, 24887401, 25877835, 20039262, 12566280, 29191368, 28902413; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.200 NEFL Zornitza Stark Marked gene: NEFL as ready
Hereditary Neuropathy_CMT - isolated v0.200 NEFL Zornitza Stark Gene: nefl has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.200 NEFL Zornitza Stark Publications for gene: NEFL were set to
Hereditary Neuropathy_CMT - isolated v0.199 NEFL Zornitza Stark reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: None; Publications: 10841809, 12393795, 14733962, 24887401, 25877835, 20039262, 12566280, 29191368, 28902413; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.199 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Hereditary Neuropathy_CMT - isolated v0.199 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.199 MORC2 Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; HMSN to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; MONDO:0014736
Hereditary Neuropathy_CMT - isolated v0.198 MORC2 Zornitza Stark Publications for gene: MORC2 were set to
Hereditary Neuropathy_CMT - isolated v0.197 MORC2 Zornitza Stark Mode of inheritance for gene: MORC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.196 MORC2 Zornitza Stark edited their review of gene: MORC2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, MONDO:0014736
Hereditary Neuropathy_CMT - isolated v0.196 MORC2 Zornitza Stark reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26497905, 26659848, 28771897, 27105897; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.196 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Hereditary Neuropathy_CMT - isolated v0.196 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.196 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot Marie Tooth disease, axonal, type 20, 614228 to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Hereditary Neuropathy_CMT - isolated v0.195 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Hereditary Neuropathy_CMT - isolated v0.194 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.193 DYNC1H1 Zornitza Stark reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820100, 32788638, 27549087; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.193 LMNA Zornitza Stark Marked gene: LMNA as ready
Hereditary Neuropathy_CMT - isolated v0.193 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.193 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN to Charcot-Marie-Tooth disease, type 2B1 , MIM#605588
Hereditary Neuropathy_CMT - isolated v0.192 LMNA Zornitza Stark Publications for gene: LMNA were set to
Hereditary Neuropathy_CMT - isolated v0.191 LMNA Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.191 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.190 LMNA Zornitza Stark changed review comment from: Founder variant p.Arg298Cys (c.892C>T) reported in 3 families, supportive functional data, plus another case reported as part of a large CMT cohort.; to: Founder variant p.Arg298Cys (c.892C>T) reported in 3 families, supportive functional data, plus another case reported as part of a large CMT cohort

Note mono allelic variants in this gene cause a range of phenotypes.
Hereditary Neuropathy_CMT - isolated v0.190 LMNA Zornitza Stark reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: None; Publications: 11799477, 28902413; Phenotypes: Charcot-Marie-Tooth disease, type 2B1 , MIM#605588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.145 ADNP Zornitza Stark Marked gene: ADNP as ready
Autism v0.145 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Autism v0.145 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Autism v0.144 ADNP Zornitza Stark Publications for gene: ADNP were set to
Autism v0.143 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.142 ADNP Zornitza Stark reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491, 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3791 ADNP Zornitza Stark Marked gene: ADNP as ready
Intellectual disability syndromic and non-syndromic v0.3791 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3791 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Intellectual disability syndromic and non-syndromic v0.3790 ADNP Zornitza Stark Publications for gene: ADNP were set to
Intellectual disability syndromic and non-syndromic v0.3789 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3788 ADNP Zornitza Stark reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491, 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7690 ADNP Zornitza Stark Marked gene: ADNP as ready
Mendeliome v0.7690 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Mendeliome v0.7690 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Mendeliome v0.7689 ADNP Zornitza Stark Publications for gene: ADNP were set to
Mendeliome v0.7688 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7687 ADNP Zornitza Stark reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7687 ADNP Elena Savva reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7687 CHUK Zornitza Stark Marked gene: CHUK as ready
Mendeliome v0.7687 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7687 CHUK Zornitza Stark Phenotypes for gene: CHUK were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome
Mendeliome v0.7686 CHUK Zornitza Stark Publications for gene: CHUK were set to
Mendeliome v0.7685 CHUK Zornitza Stark Mode of inheritance for gene: CHUK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7684 CHUK Zornitza Stark Classified gene: CHUK as Amber List (moderate evidence)
Mendeliome v0.7684 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7683 CHUK Zornitza Stark reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.58 DES Zornitza Stark Tag for review tag was added to gene: DES.
Arrhythmogenic Cardiomyopathy v0.58 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic Cardiomyopathy v0.57 PLN Zornitza Stark Publications for gene: PLN were set to 22820313
Arrhythmogenic Cardiomyopathy v0.56 TMEM43 Zornitza Stark Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986; 29980933
Arrhythmogenic Cardiomyopathy v0.55 TMEM43 Zornitza Stark Tag founder tag was added to gene: TMEM43.
Arrhythmogenic Cardiomyopathy v0.55 JUP Zornitza Stark Publications for gene: JUP were set to 16722579; 17924338
Arrhythmogenic Cardiomyopathy v0.54 DSC2 Zornitza Stark Publications for gene: DSC2 were set to 17963498; 21062920; 23863954; 17186466; 18957847; 17033975; 28339476
Arrhythmogenic Cardiomyopathy v0.53 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.52 DSG2 Zornitza Stark Publications for gene: DSG2 were set to
Arrhythmogenic Cardiomyopathy v0.51 DES Ivan Macciocca reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.51 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Carvajal syndrome
Arrhythmogenic Cardiomyopathy v0.50 DSP Zornitza Stark Publications for gene: DSP were set to 15941723; 25765472; 23954618; 20864495; 21397041; 24938629; 22240500
Arrhythmogenic Cardiomyopathy v0.49 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.48 DSP Zornitza Stark edited their review of gene: DSP: Added comment: Association of bi-allelic variants and Carvajal syndrome is also well established (ARVC, woolly hair, PPK), although ClinGen have only assessed association between mono-allelic variants and ARVC.; Changed publications: 15941723, 25765472, 23954618, 20864495, 21397041, 24938629, 22240500, 31073624, 30345701, 11063735; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.48 PLN Ivan Macciocca edited their review of gene: PLN: Added comment: MODERATE evidence for ARVC, as reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308). Common Dutch founder mutation PLN Arg14del.; Changed publications: ARVC
Arrhythmogenic Cardiomyopathy v0.48 PKP2 Zornitza Stark Publications for gene: PKP2 were set to
Arrhythmogenic Cardiomyopathy v0.47 TMEM43 Ivan Macciocca edited their review of gene: TMEM43: Set current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.47 TMEM43 Ivan Macciocca reviewed gene: TMEM43: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None
Arrhythmogenic Cardiomyopathy v0.47 JUP Ivan Macciocca reviewed gene: JUP: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC, Naxos disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.47 DSP Ivan Macciocca edited their review of gene: DSP: Changed phenotypes: ARVC, palmoplantar keratoderma, wool hair, Carvajal syndrome
Arrhythmogenic Cardiomyopathy v0.47 DSC2 Ivan Macciocca reviewed gene: DSC2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic Cardiomyopathy v0.47 DSG2 Ivan Macciocca reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None
Arrhythmogenic Cardiomyopathy v0.47 DSP Ivan Macciocca reviewed gene: DSP: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.47 PKP2 Ivan Macciocca reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.7683 TMEM251 Zornitza Stark Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex‐like skeletal dysplasia; severe short stature to Dysostosis multiplex, Ain-Naz type 619345
Mendeliome v0.7682 TMEM251 Zornitza Stark reviewed gene: TMEM251: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysostosis multiplex, Ain-Naz type 619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.103 TMEM251 Zornitza Stark Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex‐like skeletal dysplasia; severe short stature to Dysostosis multiplex, Ain-Naz type 619345
Skeletal dysplasia v0.102 TMEM251 Zornitza Stark reviewed gene: TMEM251: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysostosis multiplex, Ain-Naz type 619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7682 PARP6 Zornitza Stark Mode of inheritance for gene: PARP6 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7681 PARP6 Zornitza Stark edited their review of gene: PARP6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7681 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Mendeliome v0.7681 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Mendeliome v0.7681 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Mendeliome v0.7681 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Mendeliome v0.7680 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PARP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Microcephaly v1.18 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Microcephaly v1.18 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Microcephaly v1.18 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Microcephaly v1.18 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Microcephaly v1.17 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Microcephaly v1.17 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Microcephaly v1.16 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Genetic Epilepsy v0.1087 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1086 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Marked gene: PARP6 as ready
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Classified gene: PARP6 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3788 PARP6 Zornitza Stark Gene: parp6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3787 PARP6 Zornitza Stark gene: PARP6 was added
gene: PARP6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289
Phenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: PARP6 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.190 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Hereditary Neuropathy_CMT - isolated v0.190 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.190 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from HMSN; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482 to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Hereditary Neuropathy_CMT - isolated v0.189 DNM2 Zornitza Stark Publications for gene: DNM2 were set to
Hereditary Neuropathy_CMT - isolated v0.188 DNM2 Zornitza Stark edited their review of gene: DNM2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482, Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482, MONDO:0011674
Hereditary Neuropathy_CMT - isolated v0.188 DNM2 Zornitza Stark reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15731758, 17636067, 33459893, 31628461; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482, Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7679 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Mendeliome v0.7679 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Mendeliome v0.7679 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Mendeliome v0.7678 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Mendeliome v0.7677 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7676 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Ciliopathies v0.281 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Ciliopathies v0.280 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Ciliopathies v0.279 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.278 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.150 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Renal Ciliopathies and Nephronophthisis v0.149 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Renal Ciliopathies and Nephronophthisis v0.148 MAPKBP1 Zornitza Stark Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.147 MAPKBP1 Zornitza Stark reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.188 DCTN1 Zornitza Stark Marked gene: DCTN1 as ready
Hereditary Neuropathy_CMT - isolated v0.188 DCTN1 Zornitza Stark Gene: dctn1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.188 DCTN1 Zornitza Stark Phenotypes for gene: DCTN1 were changed from HMSN, dHMN/dSMA; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641 to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879
Hereditary Neuropathy_CMT - isolated v0.187 DCTN1 Zornitza Stark Publications for gene: DCTN1 were set to
Hereditary Neuropathy_CMT - isolated v0.186 DCTN1 Zornitza Stark reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627231, 15326253, 33443672, 32023010, 27573046; Phenotypes: Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641, MONDO:0011879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Adult v0.148 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Additional findings_Adult v0.148 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Additional findings_Adult v0.148 RPE65 Zornitza Stark Classified gene: RPE65 as Green List (high evidence)
Additional findings_Adult v0.148 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Additional findings_Adult v0.147 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RPE65 were set to 34012068
Phenotypes for gene: RPE65 were set to RPE-related retinopathy
Review for gene: RPE65 was set to GREEN
Added comment: Included in ACMG V3.0 SF list, available gene therapy may be more effective earlier in disease.
Sources: Expert list
Additional findings_Adult v0.146 HNF1A Zornitza Stark Marked gene: HNF1A as ready
Additional findings_Adult v0.146 HNF1A Zornitza Stark Gene: hnf1a has been classified as Green List (High Evidence).
Additional findings_Adult v0.146 HNF1A Zornitza Stark Classified gene: HNF1A as Green List (high evidence)
Additional findings_Adult v0.146 HNF1A Zornitza Stark Gene: hnf1a has been classified as Green List (High Evidence).
Additional findings_Adult v0.145 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1A were set to 34012068
Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496
Review for gene: HNF1A was set to GREEN
Added comment: Included in ACMG V3.0 SF list, accounts for 30-50% of known MODY cases likely to respond to high dose sulfonylureas; early treatment may prevent complications.
Sources: Expert list
Additional findings_Adult v0.144 ENG Zornitza Stark Marked gene: ENG as ready
Additional findings_Adult v0.144 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Additional findings_Adult v0.144 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Additional findings_Adult v0.144 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Additional findings_Adult v0.143 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 34012068
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Review for gene: ENG was set to GREEN
Added comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention.
Sources: Expert list
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Additional findings_Adult v0.142 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Additional findings_Adult v0.141 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 34012068
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention.
Sources: Expert list
Additional findings_Adult v0.140 GAA Zornitza Stark Marked gene: GAA as ready
Additional findings_Adult v0.140 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Additional findings_Adult v0.140 GAA Zornitza Stark Classified gene: GAA as Green List (high evidence)
Additional findings_Adult v0.140 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Additional findings_Adult v0.139 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 34012068
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300; Pompe disease
Review for gene: GAA was set to GREEN
Added comment: Included in ACMG V3.0 SF list, presentation can be in adulthood, effective enzyme replacement therapy available.
Sources: Expert list
Additional findings_Adult v0.138 BTD Zornitza Stark Marked gene: BTD as ready
Additional findings_Adult v0.138 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Additional findings_Adult v0.138 BTD Zornitza Stark Classified gene: BTD as Green List (high evidence)
Additional findings_Adult v0.138 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Additional findings_Adult v0.137 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 34012068
Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM# 253260
Review for gene: BTD was set to GREEN
Added comment: Included in ACMG SF V3.0, clinical presentation can be in adulthood, features can be non-specific, highly effective treatment available.
Sources: Expert list
Additional findings_Adult v0.136 TTN Zornitza Stark Marked gene: TTN as ready
Additional findings_Adult v0.136 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Additional findings_Adult v0.136 TTN Zornitza Stark Classified gene: TTN as Green List (high evidence)
Additional findings_Adult v0.136 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Additional findings_Adult v0.135 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to 34012068
Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM# 604145
Review for gene: TTN was set to GREEN
Added comment: Included in ACMG V3.0 SF list, risk fo sudden death with preventative interventions available.

We note the difficulty in interpreting variants in this gene: truncating variants with previously established pathogenicity to be reported only.
Sources: Expert list
Additional findings_Adult v0.134 TRDN Zornitza Stark Marked gene: TRDN as ready
Additional findings_Adult v0.134 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Additional findings_Adult v0.134 TRDN Zornitza Stark Classified gene: TRDN as Green List (high evidence)
Additional findings_Adult v0.134 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Additional findings_Adult v0.133 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 34012068
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Review for gene: TRDN was set to GREEN
Added comment: Included in ACMG SF V3.0 list, risk of sudden death with preventative interventions available
Sources: Expert list
Additional findings_Adult v0.132 FLNC Zornitza Stark Marked gene: FLNC as ready
Additional findings_Adult v0.132 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Additional findings_Adult v0.132 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Additional findings_Adult v0.132 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Additional findings_Adult v0.131 FLNC Zornitza Stark gene: FLNC was added
gene: FLNC was added to Additional findings_Adult. 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 34012068
Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
Review for gene: FLNC was set to GREEN
Added comment: Included in ACMG SF V3.0, risk of sudden death with preventative interventions available.
Sources: Expert list
Additional findings_Adult v0.129 Zornitza Stark Panel types changed to Melbourne Genomics; Australian Genomics
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Classified gene: CASQ2 as Green List (high evidence)
Additional findings_Adult v0.128 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.127 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASQ2 were set to 34012068
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Review for gene: CASQ2 was set to GREEN
Added comment: Included in ACMG SF V3.0 list as risk fo sudden death with preventative interventions available.
Sources: Expert list
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Classified gene: TMEM127 as Green List (high evidence)
Additional findings_Adult v0.126 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Additional findings_Adult v0.125 TMEM127 Zornitza Stark gene: TMEM127 was added
gene: TMEM127 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM127 were set to 34012068
Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to} 171300
Review for gene: TMEM127 was set to GREEN
Added comment: Included in ACMG V3.0 SF list as penetrance met threshold to include with other PGL/PCC genes.
Sources: Expert list
Additional findings_Adult v0.124 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Additional findings_Adult v0.124 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.124 PALB2 Zornitza Stark Classified gene: PALB2 as Green List (high evidence)
Additional findings_Adult v0.124 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Additional findings_Adult v0.123 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PALB2 were set to 34012068
Phenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480
Review for gene: PALB2 was set to GREEN
Added comment: Included in ACMG V3.0 as risk of breast cancer meets penetrance threshold.
Sources: Expert list
Additional findings_Adult v0.122 MAX Zornitza Stark Marked gene: MAX as ready
Additional findings_Adult v0.122 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Additional findings_Adult v0.122 MAX Zornitza Stark Classified gene: MAX as Green List (high evidence)
Additional findings_Adult v0.122 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Additional findings_Adult v0.121 MAX Zornitza Stark gene: MAX was added
gene: MAX was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 34012068
Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to} 171300
Review for gene: MAX was set to GREEN
Added comment: Recommended on ACMG V3.0 list as penetrance met threshold to include with other PGL/PCC genes.
Sources: Expert list
Cone-rod Dystrophy v0.23 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Cone-rod retinopathy; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Cone-rod retinopathy; cardiomyopathy
Cone-rod Dystrophy v0.22 SLC6A6 Zornitza Stark edited their review of gene: SLC6A6: Changed phenotypes: Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350, Early retinal degeneration, cardiomyopathy
Mendeliome v0.7676 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy
Dilated Cardiomyopathy v1.2 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy
Dilated Cardiomyopathy v1.1 SLC6A6 Zornitza Stark edited their review of gene: SLC6A6: Changed phenotypes: Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350, Early retinal degeneration, cardiomyopathy
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Konstantinos Varvagiannis changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

**Monoallelic** (correction to previous review) UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Genetic Epilepsy v0.1085 UFSP2 Konstantinos Varvagiannis changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

**Monoallelic** (correction to previous review) UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Mendeliome v0.7675 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Mendeliome v0.7675 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Mendeliome v0.7675 DNAJB2 Zornitza Stark Phenotypes for gene: DNAJB2 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; MONDO:0014866
Mendeliome v0.7674 DNAJB2 Zornitza Stark Publications for gene: DNAJB2 were set to
Mendeliome v0.7673 DNAJB2 Zornitza Stark Mode of inheritance for gene: DNAJB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7672 DNAJB2 Zornitza Stark reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522442, 25274842, 33369814, 22522442; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881, MONDO:0014866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.186 DNAJB2 Zornitza Stark Phenotypes for gene: DNAJB2 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881 to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881; MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.185 DNAJB2 Zornitza Stark Publications for gene: DNAJB2 were set to
Hereditary Neuropathy_CMT - isolated v0.184 DNAJB2 Zornitza Stark edited their review of gene: DNAJB2: Changed phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881, MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.184 DNAJB2 Zornitza Stark reviewed gene: DNAJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522442, 25274842, 33369814, 22522442; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 5, MIM# 614881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7672 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome, 304150; X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; Spinal muscular atrophy, distal, X-linked 3, MIM# 300489
Mendeliome v0.7671 ATP7A Zornitza Stark Publications for gene: ATP7A were set to 21221114
Mendeliome v0.7670 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336; Phenotypes: Menkes disease MIM#309400, Occipital horn syndrome MIM#304150, Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.184 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Hereditary Neuropathy_CMT - isolated v0.184 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.184 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Spinal muscular atrophy, distal, X-linked 3; dHMN/dSMA to Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.183 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Hereditary Neuropathy_CMT - isolated v0.182 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336; Phenotypes: Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy_CMT - isolated v0.182 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Hereditary Neuropathy_CMT - isolated v0.182 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.182 ATP1A1 Zornitza Stark Phenotypes for gene: ATP1A1 were changed from Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 to Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036; MONDO:0054833
Hereditary Neuropathy_CMT - isolated v0.181 ATP1A1 Zornitza Stark Publications for gene: ATP1A1 were set to
Hereditary Neuropathy_CMT - isolated v0.180 ATP1A1 Zornitza Stark Mode of inheritance for gene: ATP1A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.179 ATP1A1 Zornitza Stark reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29499166; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2DD, MIM# 618036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.102 UFSP2 Zornitza Stark Phenotypes for gene: UFSP2 were changed from Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 to Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Skeletal dysplasia v0.101 UFSP2 Zornitza Stark Publications for gene: UFSP2 were set to 28892125; 26428751
Skeletal dysplasia v0.100 UFSP2 Zornitza Stark Mode of inheritance for gene: UFSP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.99 UFSP2 Zornitza Stark Classified gene: UFSP2 as Amber List (moderate evidence)
Skeletal dysplasia v0.99 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.98 UFSP2 Zornitza Stark reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26428751, 28892125, 32755715; Phenotypes: Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7670 UFSP2 Zornitza Stark changed review comment from: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: single 3-generation family reported.; to: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)]. Likely founder variant in all.

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.
Mendeliome v0.7670 UFSP2 Zornitza Stark edited their review of gene: UFSP2: Changed publications: 33473208, 26428751, 28892125, 32755715
Mendeliome v0.7670 UFSP2 Zornitza Stark reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33473208, 26428751, 28892125; Phenotypes: Neurodevelopmental disorder, Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Classified gene: UFSP2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1085 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1084 UFSP2 Zornitza Stark Tag founder tag was added to gene: UFSP2.
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Marked gene: UFSP2 as ready
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Added comment: Comment when marking as ready: Amber rating as single, likely founder variant.
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Tag founder tag was added to gene: UFSP2.
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Classified gene: UFSP2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3786 UFSP2 Zornitza Stark Gene: ufsp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7670 TRPV6 Zornitza Stark Marked gene: TRPV6 as ready
Mendeliome v0.7670 TRPV6 Zornitza Stark Gene: trpv6 has been classified as Green List (High Evidence).
Mendeliome v0.7670 TRPV6 Zornitza Stark Phenotypes for gene: TRPV6 were changed from to Hyperparathyroidism, transient neonatal, MIM# 618188; Early onset chronic pancreatitis susceptibility
Mendeliome v0.7669 TRPV6 Zornitza Stark Publications for gene: TRPV6 were set to
Mendeliome v0.7668 TRPV6 Zornitza Stark Mode of inheritance for gene: TRPV6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7667 TRPV6 Zornitza Stark reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383311, 31930989, 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188, Early onset chronic pancreatitis susceptibility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1084 UFSP2 Konstantinos Varvagiannis gene: UFSP2 was added
gene: UFSP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFSP2 were set to 33473208
Phenotypes for gene: UFSP2 were set to Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus
Penetrance for gene: UFSP2 were set to Complete
Review for gene: UFSP2 was set to AMBER
Added comment: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3785 UFSP2 Konstantinos Varvagiannis gene: UFSP2 was added
gene: UFSP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UFSP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFSP2 were set to 33473208
Phenotypes for gene: UFSP2 were set to Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus
Penetrance for gene: UFSP2 were set to Complete
Review for gene: UFSP2 was set to AMBER
Added comment: Ni et al (2021 - PMID: 33473208) describe the phenotype of 8 children (belonging to 4 families - 2 of which consanguineous) homozygous for a UFSP2 missense variant [NM_018359.5:c.344T>A; p.(Val115Glu)].

Members of a broader consanguineous pedigree from Pakistan with 3 affected children with epilepsy and DD and ID underwent exome sequencing. All affected individuals were homozygous for the specific SNV with their parents (2 parent pairs, in both cases first cousins) being heterozygous. An unaffected sib was homozygous for the wt allele. Through genematching platforms 3 additional families with similarly affected individuals and homozygosity for the same variant were recruited. These additional families were from Pakistan (1/3) and Afganistan (2/3).

Based on ROH analysis from the broader first pedigree and an additional family the authors concluded on a single shared region of homozygosity on chr 4q. Lack of ES data did not allow verification of whether 2/4 families shared the same haplotype with the other 2.

The authors calculated the probability of the genotype-phenotype cosegragation occurring by chance (0.009) and this was lower than the recommended criterion (0.06) for strong evidence of pathogenicity.

Shared features included abnormal tone in most (hypotonia 6/8, limb hypertonia 1/8), seizures (8/8 - onset 2d - 7m), severe DD with speech delay/absent speech (8/8), ID (8/8), strabismus (6/8).

UFSP2 encodes UFM1-specific protease 2 involved in UFmylation, a post-translational protein modification. As summarized by the authors the cysteine protease encoded by this gene (as is also the case for UFSP1) cleaves UFM1 in the initial step of UFMylation. Apart from producing mature UFM1, the 2 proteases have also the ability to release UFM1 from UFMylated proteins, in the process of de-UFMylation. [several refs. provided]

UFMylation is important in brain development with mutations in genes encoding other components of the pathway reported in other NDD disorders (incl. UFM1, UBA5, UFC1).

Additional studies were carried to provide evidence for pathogenicity of this variant.

Skin biopsies from 3 individuals were carried out to establish fibroblast cultures. Immunoblotting revealed reduced UFSP2 levels relative to controls. mRNA levels measured by qRT-PCR revealed no differences compared to controls altogether suggesting normal mRNA but reduced protein stability.

The authors demonstrated increased levels of UFM1-conjugated proteins (incl. DDRGK1, or TRIP4). Ectopic expression of wt UFSP2 normalized the levels of UFMylated proteins in the fibroblasts which was not the case for the V115E variant. Further the variant was difficult to detect by immunoblotting consistent with an effect on protein destabilization.

Although disruption of UFMylation induces ER stress, this was not shown to occur in patient fibroblast lines, when assessed for ER stress markers.

Evaluation of data from the GTEx project, concerning UFSP2 as well as well as DDRGK1 or TRIP4 - an UFMylation target - revealed relevant expression in multiple regions of the human brain.

Overall the authors provide evidence for defective de-UFMylation in patient fibroblasts (presence of increased UFMylation marks). The authors stress out that the effect of the variant in UFMylation in brain is unknown, as UFSP1 or other enzymes might compensate in the presence of hypomorphic UFSP2 mutants.

Biallelic UFSP2 variants have previously been reported in 2 skeletal dysplasias [# 142669. BEUKES HIP DYSPLASIA; BHD and # 617974. SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR]. These disorders are not characterized by neurological dysfunction or epilepsy. The authors underscore the fact that variants identified in these disorders (Y290H, D526A, H428R) localize within the C-terminal catalytic (peptidase) domain [aa 278 – 461] while the variant here identified lies in the N-terminal substrate binding domain affecting protein stability/abundance.

In OMIM, only the 2 aforementioned disorders are currently associated with biallelic UFSP2 mutations. There is no associated phenotype in G2P. SysID includes UFSP2 among the primary ID genes.

You may consider inclusion in the current panel with amber/green rating.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v1.13 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 to Cataracts, spastic paraparesis, and speech delay, MIM#619338; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Hereditary Spastic Paraplegia - paediatric v1.12 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed rating: GREEN; Changed phenotypes: Cataracts, spastic paraparesis, and speech delay, MIM#619338; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3785 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; 33239752 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338
Intellectual disability syndromic and non-syndromic v0.3784 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, Cataracts, spastic paraparesis, and speech delay, MIM#619338
Peroxisomal Disorders v0.20 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); spastic paraparesis and bilateral cataracts to Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154); Cataracts, spastic paraparesis, and speech delay, MIM#619338
Peroxisomal Disorders v0.19 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Cataracts, spastic paraparesis, and speech delay, MIM#619338
Mendeliome v0.7667 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; spastic paraparesis and bilateral cataracts to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338
Mendeliome v0.7666 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154, Cataracts, spastic paraparesis, and speech delay, MIM#619338
Cataract v0.277 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 to Cataracts, spastic paraparesis, and speech delay, MIM#619338; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Cataract v0.276 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154, Cataracts, spastic paraparesis, and speech delay, MIM#619338
Mendeliome v0.7666 CLDN11 Zornitza Stark Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy-22, MIM#619328
Mendeliome v0.7665 CLDN11 Zornitza Stark reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy-22, MIM#619328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.222 CLDN11 Zornitza Stark Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy-22, MIM#619328
Leukodystrophy - paediatric v0.221 CLDN11 Zornitza Stark reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy-22, MIM#619328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3784 BICRA Zornitza Stark Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Intellectual disability syndromic and non-syndromic v0.3783 BICRA Zornitza Stark reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome-12, MIM#619325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.142 BICRA Zornitza Stark Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Autism v0.141 BICRA Zornitza Stark reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome-12, MIM#619325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7665 BICRA Zornitza Stark Phenotypes for gene: BICRA were changed from Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features to Coffin-Siris syndrome-12, MIM#619325; Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Mendeliome v0.7664 BICRA Zornitza Stark reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome-12, MIM#619325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.67 MBD4 Zornitza Stark Marked gene: MBD4 as ready
Incidentalome v0.67 MBD4 Zornitza Stark Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.67 MBD4 Zornitza Stark Classified gene: MBD4 as Amber List (moderate evidence)
Incidentalome v0.67 MBD4 Zornitza Stark Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.66 MBD4 Zornitza Stark gene: MBD4 was added
gene: MBD4 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBD4 were set to https://www.biorxiv.org/content/10.1101/2021.04.27.441137v1.full.pdf
Phenotypes for gene: MBD4 were set to AML and colorectal polyps; MBD4-associated neoplasia syndrome
Review for gene: MBD4 was set to AMBER
Added comment: Three individuals reported with bi-allelic LOF and rare combination of AML and adenomatous colorectal polyps.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v0.179 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Hereditary Neuropathy_CMT - isolated v0.179 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.179 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from Episodic pain syndrome, familial, 3, 615552; HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type VII, 615548 to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; MONDO:0014244
Hereditary Neuropathy_CMT - isolated v0.178 SCN11A Zornitza Stark Publications for gene: SCN11A were set to
Hereditary Neuropathy_CMT - isolated v0.177 SCN11A Zornitza Stark reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24036948, 25118027, 30395542, 33884296, 32831372, 30046661; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autonomic neuropathy v0.48 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from OMIM# 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Autonomic neuropathy v0.47 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Autonomic neuropathy v0.46 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Additional findings_Paediatric v0.219 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Additional findings_Paediatric v0.218 RETREG1 Zornitza Stark Classified gene: RETREG1 as Green List (high evidence)
Additional findings_Paediatric v0.218 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.217 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.26 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Pain syndromes v0.26 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Pain syndromes v0.26 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Pain syndromes v0.25 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to 19838196; 21115472; 24327336
Pain syndromes v0.24 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7664 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Mendeliome v0.7664 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Mendeliome v0.7664 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Mendeliome v0.7663 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Mendeliome v0.7662 RETREG1 Zornitza Stark Mode of inheritance for gene: RETREG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7661 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.177 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Hereditary Neuropathy_CMT - isolated v0.177 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.177 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Hereditary Neuropathy_CMT - isolated v0.176 RETREG1 Zornitza Stark edited their review of gene: RETREG1: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142
Hereditary Neuropathy_CMT - isolated v0.176 RETREG1 Zornitza Stark edited their review of gene: RETREG1: Changed publications: 19838196, 24327336, 31737055, 31596031
Hereditary Neuropathy_CMT - isolated v0.176 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3783 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from Charcot-Marie-Tooth disease, type 4B3, MIM# 615284 to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284; MONDO:0014117
Intellectual disability syndromic and non-syndromic v0.3782 SBF1 Zornitza Stark edited their review of gene: SBF1: Changed phenotypes: Charcot-Marie-Tooth disease, type 4B3, MIM# 615284, MONDO:0014117
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Classified gene: SBF1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Mendeliome v0.7661 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Mendeliome v0.7661 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.109 SBF1 Zornitza Stark gene: SBF1 was added
gene: SBF1 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF1 were set to 23749797; 23749797; 32444983; 30039846; 28005197
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Review for gene: SBF1 was set to GREEN
Added comment: At least 5 unrelated families reported. Some with isolated neuropathy and others with additional neurological and syndromic features, including DD/ID and congenital anomalies.
Sources: Expert Review
Mendeliome v0.7661 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Mendeliome v0.7660 SBF1 Zornitza Stark Publications for gene: SBF1 were set to
Mendeliome v0.7659 SBF1 Zornitza Stark Mode of inheritance for gene: SBF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7658 SBF1 Zornitza Stark reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749797, 23749797, 32444983, 30039846, 28005197; Phenotypes: Charcot-Marie-Tooth disease, type 4B3 , MIM#615284, MONDO:0014117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.176 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Hereditary Neuropathy_CMT - isolated v0.176 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.176 SBF1 Zornitza Stark Phenotypes for gene: SBF1 were changed from Charcot-Marie-Tooth disease, type 4B3, 615284; HMSN to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Hereditary Neuropathy_CMT - isolated v0.175 SBF1 Zornitza Stark Publications for gene: SBF1 were set to
Hereditary Neuropathy_CMT - isolated v0.174 SBF1 Zornitza Stark reviewed gene: SBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23749797, 23749797, 32444983, 30039846, 28005197; Phenotypes: Charcot-Marie-Tooth disease, type 4B3 , MIM#615284, MONDO:0014117; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7658 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Mendeliome v0.7658 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Mendeliome v0.7658 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563
Mendeliome v0.7657 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Mendeliome v0.7656 SBF2 Zornitza Stark Mode of inheritance for gene: SBF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7655 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.174 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Hereditary Neuropathy_CMT - isolated v0.174 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.174 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from HMSN; Charcot Marie Tooth disease, type 4B2, 604563 to HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563
Hereditary Neuropathy_CMT - isolated v0.173 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Hereditary Neuropathy_CMT - isolated v0.172 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7655 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Mendeliome v0.7655 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Mendeliome v0.7655 SCN10A Zornitza Stark Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, MIM# 615551
Mendeliome v0.7654 SCN10A Zornitza Stark Publications for gene: SCN10A were set to
Mendeliome v0.7653 SCN10A Zornitza Stark Mode of inheritance for gene: SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7652 SCN10A Zornitza Stark reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.24 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Pain syndromes v0.24 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Pain syndromes v0.24 SCN10A Zornitza Stark Phenotypes for gene: SCN10A were changed from Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 to Small fibre neuropathy; Episodic pain syndrome, familial, 2, MIM# 615551
Pain syndromes v0.23 SCN10A Zornitza Stark Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307
Pain syndromes v0.22 SCN10A Zornitza Stark reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.172 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Hereditary Neuropathy_CMT - isolated v0.172 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.172 SCN10A Zornitza Stark Publications for gene: SCN10A were set to
Hereditary Neuropathy_CMT - isolated v0.171 SCN10A Zornitza Stark reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23115331, 33775738, 30731422, 30554136; Phenotypes: Episodic pain syndrome, familial, 2, MIM# 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Angelman Rett like syndromes v0.48 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Angelman Rett like syndromes v0.47 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.46 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392, 27062609; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Stroke v1.0 Zornitza Stark promoted panel to version 1.0
Stroke v0.101 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Stroke v0.101 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Stroke v0.101 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Stroke v0.101 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Stroke v0.101 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Vasculopathy, retinal, with cerebral leukodystrophy to Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315
Stroke v0.100 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.100 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Stroke v0.100 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Stroke v0.100 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from Stormorken syndrome to Stormorken syndrome, MIM# 185070
Stroke v0.99 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stormorken syndrome, MIM# 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.99 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Stroke v0.99 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Stroke v0.99 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
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Marked gene: MYCN as ready
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
Macrocephaly_Megalencephaly v0.72 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Mendeliome v0.7652 KCNA2 Elena Savva reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33802230, 29050392; Phenotypes: Developmental and epileptic encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7652 MYCN Kristin Rigbye reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21224895, 8470948; Phenotypes: Feingold syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.71 MYCN Kristin Rigbye gene: MYCN was added
gene: MYCN was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCN were set to 30573562
Phenotypes for gene: MYCN were set to Neurodevelopmental disorder with megalencephaly
Mode of pathogenicity for gene: MYCN 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: MYCN was set to RED
Added comment: Single report of a de novo missense p.T58M in an individual with a novel megalencephaly syndrome, a Japanese boy with an intellectual disability (ID), distinctive facies, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, postnatal growth retardation, postaxial polydactyly and neuroblastoma.

Biochemical and cell biology experiments revealed that the mutation renders MYCN resistant to proteolysis and may improperly potentiate cortical neuron proliferation. MYCN activity regulates granule neuron proliferation through induction of CCND1 and CCND2, and this syndrome was similar to CCND2 gene abnormalities that impart excessive protein stability cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This residue is also frequently mutated in c-Myc in Burkitt’s lymphoma (also due to GoF by gene amplification), consistent with its functions in cell proliferation and differentiation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3782 TBC1D2B Zornitza Stark Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Intellectual disability syndromic and non-syndromic v0.3781 TBC1D2B Zornitza Stark reviewed gene: TBC1D2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1084 TBC1D2B Zornitza Stark Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Genetic Epilepsy v0.1083 TBC1D2B Zornitza Stark reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7652 TBC1D2B Zornitza Stark Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323; Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality
Mendeliome v0.7651 TBC1D2B Zornitza Stark edited their review of gene: TBC1D2B: Changed phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323, Global developmental delay, Intellectual disability, Seizures, Gingival overgrowth, Behavioral abnormality, Abnormality of the mandible, Abnormality of brain morphology, Abnormality of the eye, Hearing abnormality
Mendeliome v0.7651 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
Mendeliome v0.7651 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Green List (High Evidence).
Mendeliome v0.7651 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Mendeliome v0.7650 COL5A1 Zornitza Stark Publications for gene: COL5A1 were set to
Mendeliome v0.7649 COL5A1 Zornitza Stark Mode of inheritance for gene: COL5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7648 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 32938213; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.32 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 1, MIM# 130000 to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Aortopathy_Connective Tissue Disorders v1.31 COL5A1 Zornitza Stark Publications for gene: COL5A1 were set to 30071989
Aortopathy_Connective Tissue Disorders v1.30 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32938213; Phenotypes: Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3781 SCN1A Zornitza Stark Marked gene: SCN1A as ready
Intellectual disability syndromic and non-syndromic v0.3781 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3781 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317
Intellectual disability syndromic and non-syndromic v0.3780 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1083 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403 to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Febrile seizures, familial, 3A 604403
Genetic Epilepsy v0.1082 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2 604403, Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208, Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317, Febrile seizures, familial, 3A 604403
Mendeliome v0.7648 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures; Arthrogryposis multiplex congenita to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures; Arthrogryposis multiplex congenita
Mendeliome v0.7647 SCN1A Zornitza Stark edited their review of gene: SCN1A: Changed phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208, Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures, Arthrogryposis multiplex congenita
Intellectual disability syndromic and non-syndromic v0.3780 KDM4B Zornitza Stark Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects
Intellectual disability syndromic and non-syndromic v0.3779 KDM4B Zornitza Stark reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1082 KDM4B Zornitza Stark Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects
Genetic Epilepsy v0.1081 KDM4B Zornitza Stark reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7647 KDM4B Zornitza Stark Phenotypes for gene: KDM4B were changed from Global developmental delay, intellectual disability and neuroanatomical defects to Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Global developmental delay, intellectual disability and neuroanatomical defects
Mendeliome v0.7646 KDM4B Zornitza Stark reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM# 619320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Bone Marrow Failure v0.219 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Bone Marrow Failure v0.218 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.217 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7646 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Mendeliome v0.7646 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Mendeliome v0.7646 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Mendeliome v0.7645 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Mendeliome v0.7644 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7643 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebellar and Pontocerebellar Hypoplasia v1.11 DKC1 Zornitza Stark Publications for gene: DKC1 were set to PMID: 31269755; 26951492; 29081935
Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 COL9A1 Paul De Fazio changed review comment from: Single family with a splice variant, predicted by the authors to result in in-frame exon skipping, reported in 2001 (PMID: 11565064).

A second splice variant was reported in 2017 in an individual with a dual diagnosis of COL9A1 and ATRX (PMID: 27959697). The COL9A1 variant has 19 hets in gnomAD. No phenotypes given in the paper but the individual was reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/374336/evidence/).

Heterozygous mice transfected with a COL9A1 intragenic deletion showed changes similiar to osteoarthritis, as do homozygous null mice (PMID: 8197187, 8464901); to: Single family with a splice variant, predicted by the authors to result in in-frame exon skipping, reported in 2001 (PMID: 11565064). Variant has 63 hets in gnomAD.

A second splice variant was reported in 2017 in an individual with a dual diagnosis of COL9A1 and ATRX (PMID: 27959697). The COL9A1 variant has 19 hets in gnomAD. No phenotypes given in the paper but the individual was reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/374336/evidence/).

Heterozygous mice transfected with a COL9A1 intragenic deletion showed changes similiar to osteoarthritis, as do homozygous null mice (PMID: 8197187, 8464901)
Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 COL9A1 Paul De Fazio edited their review of gene: COL9A1: Changed rating: AMBER
Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 COL9A1 Paul De Fazio edited their review of gene: COL9A1: Changed publications: 11565064, 27959697, 8197187, 8464901
Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 COL9A1 Paul De Fazio changed review comment from: Only a single family reported in 2001. No additional reports found.; to: Single family with a splice variant, predicted by the authors to result in in-frame exon skipping, reported in 2001 (PMID: 11565064).

A second splice variant was reported in 2017 in an individual with a dual diagnosis of COL9A1 and ATRX (PMID: 27959697). The COL9A1 variant has 19 hets in gnomAD. No phenotypes given in the paper but the individual was reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/374336/evidence/).

Heterozygous mice transfected with a COL9A1 intragenic deletion showed changes similiar to osteoarthritis, as do homozygous null mice (PMID: 8197187, 8464901)
Motor Neurone Disease v0.120 CYLD Bryony Thompson Classified gene: CYLD as Amber List (moderate evidence)
Motor Neurone Disease v0.120 CYLD Bryony Thompson Gene: cyld has been classified as Amber List (Moderate Evidence).
Multiple epiphyseal dysplasia and pseudoachondroplasia v0.3 COL9A1 Paul De Fazio reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: None; Publications: 11565064; Phenotypes: ?Epiphyseal dysplasia, multiple, 6, MIM#614135; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Cerebellar and Pontocerebellar Hypoplasia v1.10 DKC1 Michelle Torres reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25940403; Phenotypes: X-linked dyskeratosis congenita (MIM#305000), Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v1.0 Zornitza Stark promoted panel to version 1.0
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Marked gene: VCL as ready
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Gene: vcl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Phenotypes for gene: VCL were changed from to Cardiomyopathy, dilated, 1W, MIM# 611407
Dilated Cardiomyopathy v0.147 VCL Zornitza Stark Publications for gene: VCL were set to
Dilated Cardiomyopathy v0.146 VCL Zornitza Stark Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.145 VCL Zornitza Stark reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 32516855, 26406308, 26458567, 24062880, 11815424, 17785437; Phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878
Dilated Cardiomyopathy v0.144 TPM1 Zornitza Stark Publications for gene: TPM1 were set to
Dilated Cardiomyopathy v0.143 TPM1 Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.142 TPM1 Zornitza Stark Tag for review tag was added to gene: TPM1.
Dilated Cardiomyopathy v0.142 TPM1 Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11273725, 23147248, 20117437, 15249230, 20215591, 21483645, 31983221, 28600229; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878; Mode of inheritance: None
Dilated Cardiomyopathy v0.142 NEXN Zornitza Stark Tag for review tag was added to gene: NEXN.
Dilated Cardiomyopathy v0.142 TNNI3 Zornitza Stark Tag for review tag was added to gene: TNNI3.
Dilated Cardiomyopathy v0.142 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369 to Cardiomyopathy, dilated, 1FF, MIM#613286
Dilated Cardiomyopathy v0.141 TNNI3 Zornitza Stark Publications for gene: TNNI3 were set to 15607392
Dilated Cardiomyopathy v0.140 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.139 TNNI3 Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM#613286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Marked gene: NEXN as ready
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Cardiomyopathy, dilated, 1CC, MIM# 613122
Dilated Cardiomyopathy v0.138 NEXN Zornitza Stark Publications for gene: NEXN were set to
Dilated Cardiomyopathy v0.137 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.136 NEXN Zornitza Stark reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19881492, 28416588, 25163546, 27532257, 24503780, 29540472, 26659360; Phenotypes: Cardiomyopathy, dilated, 1CC, MIM# 613122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.136 JPH2 Zornitza Stark Publications for gene: JPH2 were set to PMID: 31227780
Dilated Cardiomyopathy v0.135 JPH2 Zornitza Stark Mode of inheritance for gene: JPH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.134 JPH2 Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.134 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.133 JPH2 Zornitza Stark changed review comment from: Gene is also associated with HCM.

Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; to: Gene is also associated with HCM.

Several families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.

MODERATE by ClinGen.
Dilated Cardiomyopathy v0.133 JPH2 Zornitza Stark edited their review of gene: JPH2: Added comment: Gene is also associated with HCM.

Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; Changed rating: AMBER; Changed publications: 29540472, 31227780, 29165669, 27471098, 30384889, 31227780, 10949023, 23715556; Changed phenotypes: Dilated cardiomyopathy; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.12 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation type II
Congenital Disorders of Glycosylation v1.11 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to 32884905
Congenital Disorders of Glycosylation v1.10 SLC37A4 Zornitza Stark Classified gene: SLC37A4 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.10 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.119 CYLD Bryony Thompson gene: CYLD was added
gene: CYLD was added to Motor Neurone Disease. Sources: Literature
Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYLD were set to 32666117; 32666099; 32185393
Phenotypes for gene: CYLD were set to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132
Mode of pathogenicity for gene: CYLD was set to Other
Review for gene: CYLD was set to AMBER
Added comment: Original study (PMID: 32185393) identified a gain of function missense segregating 7 FTD cases (1 also with ALS) and 1 ALS case in an Australian family, that has a previously identified linkage peak in this region. Extensive genomic studies were conducted to exclude structural variation and repeats as causes. Supporting immunohistochemical evidence in brain tissue and extensive in vitro assays on the missense variant (M719V), showing a different mechanism of disease to loss of function that is associated with cutaneous phenotypes. Also, demonstrated a significant enrichment of rare missense variants in the deubiquitinase domain of CYLD (amino acids 593–948) in an FTD cohort, but not an ALS cohort. A subsequent Portuguese FTD study has identified two missense VUS in 2 FTD cases. Segregation studies or functional studies were not conducted (PMID: 32666117).
Sources: Literature
Congenital Disorders of Glycosylation v1.9 SLC37A4 Kristin Rigbye reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 33728255; Phenotypes: Congenital disorder of glycosylation type II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424
Dilated Cardiomyopathy v0.132 ACTC1 Zornitza Stark Publications for gene: ACTC1 were set to
Dilated Cardiomyopathy v0.131 ACTC1 Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.130 ACTC1 Zornitza Stark Tag for review tag was added to gene: ACTC1.
Dilated Cardiomyopathy v0.130 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 30384889, 9563954, 14605248, 20600154, 26432839; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Marked gene: DSP as ready
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Phenotypes for gene: DSP were changed from to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Dilated Cardiomyopathy v0.129 DSP Zornitza Stark Publications for gene: DSP were set to
Dilated Cardiomyopathy v0.128 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.127 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 24108106; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.127 TTN Zornitza Stark Publications for gene: TTN were set to 22335739; 25589632; 28045975
Dilated Cardiomyopathy v0.126 TTN Zornitza Stark edited their review of gene: TTN: Added comment: DEFINITIVE by ClinGen.; Changed publications: 22335739, 33947203
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Marked gene: TNNT2 as ready
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494
Dilated Cardiomyopathy v0.125 TNNT2 Zornitza Stark Publications for gene: TNNT2 were set to
Dilated Cardiomyopathy v0.124 TNNT2 Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.123 TNNT2 Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 11106718, 20978592, 20031601, 15542288, 17556660; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Dilated Cardiomyopathy v0.122 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; MONDO:0012745
Dilated Cardiomyopathy v0.121 TNNC1 Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.120 TNNC1 Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 31983221, 17977476, 19808376; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.120 RBM20 Zornitza Stark Publications for gene: RBM20 were set to 30871351
Dilated Cardiomyopathy v0.119 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Marked gene: PLN as ready
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909
Dilated Cardiomyopathy v0.118 PLN Zornitza Stark Publications for gene: PLN were set to
Dilated Cardiomyopathy v0.117 PLN Zornitza Stark Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.116 PLN Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262
Dilated Cardiomyopathy v0.115 MYH7 Zornitza Stark Publications for gene: MYH7 were set to
Dilated Cardiomyopathy v0.114 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.113 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21483645, 30874888, 21846512, 30384889, 25935763, 24558114, 27000522, 31179125, 24119082, 27965028, 33947203; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, MONDO:0013262; Mode of inheritance: None
Dilated Cardiomyopathy v0.113 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 1A, MIM# 115200
Dilated Cardiomyopathy v0.112 LMNA Zornitza Stark Publications for gene: LMNA were set to
Dilated Cardiomyopathy v0.111 LMNA Zornitza Stark edited their review of gene: LMNA: Added comment: DEFINITIVE by ClinGen.; Changed rating: GREEN; Changed publications: 33947203; Changed phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.111 FLNC Zornitza Stark Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656
Dilated Cardiomyopathy v0.110 FLNC Zornitza Stark reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Marked gene: DES as ready
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; MONDO:0011482
Dilated Cardiomyopathy v0.109 DES Zornitza Stark Publications for gene: DES were set to
Dilated Cardiomyopathy v0.108 DES Zornitza Stark Mode of inheritance for gene: DES was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.107 DES Zornitza Stark reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, MONDO:0011482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479
Dilated Cardiomyopathy v0.106 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Dilated Cardiomyopathy v0.105 BAG3 Zornitza Stark Mode of inheritance for gene: BAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.104 BAG3 Zornitza Stark edited their review of gene: BAG3: Changed phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881, MONDO:0013479
Dilated Cardiomyopathy v0.104 BAG3 Zornitza Stark reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353195, 25008357, 25448463, 24623017, 27391596, 28211974, 30442290, 31983221, 28737513, 29323723, 33947203; Phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3779 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Intellectual disability syndromic and non-syndromic v0.3779 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3779 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from to Mental retardation, X-linked 12/35 MIM#300957
Intellectual disability syndromic and non-syndromic v0.3778 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Intellectual disability syndromic and non-syndromic v0.3777 THOC2 Zornitza Stark Mode of inheritance for gene: THOC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7643 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Mendeliome v0.7643 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Mendeliome v0.7643 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from to Mental retardation, X-linked 12/35 MIM#300957
Mendeliome v0.7642 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Mendeliome v0.7641 THOC2 Zornitza Stark Mode of inheritance for gene: THOC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Amyloidosis v0.21 FGA Zornitza Stark Publications for gene: FGA were set to PubMed: 8097946; 8639778; 12050338
Amyloidosis v0.20 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Amyloidosis, familial visceral (MIM#105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Marked gene: FGA as ready
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.223 FGA Zornitza Stark Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400)
Bleeding and Platelet Disorders v0.222 FGA Zornitza Stark Publications for gene: FGA were set to
Bleeding and Platelet Disorders v0.221 FGA Zornitza Stark Mode of inheritance for gene: FGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.220 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7640 FGA Zornitza Stark Marked gene: FGA as ready
Mendeliome v0.7640 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Mendeliome v0.7640 FGA Zornitza Stark Phenotypes for gene: FGA were changed from to Afibrinogenemia, congenital (MIM#202400), AR; Amyloidosis, familial visceral (MIM#105200), AD
Mendeliome v0.7639 FGA Zornitza Stark Publications for gene: FGA were set to
Mendeliome v0.7638 FGA Zornitza Stark Mode of inheritance for gene: FGA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3776 THOC2 Paul De Fazio reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480, 32116545, 29851191, 32960281; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.7637 THOC2 Paul De Fazio changed review comment from: Multiple (>10) individuals with neurodevelopmental phenotypes reported with missense, splice, and exon deletion variants. Variants are reported de novo or inherited from a carrier mother. Note that null (whole gene deletion or NMD) variants have not been reported in affected individuals. Arg77Cys appears to be recurrent (reported in multiple individuals).; to: Multiple (>10) males with neurodevelopmental phenotypes reported with missense, splice, and exon deletion variants. Variants are reported de novo or inherited from a carrier mother. Note that null (whole gene deletion or NMD) variants have not been reported in affected individuals. Arg77Cys appears to be recurrent (reported in multiple individuals).
Mendeliome v0.7637 THOC2 Paul De Fazio edited their review of gene: THOC2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7637 THOC2 Paul De Fazio reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480, 32116545, 29851191, 32960281; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.7637 FGA Chern Lim reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31064749, 17295221, 19073821, 11739173; Phenotypes: Afibrinogenemia, congenital (MIM#202400), AR, Amyloidosis, familial visceral (MIM#105200), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.7637 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Mendeliome v0.7637 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Mendeliome v0.7637 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from to Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641
Mendeliome v0.7636 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to
Mendeliome v0.7635 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7634 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152456, 29499165; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029, Corneal dystrophy, posterior polymorphous, 4, MIM# 618031, Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7634 ST14 Zornitza Stark Marked gene: ST14 as ready
Mendeliome v0.7634 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Mendeliome v0.7634 ST14 Zornitza Stark Phenotypes for gene: ST14 were changed from to Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400
Mendeliome v0.7633 ST14 Zornitza Stark Publications for gene: ST14 were set to
Mendeliome v0.7632 ST14 Zornitza Stark Mode of inheritance for gene: ST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7631 ST14 Zornitza Stark reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18843291, 29611532, 17273967; Phenotypes: Ichthyosis, congenital, autosomal recessive 11 MIM#602400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Marked gene: ST14 as ready
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Gene: st14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Classified gene: ST14 as Green List (high evidence)
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Gene: st14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.53 ST14 Bryony Thompson gene: ST14 was added
gene: ST14 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST14 were set to 18843291; 29611532; 17273967
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400
Review for gene: ST14 was set to GREEN
Added comment: At least 4 consanguineous families with ichthyosis and generalized non-scarring hypotrichosis (an overlapping phenotype with ectodermal dysplasia), and some supporting evidence in patient keratinocytes.
Sources: NHS GMS
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Marked gene: GRHL2 as ready
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Classified gene: GRHL2 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.51 GRHL2 Bryony Thompson gene: GRHL2 was added
gene: GRHL2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHL2 were set to 25152456
Phenotypes for gene: GRHL2 were set to Ectodermal dysplasia/short stature syndrome MIM#616029
Review for gene: GRHL2 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous missense variants and some supporting assays on keratinocytes from cases.
Sources: NHS GMS
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Marked gene: ANAPC1 as ready
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Classified gene: ANAPC1 as Green List (high evidence)
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.49 ANAPC1 Bryony Thompson gene: ANAPC1 was added
gene: ANAPC1 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson syndrome, type 1 MIM#618625
Review for gene: ANAPC1 was set to GREEN
Added comment: 7 cases from 5 families with biallelic variants (3 different variants) have at least 2 ectodermal features as part of the phenotype.
Sources: NHS GMS
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Marked gene: NFKB2 as ready
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Mode of pathogenicity for gene: NFKB2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson edited their review of gene: NFKB2: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson Classified gene: NFKB2 as Green List (high evidence)
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.46 NFKB2 Bryony Thompson gene: NFKB2 was added
gene: NFKB2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 31417880; 28778864; 27749582
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM#615577
Review for gene: NFKB2 was set to GREEN
Added comment: Heterozygous C-terminal variants (both stopgain and missense) with gain-of-function effects cause early onset common variable immunodeficiency (CVID) with ectodermal dysplasia, while loss of function cause CVID without ectodermal manifestations. >3 cases reported with ectodermal dysplasia as a feature of the condition.
Sources: NHS GMS
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Marked gene: MBTPS2 as ready
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Classified gene: MBTPS2 as Green List (high evidence)
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.44 MBTPS2 Bryony Thompson gene: MBTPS2 was added
gene: MBTPS2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: MBTPS2 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: MBTPS2 were set to 19361614; 22105905; 24313295
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205
Review for gene: MBTPS2 was set to GREEN
Added comment: >3 families reported with ectodermal dysplasia as a feature of the condition, however there is phenotype variability and intra-familial phenotype variability. Ectodermal dysplasia is a feature of BRESHECK syndrome
Sources: NHS GMS
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Marked gene: KRT14 as ready
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Classified gene: KRT14 as Green List (high evidence)
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.42 KRT14 Bryony Thompson gene: KRT14 was added
gene: KRT14 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 16960809; 30968399
Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome MIM#161000; Dermatopathia pigmentosa reticularis MIM#125595
Review for gene: KRT14 was set to GREEN
Added comment: >3 families reported with an ectodermal dysplasia syndrome that involves teeth, hair, and skin.
Sources: NHS GMS
Mendeliome v0.7631 CPE Zornitza Stark Marked gene: CPE as ready
Mendeliome v0.7631 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7631 CPE Zornitza Stark Classified gene: CPE as Amber List (moderate evidence)
Mendeliome v0.7631 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7630 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Review for gene: CPE was set to AMBER
Added comment: Four affected individuals from two unrelated families reported, bi-allelic LoF variants.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Marked gene: CPE as ready
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Classified gene: CPE as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3776 CPE Zornitza Stark Gene: cpe has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3775 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326
Review for gene: CPE was set to AMBER
Added comment: Four affected individuals from two unrelated families reported, bi-allelic LoF variants.
Sources: Expert list
Mendeliome v0.7629 CELSR1 Zornitza Stark Marked gene: CELSR1 as ready
Mendeliome v0.7629 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Green List (High Evidence).
Mendeliome v0.7629 CELSR1 Zornitza Stark Classified gene: CELSR1 as Green List (high evidence)
Mendeliome v0.7629 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Green List (High Evidence).
Mendeliome v0.7628 CELSR1 Zornitza Stark gene: CELSR1 was added
gene: CELSR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELSR1 were set to 31215153; 31403174; 26855770
Phenotypes for gene: CELSR1 were set to Lymphatic malformation 9, MIM# 619319
Review for gene: CELSR1 was set to GREEN
Added comment: 3 unrelated families reported.
Sources: Literature
Lymphoedema_nonsyndromic v0.23 CELSR1 Zornitza Stark Publications for gene: CELSR1 were set to 31215153
Lymphoedema_nonsyndromic v0.22 CELSR1 Zornitza Stark commented on gene: CELSR1: 3 unrelated families reported.
Lymphoedema_nonsyndromic v0.22 CELSR1 Zornitza Stark edited their review of gene: CELSR1: Changed publications: 31215153, 31403174, 26855770
Lymphoedema_nonsyndromic v0.22 CELSR1 Zornitza Stark Phenotypes for gene: CELSR1 were changed from lymphoedema to Lymphatic malformation 9, MIM# 619319
Lymphoedema_nonsyndromic v0.21 CELSR1 Zornitza Stark reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 9, MIM# 619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Marked gene: SLC2A4RG as ready
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Gene: slc2a4rg has been classified as Red List (Low Evidence).
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Classified gene: SLC2A4RG as Red List (low evidence)
Mendeliome v0.7627 SLC2A4RG Zornitza Stark Gene: slc2a4rg has been classified as Red List (Low Evidence).
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Marked gene: SLCO1B1 as ready
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Added comment: Comment when marking as ready: Not a monogenic disorder.
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Gene: slco1b1 has been classified as Red List (Low Evidence).
Mendeliome v0.7626 SLCO1B1 Zornitza Stark Phenotypes for gene: SLCO1B1 were changed from to Hyperbilirubinemia, Rotor type, digenic 237450
Mendeliome v0.7625 SLCO1B1 Zornitza Stark Publications for gene: SLCO1B1 were set to
Mendeliome v0.7624 SLCO1B1 Zornitza Stark Classified gene: SLCO1B1 as Red List (low evidence)
Mendeliome v0.7624 SLCO1B1 Zornitza Stark Gene: slco1b1 has been classified as Red List (Low Evidence).
Mendeliome v0.7623 SLC2A4RG Melanie Marty reviewed gene: SLC2A4RG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.7623 SLCO1B1 Dean Phelan reviewed gene: SLCO1B1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30250148, 24918167; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.3774 SIAH1 Zornitza Stark Phenotypes for gene: SIAH1 were changed from Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia to Buratti-Harel syndrome, MIM# 619314; Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Intellectual disability syndromic and non-syndromic v0.3773 SIAH1 Zornitza Stark edited their review of gene: SIAH1: Changed phenotypes: Buratti-Harel syndrome, MIM# 619314, Developmental delay, Infantile hypotonia, Dysmorphic features, Laryngomalacia
Mendeliome v0.7623 SIAH1 Zornitza Stark Phenotypes for gene: SIAH1 were changed from Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia to Buratti-Harel syndrome, MIM# 619314; Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Mendeliome v0.7622 SIAH1 Zornitza Stark reviewed gene: SIAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Buratti-Harel syndrome, MIM# 619314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.15 SMARCA5 Zornitza Stark Marked gene: SMARCA5 as ready
Microcephaly v1.15 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Microcephaly v1.15 SMARCA5 Zornitza Stark Classified gene: SMARCA5 as Green List (high evidence)
Microcephaly v1.15 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Microcephaly v1.14 SMARCA5 Zornitza Stark gene: SMARCA5 was added
gene: SMARCA5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA5 were set to 33980485
Phenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features
Review for gene: SMARCA5 was set to GREEN
Added comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association.
Sources: Literature
Mendeliome v0.7622 SMARCA5 Zornitza Stark Marked gene: SMARCA5 as ready
Mendeliome v0.7622 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Mendeliome v0.7622 SMARCA5 Zornitza Stark Classified gene: SMARCA5 as Green List (high evidence)
Mendeliome v0.7622 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Mendeliome v0.7621 SMARCA5 Zornitza Stark gene: SMARCA5 was added
gene: SMARCA5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA5 were set to 33980485
Phenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features
Review for gene: SMARCA5 was set to GREEN
Added comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Marked gene: FBXW7 as ready
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Classified gene: FBXW7 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3773 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Marked gene: SMARCA5 as ready
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Classified gene: SMARCA5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3772 SMARCA5 Zornitza Stark Gene: smarca5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3771 SMARCA5 Zornitza Stark gene: SMARCA5 was added
gene: SMARCA5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCA5 were set to 33980485
Phenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features
Review for gene: SMARCA5 was set to GREEN
Added comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3770 FBXW7 Zornitza Stark gene: FBXW7 was added
gene: FBXW7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW7 were set to 33057194
Phenotypes for gene: FBXW7 were set to FBXW7-related neurodevelopmental syndrome
Review for gene: FBXW7 was set to GREEN
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 12 de novo missense and 1 de novo synonymous variant identified in ~10,000 cases with developmental disorders (no other phenotype info provided).

We are aware of additional cases pending publication.
Sources: Literature
Mendeliome v0.7620 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from Developmental disorder to FBXW7-related neurodevelopmental syndrome
Mendeliome v0.7619 FBXW7 Zornitza Stark Classified gene: FBXW7 as Green List (high evidence)
Mendeliome v0.7619 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Green List (High Evidence).
Osteopetrosis v0.8 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Marked gene: PLEKHM1 as ready
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.76 PLEKHM1 Bryony Thompson Classified gene: PLEKHM1 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.76 PLEKHM1 Bryony Thompson Gene: plekhm1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.75 PLEKHM1 Bryony Thompson Deleted their comment
Defects of intrinsic and innate immunity v0.75 PLEKHM1 Bryony Thompson edited their review of gene: PLEKHM1: Added comment: 2 unrelated cases with monoallelic variants and 2 unrelated cases with biallelic variants, with supporting animal models. The recessive form is the only form reported in the IUIS 2019 PID update.; Changed rating: GREEN; Changed publications: 17404618, 32048120, 17997709, 27291868, 27777970, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107, Osteopetrosis, autosomal recessive 6 MIM#611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17997709, 27291868, 17404618, 27777970, 28290981; Phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteopetrosis v0.7 PLEKHM1 Bryony Thompson Deleted their review
Mendeliome v0.7618 FBXW7 Elena Savva reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33057194; Phenotypes: FBXW7-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7618 LEMD2 Zornitza Stark changed review comment from: Recurrent de novo variant in both individuals; to: Recurrent de novo variant in both individuals p.Ser479Phe.
Mendeliome v0.7618 LEMD2 Zornitza Stark Phenotypes for gene: LEMD2 were changed from progeroid disorder to Marbach-Rustad progeroid syndrome, OMIM# 619322; progeroid disorder
Mendeliome v0.7617 LEMD2 Zornitza Stark reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Marbach-Rustad progeroid syndrome, OMIM# 619322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.171 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Hereditary Neuropathy_CMT - isolated v0.171 SCN9A Zornitza Stark Gene: scn9a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.171 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from Erythermalgia, primary; Hereditary sensory and autonomic neuropathy type IID; HSAN/SFN to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020
Hereditary Neuropathy_CMT - isolated v0.170 SCN9A Zornitza Stark reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythermalgia, primary, MIM# 133020, Insensitivity to pain, congenital, MIM# 243000, Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000, Paroxysmal extreme pain disorder, MIM# 167400, Small fiber neuropathy,MIM# 133020; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.119 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Clefting disorders v0.119 SEPT9 Zornitza Stark Gene: sept9 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.119 SEPT9 Zornitza Stark Tag SV/CNV tag was added to gene: SEPT9.
Tag 5'UTR tag was added to gene: SEPT9.
Tag founder tag was added to gene: SEPT9.
Tag new gene name tag was added to gene: SEPT9.
Clefting disorders v0.119 SEPT9 Zornitza Stark Phenotypes for gene: SEPT9 were changed from HNA; AMYOTROPHY, HEREDITARY NEURALGIC to HNA; Amyotrophy, hereditary neuralgic, MIM# 162100
Clefting disorders v0.118 SEPT9 Zornitza Stark Publications for gene: SEPT9 were set to
Clefting disorders v0.117 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.116 SEPT9 Zornitza Stark Classified gene: SEPT9 as Amber List (moderate evidence)
Clefting disorders v0.116 SEPT9 Zornitza Stark Gene: sept9 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.115 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049, 18492087; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.22 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Pain syndromes v0.22 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Pain syndromes v0.22 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.21 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7617 SEPT9 Zornitza Stark Publications for gene: SEPT9 were set to
Mendeliome v0.7616 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7615 SEPT9 Zornitza Stark Tag SV/CNV tag was added to gene: SEPT9.
Tag 5'UTR tag was added to gene: SEPT9.
Tag founder tag was added to gene: SEPT9.
Tag new gene name tag was added to gene: SEPT9.
Mendeliome v0.7615 SEPT9 Zornitza Stark edited their review of gene: SEPT9: Added comment: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. Multiple founder variants, including p.Arg88Trp. Also note intragenic duplication and 5'UTR variant reported, which may not be detectable by all NGS assays.; Changed publications: 16186812, 19451530, 19939853, 19139049
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is SEPTIN9.
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Tag new gene name tag was added to gene: SEPT9.
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Tag SV/CNV tag was added to gene: SEPT9.
Tag 5'UTR tag was added to gene: SEPT9.
Tag founder tag was added to gene: SEPT9.
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Marked gene: SEPT9 as ready
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Gene: sept9 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.170 SEPT9 Zornitza Stark Phenotypes for gene: SEPT9 were changed from Amyotrophy, hereditary neuralgic; HMSN to Amyotrophy, hereditary neuralgic, MIM# 162100; HMSN
Hereditary Neuropathy_CMT - isolated v0.169 SEPT9 Zornitza Stark Publications for gene: SEPT9 were set to
Hereditary Neuropathy_CMT - isolated v0.168 SEPT9 Zornitza Stark Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.167 SEPT9 Zornitza Stark reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Arthrogryposis v0.268 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Arthrogryposis v0.267 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Arthrogryposis v0.266 SLC5A7 Zornitza Stark Mode of inheritance for gene: SLC5A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.265 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 29189923, 30172469; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7615 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Mendeliome v0.7615 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Mendeliome v0.7615 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024; Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Mendeliome v0.7614 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Mendeliome v0.7613 SLC5A7 Zornitza Stark Mode of inheritance for gene: SLC5A7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7612 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141292, 15173594, 29782645, 29582019, 27569547, 29189923, 30172469; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580, MONDO:0008024, Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.167 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Hereditary Neuropathy_CMT - isolated v0.167 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.167 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from Neuronopathy, distal hereditary motor, type VIIA to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024
Hereditary Neuropathy_CMT - isolated v0.166 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Hereditary Neuropathy_CMT - isolated v0.165 SLC5A7 Zornitza Stark edited their review of gene: SLC5A7: Changed phenotypes: Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580, MONDO:0008024
Hereditary Neuropathy_CMT - isolated v0.165 SLC5A7 Zornitza Stark reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141292, 15173594, 29782645, 29582019; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.165 DHTKD1 Zornitza Stark changed review comment from: Comment on list classification: Two unrelated families and animal model.; to: Comment on list classification: Two unrelated families and animal model. Note bi-allelic variants are associated with a metabolic disorder.
Hereditary Neuropathy_CMT - isolated v0.165 DHTKD1 Zornitza Stark Mode of inheritance for gene: DHTKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.164 DHTKD1 Zornitza Stark Marked gene: DHTKD1 as ready
Hereditary Neuropathy_CMT - isolated v0.164 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.164 DHTKD1 Zornitza Stark Publications for gene: DHTKD1 were set to
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Classified gene: ASXL1 as Green List (high evidence)
Cancer Predisposition_Paediatric v0.101 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Cancer Predisposition_Paediatric v0.100 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Cancer Predisposition_Paediatric. Sources: Expert Review
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASXL1 were set to 29446906
Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome , MIM#605039; Wilms tumour
Review for gene: ASXL1 was set to GREEN
Added comment: Case reports suggest that individuals with BOS are at greater risk for Wilms tumour than the general population.
Recommended surveillance: Renal ultrasound every three months from birth to age eight to screen for the development of Wilms tumour.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Marked gene: ZMIZ1 as ready
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Classified gene: ZMIZ1 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.72 ZMIZ1 Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.71 ZMIZ1 Michelle Torres gene: ZMIZ1 was added
gene: ZMIZ1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659)
Review for gene: ZMIZ1 was set to GREEN
Added comment: Out of 19 individuals reported with a neurodevelopmental phenotype (16 unrelated), 4 presented hearing loss. One of these individuals (#13) also had 2 affected siblings that did not present hearing loss (#14 and #15) (PMID: 30639322).
Sources: Literature
Mendeliome v0.7612 SMN1 Zornitza Stark changed review comment from: Well established gene-disease association. Deletions common.; to: Well established gene-disease association. Deletions common. High sequence homology between SMN1 and SMN2 can make NGS data difficult to interpret.
Hereditary Neuropathy_CMT - isolated v0.163 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Hereditary Neuropathy_CMT - isolated v0.163 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.163 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy to Spinal muscular atrophy-1, MIM# 253300; Spinal muscular atrophy-2, MIM# 253550; Spinal muscular atrophy-3, MIM# 253400; Spinal muscular atrophy-4, MIM# 271150
Hereditary Neuropathy_CMT - isolated v0.162 SMN1 Zornitza Stark Tag SV/CNV tag was added to gene: SMN1.
Hereditary Neuropathy_CMT - isolated v0.162 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, Spinal muscular atrophy-2, MIM# 253550, Spinal muscular atrophy-3, MIM# 253400, Spinal muscular atrophy-4, MIM# 271150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3769 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Intellectual disability syndromic and non-syndromic v0.3769 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3769 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from to Spastic paraplegia 11, autosomal recessive 604360
Intellectual disability syndromic and non-syndromic v0.3768 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Intellectual disability syndromic and non-syndromic v0.3767 SPG11 Zornitza Stark Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3766 SPG11 Zornitza Stark reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33581793; Phenotypes: Spastic paraplegia 11, autosomal recessive 604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.162 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Hereditary Neuropathy_CMT - isolated v0.162 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.162 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X; MONDO:0014726
Hereditary Neuropathy_CMT - isolated v0.161 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Hereditary Neuropathy_CMT - isolated v0.160 SPG11 Zornitza Stark edited their review of gene: SPG11: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2X, MIM# 616668, MONDO:0014726
Hereditary Neuropathy_CMT - isolated v0.160 SPG11 Zornitza Stark reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26556829, 33581793; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2X, MIM# 616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.295 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Callosome v0.295 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Callosome v0.295 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477
Callosome v0.294 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Callosome v0.293 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.292 SPTAN1 Zornitza Stark Classified gene: SPTAN1 as Amber List (moderate evidence)
Callosome v0.292 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Callosome v0.291 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3766 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Intellectual disability syndromic and non-syndromic v0.3766 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3766 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477
Intellectual disability syndromic and non-syndromic v0.3765 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Intellectual disability syndromic and non-syndromic v0.3764 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3763 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1081 SPTAN1 Zornitza Stark changed review comment from: At least 4 unrelated families reported.; to: At least 4 unrelated families reported, dominant negative mechanism postulated.
Hereditary Neuropathy_CMT - isolated v0.160 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Hereditary Neuropathy_CMT - isolated v0.160 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.160 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.89 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Restrictive cardiomyopathy
Susceptibility to Viral Infections v0.75 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Susceptibility to CMV to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Susceptibility to CMV
Cardiomyopathy_Paediatric v0.88 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Restrictive cardiomyopathy
Susceptibility to Viral Infections v0.74 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Susceptibility to CMV
Mendeliome v0.7612 MCM10 Zornitza Stark Phenotypes for gene: MCM10 were changed from Susceptibility to CMV; Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Susceptibility to CMV; Restrictive cardiomyopathy
Mendeliome v0.7611 MCM10 Zornitza Stark edited their review of gene: MCM10: Changed phenotypes: Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313, Susceptibility to CMV, Restrictive cardiomyopathy
Mendeliome v0.7611 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
Mendeliome v0.7611 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
Mendeliome v0.7611 NR3C2 Zornitza Stark Phenotypes for gene: NR3C2 were changed from to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Mendeliome v0.7610 NR3C2 Zornitza Stark Publications for gene: NR3C2 were set to
Mendeliome v0.7609 NR3C2 Zornitza Stark Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7608 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Phenotypes for gene: NR3C2 were changed from to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Hypertension and Aldosterone disorders v0.22 NR3C2 Zornitza Stark Publications for gene: NR3C2 were set to
Hypertension and Aldosterone disorders v0.21 NR3C2 Zornitza Stark Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark edited their review of gene: NR3C2: Changed phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark changed review comment from: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.

Well established gene-disease association, over 50 unrelated families reported.; to: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.

Well established gene-disease association, over 50 unrelated families reported. Most reported variants are LoF.
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.8 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021); MONDO:0013087
Ciliary Dyskinesia v1.7 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v1.6 SCNN1A Zornitza Stark Classified gene: SCNN1A as Amber List (moderate evidence)
Ciliary Dyskinesia v1.6 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v1.5 SCNN1A Zornitza Stark reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19462466; Phenotypes: Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021, MONDO:0013087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7608 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Mendeliome v0.7608 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Mendeliome v0.7608 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from to Liddle syndrome 3 618126, MIM# AD, MONDO:0029132; Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087; Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917
Mendeliome v0.7607 SCNN1A Zornitza Stark Publications for gene: SCNN1A were set to
Mendeliome v0.7606 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7605 SCNN1A Zornitza Stark reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31301676, 28710092, 19462466, 19017867; Phenotypes: Liddle syndrome 3 618126, MIM# AD, MONDO:0029132, Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087, Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7605 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Mendeliome v0.7605 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Mendeliome v0.7605 SPTLC1 Zornitza Stark Phenotypes for gene: SPTLC1 were changed from to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Mendeliome v0.7604 SPTLC1 Zornitza Stark Publications for gene: SPTLC1 were set to
Mendeliome v0.7603 SPTLC1 Zornitza Stark Mode of inheritance for gene: SPTLC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.160 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Hereditary Neuropathy_CMT - isolated v0.160 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.160 SPTLC1 Zornitza Stark Publications for gene: SPTLC1 were set to
Hereditary Neuropathy_CMT - isolated v0.159 SPTLC1 Zornitza Stark Mode of inheritance for gene: SPTLC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC1 Zornitza Stark reviewed gene: SPTLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242114, 11242106, 15037712, 26681808; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7602 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Mendeliome v0.7602 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Mendeliome v0.7602 SPTLC2 Zornitza Stark Phenotypes for gene: SPTLC2 were changed from to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Mendeliome v0.7601 SPTLC2 Zornitza Stark Publications for gene: SPTLC2 were set to
Mendeliome v0.7600 SPTLC2 Zornitza Stark Mode of inheritance for gene: SPTLC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.158 SPTLC2 Zornitza Stark Phenotypes for gene: SPTLC2 were changed from Neuropathy, hereditary sensory and autonomic, type IC, 613640; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.157 SPTLC2 Zornitza Stark Publications for gene: SPTLC2 were set to
Hereditary Neuropathy_CMT - isolated v0.156 SPTLC2 Zornitza Stark Mode of inheritance for gene: SPTLC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.155 SPTLC2 Zornitza Stark reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920666, 23658386, 31509666, 30866134; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7599 ZPR1 Zornitza Stark Tag founder tag was added to gene: ZPR1.
Mendeliome v0.7599 ZPR1 Zornitza Stark Marked gene: ZPR1 as ready
Mendeliome v0.7599 ZPR1 Zornitza Stark Gene: zpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.7599 ZPR1 Zornitza Stark gene: ZPR1 was added
gene: ZPR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPR1 were set to 29851065
Phenotypes for gene: ZPR1 were set to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321
Review for gene: ZPR1 was set to RED
Added comment: 3 families reported with growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF). All were Hispanic families from the middle Rio Grande Valley. Homozygous missense identified in one family, p. Ile196Thr. Others unavailable for testing, founder effect postulated.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3763 SPEN Zornitza Stark Publications for gene: SPEN were set to 33057194
Intellectual disability syndromic and non-syndromic v0.3762 SPEN Zornitza Stark Phenotypes for gene: SPEN were changed from Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies
Mendeliome v0.7598 SPEN Zornitza Stark Marked gene: SPEN as ready
Mendeliome v0.7598 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Mendeliome v0.7598 SPEN Zornitza Stark Phenotypes for gene: SPEN were changed from Intellectual disability; autism; congenital anomalies to Radio-Tartaglia syndrome, MIM# 619312; Intellectual disability; autism; congenital anomalies
Mendeliome v0.7597 SPEN Zornitza Stark Publications for gene: SPEN were set to 33057194
Mendeliome v0.7596 SPEN Zornitza Stark reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radio-Tartaglia syndrome, MIM# 619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.83 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.82 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFF3 were set to 31388108; 33961779
Phenotypes for gene: AFF3 were set to KINSSHIP syndrome, MIM# 619297
Review for gene: AFF3 was set to GREEN
Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.

All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.
Sources: Literature
Microcephaly v1.13 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Microcephaly v1.13 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Microcephaly v1.13 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Microcephaly v1.13 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Microcephaly v1.12 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFF3 were set to 31388108; 33961779
Phenotypes for gene: AFF3 were set to KINSSHIP syndrome, MIM# 619297
Review for gene: AFF3 was set to GREEN
Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.

All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.
Sources: Literature
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.98 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from No OMIM or G2P phenotype to KINSSHIP syndrome, MIM# 619297
Skeletal dysplasia v0.97 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Skeletal dysplasia v0.96 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.95 AFF3 Zornitza Stark Classified gene: AFF3 as Green List (high evidence)
Skeletal dysplasia v0.95 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.94 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3761 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Intellectual disability syndromic and non-syndromic v0.3761 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3761 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from to KINSSHIP syndrome, MIM# 619297
Intellectual disability syndromic and non-syndromic v0.3760 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Intellectual disability syndromic and non-syndromic v0.3759 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3758 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1081 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from Intellectual disability; seizures; hypertrichosis to KINSSHIP syndrome, MIM# 619297; Intellectual disability; seizures; hypertrichosis
Genetic Epilepsy v0.1080 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Genetic Epilepsy v0.1079 AFF3 Zornitza Stark edited their review of gene: AFF3: Added comment: 16 affected individuals reported with de novo missense variants. All variants occurred within the degron motif of the ALF domain. The highly conserved 9-amino acid motif mediates the interaction with SIAH E3 ubiquitin ligases and regulates their degradation. Thirteen of the probands carried variants affecting the same codon in exon 6, ala258.

All probands presented with severe developmental epileptic encephalopathy along with mesomelic dysplasia (12/18) and failure to thrive (14/18). The skeletal features included short forearms, radial head dislocation/subluxation, triangular and/or short tibia, fibular hypoplasia, hip dislocation, and tarsal and/or metatarsal synostosis resembling Nievergelt/Savarirayan mesomelic skeletal dysplasia. Other features included microcephaly (9/18), global brain atrophy and/or ventriculomegaly (13/15), fibular hypoplasia (12/16), horseshoe or hypoplastic kidney (13/17), abnormalities of muscle tone (12/16), gastroesophageal reflux disease (6/16), and other gastrointestinal symptoms (14/17). The patients also shared common dysmorphic facial features such as a bulbous nasal tip (10/15), a wide mouth (10/16) often with a square upper lip, abnormalities of the teeth and gums (12/15), and hypertrichosis (12/15). The constellation of features recalled some features of CHOPS syndrome, which is caused by mutations in a related gene, AFF4.; Changed publications: 31388108, 33961779; Changed phenotypes: KINSSHIP syndrome, MIM# 619297, Intellectual disability, seizures, hypertrichosis
Mendeliome v0.7596 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Mendeliome v0.7596 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Mendeliome v0.7596 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from to KINSSHIP syndrome, MIM# 619297
Mendeliome v0.7595 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Mendeliome v0.7594 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7593 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from to KINSSHIP syndrome, MIM# 619297
Hypertrichosis syndromes v0.26 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Hypertrichosis syndromes v0.25 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.24 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.30 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090 to Myopathic EDS; Bethlem myopathy 1 MIM #158810; Ullrich congenital muscular dystrophy 1 MIM #254090
Aortopathy_Connective Tissue Disorders v1.29 COL6A2 Zornitza Stark Publications for gene: COL6A2 were set to (PMID: 29277723; 24443028)
Aortopathy_Connective Tissue Disorders v1.28 COL6A2 Zornitza Stark Classified gene: COL6A2 as Red List (low evidence)
Aortopathy_Connective Tissue Disorders v1.28 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Aortopathy_Connective Tissue Disorders v1.27 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: 31273343; Phenotypes: Myopathic EDS; Mode of inheritance: None
Mendeliome v0.7593 KDR Zornitza Stark Marked gene: KDR as ready
Mendeliome v0.7593 KDR Zornitza Stark Gene: kdr has been classified as Green List (High Evidence).
Mendeliome v0.7593 KDR Zornitza Stark Phenotypes for gene: KDR were changed from to Pulmonary hypertension; Haemangioma, capillary infantile, somatic 602089
Mendeliome v0.7592 KDR Zornitza Stark Publications for gene: KDR were set to
Mendeliome v0.7591 KDR Zornitza Stark Mode of inheritance for gene: KDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7590 KDR Zornitza Stark reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980491, 29650961, 18931684; Phenotypes: Pulmonary hypertension, Haemangioma, capillary infantile, somatic 602089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.3 KDR Zornitza Stark Publications for gene: KDR were set to 31980491
Pulmonary Arterial Hypertension v1.2 KDR Zornitza Stark Classified gene: KDR as Green List (high evidence)
Pulmonary Arterial Hypertension v1.2 KDR Zornitza Stark Gene: kdr has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.1 KDR Zornitza Stark edited their review of gene: KDR: Changed rating: GREEN
Pulmonary Arterial Hypertension v1.1 KDR Zornitza Stark edited their review of gene: KDR: Added comment: Additional case-control and functional data, rated as STRONG by ClinGen.; Changed publications: 31980491, 29650961
Mendeliome v0.7590 TRIM2 Zornitza Stark Marked gene: TRIM2 as ready
Mendeliome v0.7590 TRIM2 Zornitza Stark Gene: trim2 has been classified as Green List (High Evidence).
Mendeliome v0.7590 TRIM2 Zornitza Stark Phenotypes for gene: TRIM2 were changed from to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208
Mendeliome v0.7589 TRIM2 Zornitza Stark Publications for gene: TRIM2 were set to
Mendeliome v0.7588 TRIM2 Zornitza Stark Mode of inheritance for gene: TRIM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7587 TRIM2 Zornitza Stark reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562820, 25893792, 18687884, 32815244, 32205255, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, MIM# 615490, MONDO:0014208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.155 TRIM2 Zornitza Stark Marked gene: TRIM2 as ready
Hereditary Neuropathy_CMT - isolated v0.155 TRIM2 Zornitza Stark Gene: trim2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.155 TRIM2 Zornitza Stark Phenotypes for gene: TRIM2 were changed from Charcot-Marie-Tooth disease, type 2R, 615490; HMSN to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208; HMSN
Hereditary Neuropathy_CMT - isolated v0.154 TRIM2 Zornitza Stark Publications for gene: TRIM2 were set to
Hereditary Neuropathy_CMT - isolated v0.153 TRIM2 Zornitza Stark reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562820, 25893792, 18687884, 32815244, 32205255, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, MIM# 615490, MONDO:0014208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.153 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071 to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Hereditary Neuropathy_CMT - isolated v0.152 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.151 TRPV4 Zornitza Stark reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, type IIc, MIM# 606071, Neuronopathy, distal hereditary motor, type VIII, MIM# 600175; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.151 WARS Zornitza Stark Marked gene: WARS as ready
Hereditary Neuropathy_CMT - isolated v0.151 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.151 WARS Zornitza Stark Phenotypes for gene: WARS were changed from Neuronopathy, distal hereditary motor, type IX, 617721 to Neuronopathy, distal hereditary motor, type IX, MIM#617721
Hereditary Neuropathy_CMT - isolated v0.150 WARS Zornitza Stark Publications for gene: WARS were set to
Hereditary Neuropathy_CMT - isolated v0.149 WARS Zornitza Stark Mode of inheritance for gene: WARS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.148 WARS Zornitza Stark reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28369220, 31321409, 31069783; Phenotypes: Neuronopathy, distal hereditary motor, type IX, MIM# 617721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.148 YARS Zornitza Stark Marked gene: YARS as ready
Hereditary Neuropathy_CMT - isolated v0.148 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.148 YARS Zornitza Stark Phenotypes for gene: YARS were changed from Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012
Hereditary Neuropathy_CMT - isolated v0.147 YARS Zornitza Stark Publications for gene: YARS were set to
Hereditary Neuropathy_CMT - isolated v0.146 YARS Zornitza Stark Mode of inheritance for gene: YARS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.145 YARS Zornitza Stark reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 16429158, 24354524, 31587308, 26725087; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323, MONDO:0012012; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.145 DGAT2 Zornitza Stark Marked gene: DGAT2 as ready
Hereditary Neuropathy_CMT - isolated v0.145 DGAT2 Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.145 DGAT2 Zornitza Stark Mode of inheritance for gene: DGAT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.144 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Hereditary Neuropathy_CMT - isolated v0.144 SCO2 Zornitza Stark Gene: sco2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.144 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from ?Charcot-Marie-Tooth disease type 4; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; dHMN/dSMA to Charcot-Marie-Tooth disease type 4; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.143 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Pain syndromes v0.21 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Pain syndromes v0.21 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Pain syndromes v0.21 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Pain syndromes v0.20 RAB7A Zornitza Stark Mode of inheritance for gene: RAB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pain syndromes v0.19 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7587 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Mendeliome v0.7587 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Mendeliome v0.7587 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Mendeliome v0.7586 RAB7A Zornitza Stark Publications for gene: RAB7A were set to
Mendeliome v0.7585 RAB7A Zornitza Stark Mode of inheritance for gene: RAB7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7584 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.142 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Hereditary Neuropathy_CMT - isolated v0.142 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.142 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from HMSN, HSAN/SFN; Charcot-Marie-Tooth disease, type 2B, 600882 to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949
Hereditary Neuropathy_CMT - isolated v0.141 RAB7A Zornitza Stark Publications for gene: RAB7A were set to
Hereditary Neuropathy_CMT - isolated v0.140 RAB7A Zornitza Stark Mode of inheritance for gene: RAB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.139 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autonomic neuropathy v0.46 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Autonomic neuropathy v0.45 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Autonomic neuropathy v0.44 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pain syndromes v0.19 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Pain syndromes v0.19 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Pain syndromes v0.19 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Pain syndromes v0.18 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867
Pain syndromes v0.17 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7584 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Mendeliome v0.7584 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Mendeliome v0.7584 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Mendeliome v0.7583 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Mendeliome v0.7582 PRDM12 Zornitza Stark Mode of inheritance for gene: PRDM12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7581 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.139 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Hereditary Neuropathy_CMT - isolated v0.139 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.139 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.138 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Hereditary Neuropathy_CMT - isolated v0.137 PRDM12 Zornitza Stark edited their review of gene: PRDM12: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662
Hereditary Neuropathy_CMT - isolated v0.137 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7581 FIP1L1 Zornitza Stark Marked gene: FIP1L1 as ready
Mendeliome v0.7581 FIP1L1 Zornitza Stark Gene: fip1l1 has been classified as Red List (Low Evidence).
Mendeliome v0.7581 FIP1L1 Zornitza Stark Classified gene: FIP1L1 as Red List (low evidence)
Mendeliome v0.7581 FIP1L1 Zornitza Stark Gene: fip1l1 has been classified as Red List (Low Evidence).
Mendeliome v0.7580 FIP1L1 Zornitza Stark reviewed gene: FIP1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7580 THBS2 Zornitza Stark Marked gene: THBS2 as ready
Mendeliome v0.7580 THBS2 Zornitza Stark Gene: thbs2 has been classified as Red List (Low Evidence).
Mendeliome v0.7580 THBS2 Zornitza Stark Phenotypes for gene: THBS2 were changed from to {Lumbar disc herniation, susceptibility to} 603932
Mendeliome v0.7579 THBS2 Zornitza Stark Classified gene: THBS2 as Red List (low evidence)
Mendeliome v0.7579 THBS2 Zornitza Stark Gene: thbs2 has been classified as Red List (Low Evidence).
Mendeliome v0.7578 THBS2 Zornitza Stark reviewed gene: THBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Lumbar disc herniation, susceptibility to} 603932; Mode of inheritance: None
Mendeliome v0.7578 ADIPOQ Zornitza Stark Marked gene: ADIPOQ as ready
Mendeliome v0.7578 ADIPOQ Zornitza Stark Added comment: Comment when marking as ready: No evidence for association with Mendelian disease.
Mendeliome v0.7578 ADIPOQ Zornitza Stark Gene: adipoq has been classified as Red List (Low Evidence).
Mendeliome v0.7578 ADIPOQ Zornitza Stark Phenotypes for gene: ADIPOQ were changed from to Adiponectin deficiency MIM#612556
Mendeliome v0.7577 ADIPOQ Zornitza Stark Publications for gene: ADIPOQ were set to
Mendeliome v0.7576 ADIPOQ Zornitza Stark Classified gene: ADIPOQ as Red List (low evidence)
Mendeliome v0.7576 ADIPOQ Zornitza Stark Gene: adipoq has been classified as Red List (Low Evidence).
Mendeliome v0.7575 INTU Zornitza Stark Marked gene: INTU as ready
Mendeliome v0.7575 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Mendeliome v0.7575 INTU Zornitza Stark Phenotypes for gene: INTU were changed from to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly
Mendeliome v0.7574 INTU Zornitza Stark Publications for gene: INTU were set to
Mendeliome v0.7573 INTU Zornitza Stark Mode of inheritance for gene: INTU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.278 INTU Zornitza Stark Marked gene: INTU as ready
Ciliopathies v0.278 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Mendeliome v0.7572 ADIPOQ Chern Lim reviewed gene: ADIPOQ: Rating: RED; Mode of pathogenicity: None; Publications: 10918532, 32685557, 33075772, 30574262; Phenotypes: Adiponectin deficiency MIM#612556; Mode of inheritance: None
Ciliopathies v0.278 INTU Zornitza Stark Classified gene: INTU as Green List (high evidence)
Ciliopathies v0.278 INTU Zornitza Stark Gene: intu has been classified as Green List (High Evidence).
Mendeliome v0.7572 INTU Elena Savva reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27158779, 29451301, 20067783; Phenotypes: ?Orofaciodigital syndrome XVII MIM#617926, ?Short-rib thoracic dysplasia 20 with polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.277 INTU Elena Savva gene: INTU was added
gene: INTU was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to PMID: 27158779; 29451301; 20067783
Phenotypes for gene: INTU were set to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925
Review for gene: INTU was set to GREEN
Added comment: PMID: 27158779 - 1 hom (PTC) and 1 chet (PTC/missense) patient with OFD or Short-rib thoracic dysplasia

PMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system

PMID: 29451301 - 1 chet patient (missense/CNV) with OFD and polydactyly
Sources: Literature
Mendeliome v0.7572 NGF Zornitza Stark Marked gene: NGF as ready
Mendeliome v0.7572 NGF Zornitza Stark Gene: ngf has been classified as Green List (High Evidence).
Mendeliome v0.7572 NGF Zornitza Stark Phenotypes for gene: NGF were changed from to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Mendeliome v0.7571 NGF Zornitza Stark Publications for gene: NGF were set to
Mendeliome v0.7570 NGF Zornitza Stark Mode of inheritance for gene: NGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7569 NGF Zornitza Stark reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654, MONDO:0012092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.137 NGF Zornitza Stark Marked gene: NGF as ready
Hereditary Neuropathy_CMT - isolated v0.137 NGF Zornitza Stark Gene: ngf has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.137 NGF Zornitza Stark Phenotypes for gene: NGF were changed from HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, 608654 to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Hereditary Neuropathy_CMT - isolated v0.136 NGF Zornitza Stark Publications for gene: NGF were set to
Hereditary Neuropathy_CMT - isolated v0.135 NGF Zornitza Stark reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654, MONDO:0012092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7569 SPEG Zornitza Stark Phenotypes for gene: SPEG were changed from Centronuclear myopathy 5, MIM# 615959 to Centronuclear myopathy 5, MIM# 615959; Dilated cardiomyopathy
Mendeliome v0.7568 SPEG Zornitza Stark Publications for gene: SPEG were set to 25087613; 31625632; 30412272; 30157964; 29614691; 29474540; 28624463; 26578207; 25087613
Mendeliome v0.7567 SPEG Zornitza Stark edited their review of gene: SPEG: Added comment: PMIDs 32925938;33794647: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.; Changed publications: 25087613, 31625632, 30412272, 30157964, 29614691, 29474540, 28624463, 26578207, 25087613, 32925938, 33794647; Changed phenotypes: Centronuclear myopathy 5, MIM# 615959, Dilated cardiomyopathy
Mendeliome v0.7567 GREB1L Zornitza Stark changed review comment from: At least 16 families described, and mouse model supports gene-disease association.; to: CAKUT: At least 16 families described, and mouse model supports gene-disease association.
Regression v0.330 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Regression v0.330 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Regression v0.330 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; MONDO:0032629
Regression v0.329 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Regression v0.328 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.327 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Regression v0.327 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Regression v0.326 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.291 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Callosome v0.291 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Callosome v0.291 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Callosome v0.290 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Callosome v0.289 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.288 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Callosome v0.288 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Callosome v0.287 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Mitochondrial disease v0.625 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Mitochondrial disease v0.624 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.623 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7567 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Mendeliome v0.7567 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Mendeliome v0.7567 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Mendeliome v0.7566 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Mendeliome v0.7565 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7564 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7564 NDUFB3 Elena Savva reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22499348; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3758 RALA Zornitza Stark Phenotypes for gene: RALA were changed from Intellectual disability; short stature; dysmorphism to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; short stature; dysmorphism
Intellectual disability syndromic and non-syndromic v0.3757 RALA Zornitza Stark edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, short stature, dysmorphism
Genetic Epilepsy v0.1079 RALA Zornitza Stark Phenotypes for gene: RALA were changed from Intellectual disability; Seizures to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; Seizures
Genetic Epilepsy v0.1078 RALA Zornitza Stark edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, Seizures
Mendeliome v0.7564 RALA Zornitza Stark Phenotypes for gene: RALA were changed from Intellectual disability; Seizures to Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311; Intellectual disability; Seizures
Mendeliome v0.7563 RALA Zornitza Stark edited their review of gene: RALA: Changed phenotypes: Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311, Intellectual disability, Seizures
Mendeliome v0.7563 EXOSC1 Zornitza Stark Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM# 619304
Mendeliome v0.7562 EXOSC1 Zornitza Stark edited their review of gene: EXOSC1: Changed phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304
Cerebellar and Pontocerebellar Hypoplasia v1.10 EXOSC1 Zornitza Stark Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM# 619304
Cerebellar and Pontocerebellar Hypoplasia v1.9 EXOSC1 Zornitza Stark reviewed gene: EXOSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.108 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Hereditary Neuropathy - complex v0.107 SLC25A46 Zornitza Stark changed review comment from: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy.
Sources: Expert list; to: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.
Sources: Expert list
Hereditary Neuropathy - complex v0.107 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Ataxia - paediatric v0.280 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, MIM#616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Ataxia - paediatric v0.279 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.
Ataxia - paediatric v0.279 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.623 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Optic Atrophy v0.132 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Pontocerebellar hypoplasia, type 1E, MIM# 619303
Optic Atrophy v0.131 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7562 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mendeliome v0.7561 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New disease entity added by OMIM in 2021 to reflect this more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.
Mendeliome v0.7561 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Cerebellar and Pontocerebellar Hypoplasia v1.9 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Pontocerebellar hypoplasia, type 1E, MIM# 619303
Cerebellar and Pontocerebellar Hypoplasia v1.8 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7561 CAPN15 Zornitza Stark Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318; microphthalmia HP:0000568; coloboma HP:0000589
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Marked gene: CAPN15 as ready
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Classified gene: CAPN15 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3757 CAPN15 Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3756 CAPN15 Zornitza Stark gene: CAPN15 was added
gene: CAPN15 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 33410501; 32885237
Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318
Review for gene: CAPN15 was set to GREEN
Added comment: 5 families reported, including DD/ID in 3. Profound in one family with bi-allelic LoF variant, PMID 33410501.
Sources: Literature
Mendeliome v0.7560 CAPN15 Zornitza Stark Publications for gene: CAPN15 were set to 32885237
Mendeliome v0.7559 CAPN15 Zornitza Stark reviewed gene: CAPN15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33410501; Phenotypes: Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318, microphthalmia HP:0000568, coloboma HP:0000589; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.6 CAPN15 Zornitza Stark Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589 to Oculogastrointestinal neurodevelopmental syndrome 619318; microphthalmia HP:0000568; coloboma HP:0000589
Anophthalmia_Microphthalmia_Coloboma v1.5 CAPN15 Zornitza Stark edited their review of gene: CAPN15: Changed phenotypes: Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318, microphthalmia HP:0000568, coloboma HP:0000589
Mendeliome v0.7559 EXOC2 Zornitza Stark Phenotypes for gene: EXOC2 were changed from Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology to Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology
Mendeliome v0.7558 EXOC2 Zornitza Stark edited their review of gene: EXOC2: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306, Global developmental delay, Intellectual disability, Abnormality of the face, Abnormality of brain morphology
Intellectual disability syndromic and non-syndromic v0.3755 EXOC2 Zornitza Stark Phenotypes for gene: EXOC2 were changed from Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology to Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Global developmental delay; Intellectual disability; Abnormality of the face; Abnormality of brain morphology
Intellectual disability syndromic and non-syndromic v0.3754 EXOC2 Zornitza Stark reviewed gene: EXOC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7558 SPI1 Zornitza Stark Marked gene: SPI1 as ready
Mendeliome v0.7558 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Mendeliome v0.7558 SPI1 Zornitza Stark Classified gene: SPI1 as Green List (high evidence)
Mendeliome v0.7558 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Mendeliome v0.7557 SPI1 Zornitza Stark gene: SPI1 was added
gene: SPI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPI1 were set to 33951726
Phenotypes for gene: SPI1 were set to Agammaglobulinaemia
Review for gene: SPI1 was set to GREEN
Added comment: Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data.
Sources: Literature
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Marked gene: SPI1 as ready
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Classified gene: SPI1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.68 SPI1 Zornitza Stark Gene: spi1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.67 SPI1 Zornitza Stark gene: SPI1 was added
gene: SPI1 was added to Predominantly Antibody Deficiency. Sources: Literature
Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPI1 were set to 33951726
Phenotypes for gene: SPI1 were set to Agammaglobulinaemia
Review for gene: SPI1 was set to GREEN
Added comment: Six unrelated individuals reported, four with de novo variants, two unphased. Some functional data.
Sources: Literature
Mendeliome v0.7556 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Mendeliome v0.7556 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Mendeliome v0.7556 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from to Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085; Auditory neuropathy
Mendeliome v0.7555 NDRG1 Zornitza Stark Publications for gene: NDRG1 were set to
Mendeliome v0.7554 NDRG1 Zornitza Stark Mode of inheritance for gene: NDRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7553 NDRG1 Zornitza Stark reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10831399, 24136616, 33334662, 29724652, 29174527, 28776325; Phenotypes: Charcot Marie Tooth disease, type 4D, 601455, MONDO:0011085, Auditory neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.135 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Hereditary Neuropathy_CMT - isolated v0.135 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.135 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from HMSN; Charcot Marie Tooth disease, type 4D, 601455 to HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085
Hereditary Neuropathy_CMT - isolated v0.134 NDRG1 Zornitza Stark Publications for gene: NDRG1 were set to
Hereditary Neuropathy_CMT - isolated v0.133 NDRG1 Zornitza Stark Tag founder tag was added to gene: NDRG1.
Hereditary Neuropathy_CMT - isolated v0.133 NDRG1 Zornitza Stark reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10831399, 24136616, 33334662, 29724652, 29174527, 28776325; Phenotypes: Charcot-Marie-Tooth disease, type 4D, MIM# 601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7553 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Mendeliome v0.7553 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Mendeliome v0.7553 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1, 601382; MONDO:0011066
Mendeliome v0.7552 MTMR2 Zornitza Stark Publications for gene: MTMR2 were set to 10802647; 16249189; 33653949; 32586600; 32488727; 31680794
Mendeliome v0.7552 MTMR2 Zornitza Stark Publications for gene: MTMR2 were set to
Mendeliome v0.7551 MTMR2 Zornitza Stark Mode of inheritance for gene: MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7550 MTMR2 Zornitza Stark reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802647, 16249189, 33653949, 32586600, 32488727, 31680794; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, 601382, MONDO:0011066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.133 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Hereditary Neuropathy_CMT - isolated v0.133 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.133 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066
Hereditary Neuropathy_CMT - isolated v0.132 MTMR2 Zornitza Stark Publications for gene: MTMR2 were set to
Hereditary Neuropathy_CMT - isolated v0.131 MTMR2 Zornitza Stark reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802647, 16249189, 33653949, 32586600, 32488727, 31680794; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, MIM# 601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.131 MPZ Zornitza Stark Marked gene: MPZ as ready
Hereditary Neuropathy_CMT - isolated v0.131 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.131 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN
Hereditary Neuropathy_CMT - isolated v0.130 MPZ Zornitza Stark Publications for gene: MPZ were set to
Hereditary Neuropathy_CMT - isolated v0.129 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.128 MPZ Zornitza Stark edited their review of gene: MPZ: Changed phenotypes: Charcot Marie Tooth disease, dominant intermediate D, 60779, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, type 1B, 118200, Charcot Marie Tooth disease, type 2I, 607677, HMSN
Hereditary Neuropathy_CMT - isolated v0.128 MPZ Zornitza Stark edited their review of gene: MPZ: Changed phenotypes: Charcot Marie Tooth disease, dominant intermediate D, 607791, Roussy Levy syndrome, 180800, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, type 1B, 118200, Charcot Marie Tooth disease, type 2I, 607677, HMSN
Hereditary Neuropathy_CMT - isolated v0.128 MPZ Zornitza Stark reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 19293842; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.128 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Hereditary Neuropathy_CMT - isolated v0.128 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.128 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Hereditary Neuropathy_CMT - isolated v0.127 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Hereditary Neuropathy_CMT - isolated v0.126 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22508010, 26437932, 30298599; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.11 TMEM222 Zornitza Stark Marked gene: TMEM222 as ready
Microcephaly v1.11 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Microcephaly v1.11 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Microcephaly v1.11 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Microcephaly v1.10 TMEM222 Zornitza Stark gene: TMEM222 was added
gene: TMEM222 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: TMEM222 was set to GREEN
Added comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants. The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17.
Sources: Literature
Mendeliome v0.7550 TMEM222 Zornitza Stark Marked gene: TMEM222 as ready
Mendeliome v0.7550 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Mendeliome v0.7550 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Mendeliome v0.7550 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Mendeliome v0.7549 TMEM222 Zornitza Stark gene: TMEM222 was added
gene: TMEM222 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Intellectual disability; Epilepsy; Microcephaly
Review for gene: TMEM222 was set to GREEN
Added comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants. The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17.
Sources: Literature
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Marked gene: TMEM222 as ready
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Genetic Epilepsy v0.1078 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3754 TMEM222 Zornitza Stark Classified gene: TMEM222 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3754 TMEM222 Zornitza Stark Gene: tmem222 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1077 TMEM222 Konstantinos Varvagiannis gene: TMEM222 was added
gene: TMEM222 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality
Penetrance for gene: TMEM222 were set to Complete
Review for gene: TMEM222 was set to AMBER
Added comment: Seizures have been reported in 7 individuals (from 6 families). Consider inclusion with amber/green rating. From the ID panel :

Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants.

The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. Rare features incl. body tremors, decreased lower extremity muscle mass or disorder of motor neurons.

TMEM222 variants were identified following exome sequencing. Previous investigations incl. metabolic studies, FMR1, chromosomes by standard karyotype or CMA, SMA, CMT1A were reported to be normal (available for some individuals).

TMEM222 variants missense and pLoF ones mostly found in homozygosity (7/9 families were consanguineous, compound heterozygosity reported in a single case from the 9 families). Sanger sequencing was used for confirmation of variants, parental carrier state as well as testing of sibs (unaffected sibs tested in 4 families).

Few individuals had additional genetic findings in other genes, though classified as VUS (3 families).

The gene encodes transmembrane protein 222 (208 residues) which however has unknown function. The protein comprises 3 transmembrane domains and a domain of unknown function. TMEMs are a group of transmembrane proteins spanning membranes with - most commonly - unclear function.

The authors measured expression by qPCR mRNA analysis, demonstrating highest fetal and adult brain expression (incl. parietal and occipital cortex). Expression levels from GTEx data also support a role in neurodevelopment.

Immunocytochemistry revealed highest levels in mature human iPSC-derived glutaminergic cortical neurons and moderate in immature ones. Additional studies supported that the gene is highly expressed in dendrites and might play a role in postsynaptic vesicles (colocalization with postsynaptic and early endosomal markers).

A previous study by Riazuddin et al (2017 - PMID: 27457812) had identified TMEM222 as a candidate gene for ID. This family (PKMR213) however appears to be included as family 2 in the aforementioned publication (same pedigree, variant and phenotype in both articles).

In OMIM there is currently no associated phenotype.

The gene is listed among the primary ID genes in SysID.

Please consider inclusion in the ID panel with green (or amber) rating. This gene may also be included in other panels e.g. for epilepsy, microcephaly, etc.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3753 TMEM222 Konstantinos Varvagiannis gene: TMEM222 was added
gene: TMEM222 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to Motor delay; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Broad-based gait; Abnormality of nervous system morphology; Seizures; Microcephaly; Behavioral abnormality
Penetrance for gene: TMEM222 were set to Complete
Review for gene: TMEM222 was set to GREEN
Added comment: Polla et al (2021 - PMID: 33824500) report 17 individuals from 9 unrelated families, with biallelic TMEM222 pathogenic variants.

The phenotype included motor, speech delay and moderate to severe ID (as universal features). Other manifestations included hypotonia (10/15), broad gait (5/12), seizures (7/17 - belonging to 6/9 families), MRI abnormalities (5/8). Variable behavioral abnormalities were observed (aggressive behavior, shy character, stereotypic movements etc). Abnormal OFC was a feature in several with microcephaly in 7 subjects from 4 families (measurements not available for all 17). Nonspecific facial features were reported in 10/17. Rare features incl. body tremors, decreased lower extremity muscle mass or disorder of motor neurons.

TMEM222 variants were identified following exome sequencing. Previous investigations incl. metabolic studies, FMR1, chromosomes by standard karyotype or CMA, SMA, CMT1A were reported to be normal (available for some individuals).

TMEM222 variants missense and pLoF ones mostly found in homozygosity (7/9 families were consanguineous, compound heterozygosity reported in a single case from the 9 families). Sanger sequencing was used for confirmation of variants, parental carrier state as well as testing of sibs (unaffected sibs tested in 4 families).

Few individuals had additional genetic findings in other genes, though classified as VUS (3 families).

The gene encodes transmembrane protein 222 (208 residues) which however has unknown function. The protein comprises 3 transmembrane domains and a domain of unknown function. TMEMs are a group of transmembrane proteins spanning membranes with - most commonly - unclear function.

The authors measured expression by qPCR mRNA analysis, demonstrating highest fetal and adult brain expression (incl. parietal and occipital cortex). Expression levels from GTEx data also support a role in neurodevelopment.

Immunocytochemistry revealed highest levels in mature human iPSC-derived glutaminergic cortical neurons and moderate in immature ones. Additional studies supported that the gene is highly expressed in dendrites and might play a role in postsynaptic vesicles (colocalization with postsynaptic and early endosomal markers).

A previous study by Riazuddin et al (2017 - PMID: 27457812) had identified TMEM222 as a candidate gene for ID. This family (PKMR213) however appears to be included as family 2 in the aforementioned publication (same pedigree, variant and phenotype in both articles).

In OMIM there is currently no associated phenotype.

The gene is listed among the primary ID genes in SysID.

Please consider inclusion in the ID panel with green (or amber) rating. This gene may also be included in other panels e.g. for epilepsy, microcephaly, etc.
Sources: Literature
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Marked gene: CHD5 as ready
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Classified gene: CHD5 as Green List (high evidence)
Genetic Epilepsy v0.1077 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1076 CHD5 Zornitza Stark gene: CHD5 was added
gene: CHD5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy
Review for gene: CHD5 was set to GREEN
Added comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Sources: Literature
Mendeliome v0.7548 CHD5 Zornitza Stark Marked gene: CHD5 as ready
Mendeliome v0.7548 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Mendeliome v0.7548 CHD5 Zornitza Stark Classified gene: CHD5 as Green List (high evidence)
Mendeliome v0.7548 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Mendeliome v0.7547 CHD5 Zornitza Stark gene: CHD5 was added
gene: CHD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy
Review for gene: CHD5 was set to GREEN
Added comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Marked gene: CHD5 as ready
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Classified gene: CHD5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3753 CHD5 Zornitza Stark Gene: chd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3752 CHD5 Zornitza Stark gene: CHD5 was added
gene: CHD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy
Review for gene: CHD5 was set to GREEN
Added comment: 16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Sources: Literature
Mendeliome v0.7546 MME Zornitza Stark Marked gene: MME as ready
Mendeliome v0.7546 MME Zornitza Stark Gene: mme has been classified as Green List (High Evidence).
Mendeliome v0.7546 MME Zornitza Stark Phenotypes for gene: MME were changed from to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866; Spinocerebellar ataxia 43 MIM#617018
Mendeliome v0.7545 MME Zornitza Stark Publications for gene: MME were set to
Mendeliome v0.7544 MME Zornitza Stark Mode of inheritance for gene: MME was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7543 MME Zornitza Stark reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: None; Publications: 26991897, 27588448, 33144514, 31429185, 27583304; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017, MONDO:0014866, Spinocerebellar ataxia 43 MIM#617018; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.126 MME Zornitza Stark Marked gene: MME as ready
Hereditary Neuropathy_CMT - isolated v0.126 MME Zornitza Stark Gene: mme has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.126 MME Zornitza Stark Phenotypes for gene: MME were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2T, 617017 to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866
Hereditary Neuropathy_CMT - isolated v0.125 MME Zornitza Stark Publications for gene: MME were set to
Hereditary Neuropathy_CMT - isolated v0.124 MME Zornitza Stark Mode of inheritance for gene: MME was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.123 MME Zornitza Stark reviewed gene: MME: Rating: GREEN; Mode of pathogenicity: None; Publications: 26991897, 27588448, 33144514, 31429185; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017, MONDO:0014866; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.123 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Hereditary Neuropathy_CMT - isolated v0.123 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.123 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Hereditary motor and sensory neuropathy VI, 601152; Charcot Marie Tooth disease, type 2A2, 609260; HMSN to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Hereditary Neuropathy_CMT - isolated v0.122 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Intellectual disability syndromic and non-syndromic v0.3751 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, de novo dominant
Intellectual disability syndromic and non-syndromic v0.3750 FBXO31 Zornitza Stark Publications for gene: FBXO31 were set to 24623383; 32989326
Intellectual disability syndromic and non-syndromic v0.3749 FBXO31 Zornitza Stark Mode of inheritance for gene: FBXO31 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3748 FBXO31 Zornitza Stark Classified gene: FBXO31 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3748 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3747 FBXO31 Zornitza Stark changed review comment from: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.; to: AR ID: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Intellectual disability syndromic and non-syndromic v0.3747 FBXO31 Zornitza Stark edited their review of gene: FBXO31: Added comment: PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP, including ID.; Changed rating: GREEN; Changed publications: 24623383, 33675180, 32989326; Changed phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Spastic-dystonic cerebral palsy, de novo dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7543 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant
Mendeliome v0.7542 FBXO31 Zornitza Stark Classified gene: FBXO31 as Green List (high evidence)
Mendeliome v0.7542 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Green List (High Evidence).
Mendeliome v0.7541 FBXO31 Zornitza Stark changed review comment from: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list; to: AR intellectual disability: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list
Mendeliome v0.7541 FBXO31 Zornitza Stark edited their review of gene: FBXO31: Added comment: PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP.; Changed rating: GREEN; Changed publications: 24623383, 33675180, 32989326; Changed phenotypes: Mental retardation, autosomal recessive 45, MIM#615979, Spastic-dystonic cerebral palsy, de novo dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v0.60 FBXO31 Zornitza Stark Classified gene: FBXO31 as Green List (high evidence)
Cerebral Palsy v0.60 FBXO31 Zornitza Stark Gene: fbxo31 has been classified as Green List (High Evidence).
Cerebral Palsy v0.59 FBXO31 Zornitza Stark reviewed gene: FBXO31: Rating: GREEN; Mode of pathogenicity: None; Publications: 33675180; Phenotypes: Spastic-dystonic cerebral palsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amelogenesis imperfecta v0.1 Zornitza Stark Panel types changed to Rare Disease
Amelogenesis imperfecta v0.0 TUFT1 Zornitza Stark gene: TUFT1 was added
gene: TUFT1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUFT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUFT1 were set to 7919663
Phenotypes for gene: TUFT1 were set to amelogenesis imperfecta
Amelogenesis imperfecta v0.0 TP63 Zornitza Stark gene: TP63 was added
gene: TP63 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta
Amelogenesis imperfecta v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to 22683087
Phenotypes for gene: TMEM165 were set to amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, 617475
Amelogenesis imperfecta v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ1 were set to 23341834
Phenotypes for gene: KCNJ1 were set to Amelogenesis Imperfecta; Bartter syndrome, type 2, 241200
Amelogenesis imperfecta v0.0 SP6 Zornitza Stark gene: SP6 was added
gene: SP6 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SP6 were set to 18297738; 32167558; 18156176; 22676574
Phenotypes for gene: SP6 were set to Amelogenesis Imperfecta
Amelogenesis imperfecta v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 28944237
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872; enamel dysplasia; Heimler syndrome; Amelogenesis imperfecta
Amelogenesis imperfecta v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: LAMC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LAMC2 were set to 26956061
Phenotypes for gene: LAMC2 were set to Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700
Amelogenesis imperfecta v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ITGB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)
Amelogenesis imperfecta v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 27530400
Phenotypes for gene: CLDN19 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
Amelogenesis imperfecta v0.0 CLDN16 Zornitza Stark gene: CLDN16 was added
gene: CLDN16 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 26426912
Phenotypes for gene: CLDN16 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
Amelogenesis imperfecta v0.0 AMTN Zornitza Stark gene: AMTN was added
gene: AMTN was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: AMTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMTN were set to 27412008
Phenotypes for gene: AMTN were set to dominant hypomineralised AI; Amelogenesis imperfecta; ?Amelogenesis imperfecta, type IIIB, 617607; Amelogenesis imperfecta, hypomaturation type
Amelogenesis imperfecta v0.0 WDR72 Zornitza Stark gene: WDR72 was added
gene: WDR72 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 21196691; 27259663; 20938048; 26502894; 23293580; 25008349; 19853237
Phenotypes for gene: WDR72 were set to Amelogenesis Imperfecta, Type IIA3, 613211; Amelogenesis imperfecta, type IIA3, 613211; Amelogenesis Imperfecta, Recessive; Hypomaturation AI
Amelogenesis imperfecta v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 19420366; 26560041; 24621671; 22190180; 28732182
Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783
Amelogenesis imperfecta v0.0 SLC24A4 Zornitza Stark gene: SLC24A4 was added
gene: SLC24A4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A4 were set to 24621671; 25442250; 24532815; 26502894; 27129268; 23375655
Phenotypes for gene: SLC24A4 were set to Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 27261973; 26384929; 27600704; 24995870
Phenotypes for gene: SLC13A5 were set to Kohlsch tter-T nz syndrome(KTZS); Epileptic encephalopathy, early infantile, 25 615905; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 SLC10A7 Zornitza Stark gene: SLC10A7 was added
gene: SLC10A7 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 29878199; 30082715
Phenotypes for gene: SLC10A7 were set to short stature; amelogenesis imperfect hypo mineralised; skeletal dysplasia; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363; skeletal dysplasia and amelogenesis imperfecta; scoliosis
Amelogenesis imperfecta v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROGDI were set to 22482807; 28651123; 3236364; 22424600; 25565929; 23086778
Phenotypes for gene: ROGDI were set to Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome, 226750
Amelogenesis imperfecta v0.0 RELT Zornitza Stark gene: RELT was added
gene: RELT was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELT were set to 30506946
Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386
Amelogenesis imperfecta v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 26387595; 27302843; 16530715
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863
Amelogenesis imperfecta v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 26387595; 27633571; 27302843
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta
Amelogenesis imperfecta v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 26469693; 16582901; 20004786
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782
Amelogenesis imperfecta v0.0 MMP20 Zornitza Stark gene: MMP20 was added
gene: MMP20 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MMP20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP20 were set to 23625376; 26124219; 28659819; 19966041; 26502894; 28473773; 23355523; 18096894; 16246936; 15744043
Phenotypes for gene: MMP20 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive
Amelogenesis imperfecta v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP3 were set to 28084688; 25669657
Phenotypes for gene: LTBP3 were set to Dental anomalies and short stature, 601216; Amelogenesis Imperfecta; syndromic AI with brachyolmia
Amelogenesis imperfecta v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMB3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LAMB3 were set to 23958762; 7706760; 23632796; 26502894; 27220909; 25769099; 24494736
Phenotypes for gene: LAMB3 were set to Amelogenesis Imperfecta, Type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 26700; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Mode of pathogenicity for gene: LAMB3 was set to Other - please provide details in the comments
Amelogenesis imperfecta v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LAMA3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: LAMA3 were set to 22434185; 26502894; 27827380
Phenotypes for gene: LAMA3 were set to Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type
Amelogenesis imperfecta v0.0 KLK4 Zornitza Stark gene: KLK4 was added
gene: KLK4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678
Phenotypes for gene: KLK4 were set to Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700
Amelogenesis imperfecta v0.0 ITGB6 Zornitza Stark gene: ITGB6 was added
gene: ITGB6 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ITGB6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098
Phenotypes for gene: ITGB6 were set to Amelogenesis imperfecta, type IH, 616221; amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IH, 616221
Amelogenesis imperfecta v0.0 GPR68 Zornitza Stark gene: GPR68 was added
gene: GPR68 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GPR68 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR68 were set to 27693231
Phenotypes for gene: GPR68 were set to Amelogenesis imperfecta, hypomaturation type, IIA6, 617217
Amelogenesis imperfecta v0.0 FAM83H Zornitza Stark gene: FAM83H was added
gene: FAM83H was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM83H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM83H were set to 18484629; 19407157; 19825039; 26481691; 21702852; 20160442; 26142250; 22414746; 19828885; 19220331; 26502894; 18252228; 21597265; 21118793; 26788537; 26171361
Phenotypes for gene: FAM83H were set to Amelogenesis imperfecta, type III, 130900; Amelogenesis Imperfecta, Type III, 130900; Hypocalcified AI
Mode of pathogenicity for gene: FAM83H was set to Other - please provide details in the comments
Amelogenesis imperfecta v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 24982027; 20825432; 24458843; 20453638; 25928877; 27667191; 23325605; 27862258; 19250384; 17924334; 24039075
Phenotypes for gene: FAM20C were set to hypoplastic Amelogenesis Imperfecta; Raine Syndrome, 259775
Amelogenesis imperfecta v0.0 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20A were set to 23434854; 23697977; 23468644; 24756937; 21549343; 24259279; 24196488; 26502894; 25827751; 21990045
Phenotypes for gene: FAM20A were set to Amelogenesis Imperfecta, Type IG, 204690; Hypomieralised AI; Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690
Amelogenesis imperfecta v0.0 ENAM Zornitza Stark gene: ENAM was added
gene: ENAM was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ENAM were set to 14684688; 11978766; 12407086; 20439930; 25769099; 22540999; 25143514; 22029166; 19329462; 28334996; 26502894; 17316551; 21597265; 16246937; 15723871; 11487571
Phenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, 104500; Amelogenesis imperfecta, type IC, 204650; autosomal recessive amelogenesis imperfecta; Amelogenesis Imperfecta, Dominant
Amelogenesis imperfecta v0.0 DLX3 Zornitza Stark gene: DLX3 was added
gene: DLX3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 15666299; 23949819; 26104267; 21252474; 20151948; 9467018
Phenotypes for gene: DLX3 were set to amelogenesis imperfecta with taurodontism; hypoplastic AI, taurodontism and kinky hair; Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia); Amelogenesis Imperfecta, Dominant; Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic; Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510; Amelogenesis Imperfecta, Type IV, 104510
Amelogenesis imperfecta v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL17A1 were set to 26502894; 27558265; 8669466; 16820943
Phenotypes for gene: COL17A1 were set to non-Herlitz junctional epidermolysis bullosa (nH-JEB) and amelogenesis imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 CNNM4 Zornitza Stark gene: CNNM4 was added
gene: CNNM4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNNM4 were set to cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta)
Amelogenesis imperfecta v0.0 C4orf26 Zornitza Stark gene: C4orf26 was added
gene: C4orf26 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C4orf26 were set to 22901946; 27558265
Phenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta
Amelogenesis imperfecta v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMELX 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: AMELX were set to 17189466; 22243263; 7599636; 23251683; 1483698; 1916828; 9188994; 15111628; 11201048; 26502894; 7782077; 11922869; 28130977; 8406474; 11839357; 25117480; 19610109
Phenotypes for gene: AMELX were set to Amelogenesis imperfecta, type 1E, 301200; hypomaturation AI with variable hypoplastic foci; smooth hypoplastic AI; iX-linked hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 AMBN Zornitza Stark gene: AMBN was added
gene: AMBN was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: AMBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMBN were set to 24858907; 26502894
Phenotypes for gene: AMBN were set to Amelogenesis imperfecta, type IF, 616270
Amelogenesis imperfecta v0.0 ACP4 Zornitza Stark gene: ACP4 was added
gene: ACP4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP4 were set to 28513613; 27843125
Phenotypes for gene: ACP4 were set to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta v0.0 Zornitza Stark Added panel Amelogenesis imperfecta
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Marked gene: SPEG as ready
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Classified gene: SPEG as Green List (high evidence)
Cardiomyopathy_Paediatric v0.88 SPEG Zornitza Stark Gene: speg has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.87 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 32925938; 33794647
Phenotypes for gene: SPEG were set to Dilated cardiomyopathy; centronuclear myopathy
Review for gene: SPEG was set to GREEN
Added comment: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.
Sources: Literature
Mendeliome v0.7541 RCAN1 Zornitza Stark Marked gene: RCAN1 as ready
Mendeliome v0.7541 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7541 RCAN1 Zornitza Stark Classified gene: RCAN1 as Amber List (moderate evidence)
Mendeliome v0.7541 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7540 RCAN1 Zornitza Stark gene: RCAN1 was added
gene: RCAN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RCAN1 were set to 33863784
Phenotypes for gene: RCAN1 were set to FSGS; proteinuria
Review for gene: RCAN1 was set to AMBER
Added comment: Two families reported, some functional data.
Sources: Literature
Proteinuria v0.167 RCAN1 Zornitza Stark Marked gene: RCAN1 as ready
Proteinuria v0.167 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.167 RCAN1 Zornitza Stark Classified gene: RCAN1 as Amber List (moderate evidence)
Proteinuria v0.167 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.166 RCAN1 Zornitza Stark gene: RCAN1 was added
gene: RCAN1 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RCAN1 were set to 33863784
Phenotypes for gene: RCAN1 were set to FSGS; proteinuria
Review for gene: RCAN1 was set to AMBER
Added comment: Two families reported, some functional data.
Sources: Literature
Mendeliome v0.7539 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Mendeliome v0.7539 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Mendeliome v0.7539 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Multisystem inflammation; susceptibility to viral infections; monocytosis; susceptibility to mycobacterial infection
Mendeliome v0.7538 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Mendeliome v0.7538 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Mendeliome v0.7537 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655; 33876776
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported with multi-system inflammation and susceptibility to viral infections.

In addition, four indviduals from two unrelated kindreds reported with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis.
Sources: Literature
Callosome v0.287 DPYSL5 Zornitza Stark Marked gene: DPYSL5 as ready
Callosome v0.287 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Callosome v0.287 DPYSL5 Zornitza Stark Classified gene: DPYSL5 as Green List (high evidence)
Callosome v0.287 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Susceptibility to Viral Infections v0.74 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.73 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Susceptibility to Viral Infections. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported.
Sources: Literature
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.109 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Marked gene: UPB1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Gene: upb1 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.102 UPB1 Seb Lunke Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, 613161 (3) to Beta-ureidopropionase deficiency, MIM #613161
Mackenzie's Mission_Reproductive Carrier Screening v0.101 UPB1 Seb Lunke Publications for gene: UPB1 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.100 UPB1 Seb Lunke Classified gene: UPB1 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.100 UPB1 Seb Lunke Gene: upb1 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.71 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Marked gene: POLA1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Gene: pola1 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.70 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.99 POLA1 Seb Lunke Phenotypes for gene: POLA1 were changed from Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030
Mackenzie's Mission_Reproductive Carrier Screening v0.98 POLA1 Seb Lunke Classified gene: POLA1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.98 POLA1 Seb Lunke Gene: pola1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7536 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Mendeliome v0.7536 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mendeliome v0.7536 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Mendeliome v0.7536 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Marked gene: TBX22 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Gene: tbx22 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Classified gene: TBX22 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.97 TBX22 Seb Lunke Gene: tbx22 has been classified as Red List (Low Evidence).
Mendeliome v0.7535 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Marked gene: MBTPS1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Gene: mbtps1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Classified gene: MBTPS1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Added comment: Comment on list classification: Not quite enough for MM
Mackenzie's Mission_Reproductive Carrier Screening v0.96 MBTPS1 Seb Lunke Gene: mbtps1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Marked gene: COL2A1 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.95 COL2A1 Seb Lunke Phenotypes for gene: COL2A1 were changed from Otospondylomegaepiphyseal dysplasia, 215150 (3) to Spondyloperipheral dysplasia, MIM #271700
Mackenzie's Mission_Reproductive Carrier Screening v0.94 COL2A1 Seb Lunke Publications for gene: COL2A1 were set to
Autoinflammatory Disorders v0.107 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.93 COL2A1 Seb Lunke Mode of inheritance for gene: COL2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.92 COL2A1 Seb Lunke Classified gene: COL2A1 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.92 COL2A1 Seb Lunke Gene: col2a1 has been classified as Amber List (Moderate Evidence).
Inflammatory bowel disease v0.57 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Inflammatory bowel disease v0.57 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Marked gene: NYX as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Gene: nyx has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.56 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Inflammatory bowel disease v0.56 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.91 NYX Seb Lunke Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Marked gene: CLCN4 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Gene: clcn4 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.90 CLCN4 Seb Lunke Phenotypes for gene: CLCN4 were changed from Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive to Raynaud-Claes syndrome, MIM #300114
Inflammatory bowel disease v0.55 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.89 CLCN4 Seb Lunke Publications for gene: CLCN4 were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.88 CLCN4 Seb Lunke Mode of inheritance for gene: CLCN4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Marked gene: NEXMIF as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Gene: nexmif has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.87 NEXMIF Seb Lunke Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, 300912 (3) to Mental retardation, X-linked 98, MIM #300912
Mackenzie's Mission_Reproductive Carrier Screening v0.86 NEXMIF Seb Lunke Mode of inheritance for gene: NEXMIF was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Marked gene: NHS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Gene: nhs has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.85 NHS Seb Lunke Mode of inheritance for gene: NHS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Marked gene: COL4A5 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Gene: col4a5 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.84 COL4A5 Seb Lunke Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.7534 IL21R Zornitza Stark Marked gene: IL21R as ready
Mendeliome v0.7534 IL21R Zornitza Stark Gene: il21r has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Marked gene: IL21R as ready
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Gene: il21r has been classified as Green List (High Evidence).
Mendeliome v0.7534 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from to Immunodeficiency 56, MIM# 615207
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from Immunodeficiency 56, MIM# 615207 to Immunodeficiency 56, MIM# 615207
Combined Immunodeficiency v0.195 IL21R Zornitza Stark Phenotypes for gene: IL21R were changed from to Immunodeficiency 56, MIM# 615207
Mendeliome v0.7533 IL21R Zornitza Stark Publications for gene: IL21R were set to
Mendeliome v0.7532 IL21R Zornitza Stark Mode of inheritance for gene: IL21R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Marked gene: NTNG2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Gene: ntng2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.194 IL21R Zornitza Stark Publications for gene: IL21R were set to
Mendeliome v0.7531 IL21R Zornitza Stark reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: None; Publications: 33929673; Phenotypes: Immunodeficiency 56, MIM# 615207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Classified gene: NTNG2 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Added comment: Comment on list classification: Amber for MM due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.83 NTNG2 Seb Lunke Gene: ntng2 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.193 IL21R Zornitza Stark Mode of inheritance for gene: IL21R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Marked gene: EDA as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Gene: eda has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.82 EDA Seb Lunke Mode of inheritance for gene: EDA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Combined Immunodeficiency v0.192 IL21R Zornitza Stark reviewed gene: IL21R: Rating: GREEN; Mode of pathogenicity: None; Publications: 33929673; Phenotypes: Immunodeficiency 56, MIM# 615207; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Marked gene: MOGS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Added comment: Comment when marking as ready: Amber due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Gene: mogs has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Deleted their comment
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Classified gene: MOGS as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.81 MOGS Seb Lunke Gene: mogs has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Marked gene: MOGS as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Added comment: Comment when marking as ready: Remains red due to rarity
Mackenzie's Mission_Reproductive Carrier Screening v0.80 MOGS Seb Lunke Gene: mogs has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Marked gene: DYNC1I2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Classified gene: DYNC1I2 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.80 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 FITM2 Seb Lunke Marked gene: FITM2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.79 FITM2 Seb Lunke Gene: fitm2 has been classified as Red List (Low Evidence).
Mendeliome v0.7531 SCD Zornitza Stark Marked gene: SCD as ready
Mendeliome v0.7531 SCD Zornitza Stark Gene: scd has been classified as Red List (Low Evidence).
Mendeliome v0.7531 SCD Zornitza Stark Classified gene: SCD as Red List (low evidence)
Mendeliome v0.7531 SCD Zornitza Stark Gene: scd has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Marked gene: TMEM94 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Classified gene: TMEM94 as Amber List (moderate evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.79 TMEM94 Seb Lunke Gene: tmem94 has been classified as Amber List (Moderate Evidence).
Callosome v0.286 DPYSL5 Zornitza Stark gene: DPYSL5 was added
gene: DPYSL5 was added to Callosome. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Marked gene: DPYSL5 as ready
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Classified gene: DPYSL5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3747 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3746 DPYSL5 Zornitza Stark gene: DPYSL5 was added
gene: DPYSL5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development.
Sources: Literature
Mendeliome v0.7530 DPYSL5 Zornitza Stark Marked gene: DPYSL5 as ready
Mendeliome v0.7530 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Mendeliome v0.7530 DPYSL5 Zornitza Stark Classified gene: DPYSL5 as Green List (high evidence)
Mendeliome v0.7530 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Mendeliome v0.7529 SIN3B Zornitza Stark Marked gene: SIN3B as ready
Mendeliome v0.7529 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Marked gene: SIN3B as ready
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Mendeliome v0.7529 SIN3B Zornitza Stark Mode of inheritance for gene: SIN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7528 SIN3B Zornitza Stark Classified gene: SIN3B as Green List (high evidence)
Mendeliome v0.7528 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3745 SIN3B Zornitza Stark Mode of inheritance for gene: SIN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3744 SIN3B Zornitza Stark Classified gene: SIN3B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3744 SIN3B Zornitza Stark Gene: sin3b has been classified as Green List (High Evidence).
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Marked gene: VPS41 as ready
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Ataxia - paediatric v0.279 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.278 VPS41 Zornitza Stark gene: VPS41 was added
gene: VPS41 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS41 were set to 32808683; 33764426
Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability; ataxia; cerebellar atrophy
Review for gene: VPS41 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals.
Sources: Literature
Regression v0.326 VPS41 Zornitza Stark Marked gene: VPS41 as ready
Regression v0.326 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Marked gene: ZNF469 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Gene: znf469 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.78 ZNF469 Seb Lunke Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200 (3) to Brittle cornea syndrome 1, MIM #229200
Regression v0.326 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Regression v0.326 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.77 ZNF469 Seb Lunke Classified gene: ZNF469 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.77 ZNF469 Seb Lunke Gene: znf469 has been classified as Red List (Low Evidence).
Regression v0.325 VPS41 Zornitza Stark gene: VPS41 was added
gene: VPS41 was added to Regression. Sources: Literature
Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS41 were set to 32808683; 33764426
Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability
Review for gene: VPS41 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.
Sources: Literature
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Marked gene: FAM161A as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Gene: fam161a has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.76 FAM161A Seb Lunke Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 (3) to Retinitis pigmentosa 28, MIM #606068
Mackenzie's Mission_Reproductive Carrier Screening v0.75 FAM161A Seb Lunke Classified gene: FAM161A as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.75 FAM161A Seb Lunke Gene: fam161a has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Marked gene: IMPG2 as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Gene: impg2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.74 IMPG2 Seb Lunke Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, 613581 (3) to Retinitis pigmentosa 56, MIM #613801
Mackenzie's Mission_Reproductive Carrier Screening v0.73 IMPG2 Seb Lunke Classified gene: IMPG2 as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.73 IMPG2 Seb Lunke Gene: impg2 has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Marked gene: PDE6B as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Gene: pde6b has been classified as Red List (Low Evidence).
Dystonia - complex v0.179 VPS41 Zornitza Stark Publications for gene: VPS41 were set to 32808683
Mackenzie's Mission_Reproductive Carrier Screening v0.72 PDE6B Seb Lunke Phenotypes for gene: PDE6B were changed from Retinitis pigmentosa-40, 613801 (3) to Retinitis pigmentosa-40, MIM #613801
Dystonia - complex v0.178 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Dystonia - complex v0.178 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Dystonia - complex v0.177 VPS41 Zornitza Stark edited their review of gene: VPS41: Added comment: Another 9 individuals from 5 unrelated families reported. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.; Changed rating: GREEN; Changed publications: 32808683, 33764426
Mackenzie's Mission_Reproductive Carrier Screening v0.71 PDE6B Seb Lunke Classified gene: PDE6B as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.71 PDE6B Seb Lunke Gene: pde6b has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.3743 VPS41 Zornitza Stark Publications for gene: VPS41 were set to 32808683
Intellectual disability syndromic and non-syndromic v0.3742 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3742 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3741 VPS41 Zornitza Stark edited their review of gene: VPS41: Added comment: Another 9 individuals from 5 unrelated families reported.

Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.; Changed rating: GREEN; Changed publications: 32808683, 33764426
Mendeliome v0.7527 VPS41 Zornitza Stark Publications for gene: VPS41 were set to 32808683
Mendeliome v0.7526 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Mendeliome v0.7526 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3741 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Intellectual disability syndromic and non-syndromic v0.3740 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3740 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1075 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Genetic Epilepsy v0.1074 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Genetic Epilepsy v0.1074 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Clefting disorders v0.115 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Amber List (moderate evidence)
Clefting disorders v0.115 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7525 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Mendeliome v0.7524 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Mendeliome v0.7524 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Clefting disorders v0.114 ANKRD17 Zornitza Stark Publications for gene: ANKRD17 were set to
Clefting disorders v0.113 ANKRD17 Zornitza Stark Classified gene: ANKRD17 as Green List (high evidence)
Clefting disorders v0.113 ANKRD17 Zornitza Stark Gene: ankrd17 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Marked gene: JAG2 as ready
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Classified gene: JAG2 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v0.89 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.88 JAG2 Zornitza Stark gene: JAG2 was added
gene: JAG2 was added to Muscular dystrophy_Paediatric. Sources: Literature
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953
Phenotypes for gene: JAG2 were set to muscular dystrophy
Review for gene: JAG2 was set to GREEN
Added comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: Literature
Mendeliome v0.7523 JAG2 Zornitza Stark Marked gene: JAG2 as ready
Mendeliome v0.7523 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Mendeliome v0.7523 JAG2 Zornitza Stark Classified gene: JAG2 as Green List (high evidence)
Mendeliome v0.7523 JAG2 Zornitza Stark Gene: jag2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.94 NEPRO Zornitza Stark Classified gene: NEPRO as Amber List (moderate evidence)
Skeletal dysplasia v0.94 NEPRO Zornitza Stark Gene: nepro has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.93 NEPRO Zornitza Stark gene: NEPRO was added
gene: NEPRO was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 26633546; 29620724; 31250547
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853
Review for gene: NEPRO was set to AMBER
Added comment: PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant. PMID 31250547: 1 family with homozygous novel missense All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature
Mendeliome v0.7522 NEPRO Zornitza Stark Marked gene: NEPRO as ready
Mendeliome v0.7522 NEPRO Zornitza Stark Gene: nepro has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7522 NEPRO Zornitza Stark Classified gene: NEPRO as Amber List (moderate evidence)
Mendeliome v0.7522 NEPRO Zornitza Stark Gene: nepro has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.121 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15064763, 15549395, 16437557, 20008656; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087, Hereditary motor and sensory neuropathy VIA, MIM# 601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.70 LRSAM1 Zornitza Stark reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7521 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Mendeliome v0.7521 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Green List (High Evidence).
Mendeliome v0.7521 LRSAM1 Zornitza Stark Phenotypes for gene: LRSAM1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753
Mendeliome v0.7520 LRSAM1 Zornitza Stark Publications for gene: LRSAM1 were set to
Mendeliome v0.7519 LRSAM1 Zornitza Stark Mode of inheritance for gene: LRSAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7518 LRSAM1 Zornitza Stark reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.121 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Hereditary Neuropathy_CMT - isolated v0.121 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.121 LRSAM1 Zornitza Stark Phenotypes for gene: LRSAM1 were changed from Charcot Marie Toothe disease, axonal, type 2P, 614436; HMSN to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753; HMSN
Hereditary Neuropathy_CMT - isolated v0.120 LRSAM1 Zornitza Stark Publications for gene: LRSAM1 were set to
Hereditary Neuropathy_CMT - isolated v0.119 LRSAM1 Zornitza Stark reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7518 LITAF Zornitza Stark Marked gene: LITAF as ready
Mendeliome v0.7518 LITAF Zornitza Stark Gene: litaf has been classified as Green List (High Evidence).
Mendeliome v0.7518 LITAF Zornitza Stark Phenotypes for gene: LITAF were changed from to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995
Mendeliome v0.7517 LITAF Zornitza Stark Publications for gene: LITAF were set to
Mendeliome v0.7516 LITAF Zornitza Stark Mode of inheritance for gene: LITAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.119 LITAF Zornitza Stark Marked gene: LITAF as ready
Hereditary Neuropathy_CMT - isolated v0.119 LITAF Zornitza Stark Gene: litaf has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.119 LITAF Zornitza Stark Phenotypes for gene: LITAF were changed from HMSN; Charcot Marie Tooth disease, type 1C, 601098 to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995
Hereditary Neuropathy_CMT - isolated v0.118 LITAF Zornitza Stark Publications for gene: LITAF were set to
Hereditary Neuropathy_CMT - isolated v0.117 LITAF Zornitza Stark Mode of inheritance for gene: LITAF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7515 LITAF Zornitza Stark reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 12525712, 19541485, 23359569, 32665875, 28211240; Phenotypes: Charcot-Marie-Tooth disease, type 1C, MIM# 601098, MONDO:0010995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.116 LITAF Zornitza Stark reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 12525712, 19541485, 23359569, 32665875, 28211240; Phenotypes: Charcot-Marie-Tooth disease, type 1C, MIM# 601098, MONDO:0010995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.116 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Hereditary Neuropathy_CMT - isolated v0.116 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.116 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from Spastic paraplegia 10, autosomal dominant; Hereditary Neuropathies; HMSN to Hereditary Neuropathies; HMSN
Hereditary Neuropathy_CMT - isolated v0.115 KIF5A Zornitza Stark Publications for gene: KIF5A were set to
Hereditary Neuropathy_CMT - isolated v0.114 KIF5A Zornitza Stark reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057544, 29892902, 28902413, 26403765, 25695920, 25008398; Phenotypes: Neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.221 LSM7 Zornitza Stark Marked gene: LSM7 as ready
Leukodystrophy - paediatric v0.221 LSM7 Zornitza Stark Gene: lsm7 has been classified as Red List (Low Evidence).
Leukodystrophy - paediatric v0.221 LSM7 Zornitza Stark gene: LSM7 was added
gene: LSM7 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034
Phenotypes for gene: LSM7 were set to Leukodystrophy; fetal death
Review for gene: LSM7 was set to RED
Added comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants.
Sources: Literature
Mendeliome v0.7515 SLC3A1 Zornitza Stark Marked gene: SLC3A1 as ready
Mendeliome v0.7515 SLC3A1 Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence).
Mendeliome v0.7515 SLC3A1 Zornitza Stark Phenotypes for gene: SLC3A1 were changed from to Cystinuria, MIM# 220100
Mendeliome v0.7514 SLC3A1 Zornitza Stark Publications for gene: SLC3A1 were set to
Mendeliome v0.7513 SLC3A1 Zornitza Stark Mode of inheritance for gene: SLC3A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7512 SLC3A1 Zornitza Stark reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7512 LSM7 Bryony Thompson Marked gene: LSM7 as ready
Mendeliome v0.7512 LSM7 Bryony Thompson Gene: lsm7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Marked gene: PTPN4 as ready
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Mendeliome v0.7512 LSM7 Bryony Thompson Classified gene: LSM7 as Amber List (moderate evidence)
Mendeliome v0.7512 LSM7 Bryony Thompson Gene: lsm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7511 LSM7 Bryony Thompson gene: LSM7 was added
gene: LSM7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100034
Phenotypes for gene: LSM7 were set to Leukodystrophy; foetal death
Review for gene: LSM7 was set to AMBER
Added comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Classified gene: PTPN4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.3739 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3738 PTPN4 Bryony Thompson gene: PTPN4 was added
gene: PTPN4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PTPN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033
Phenotypes for gene: PTPN4 were set to Intellectual disability; developmental delay
Review for gene: PTPN4 was set to GREEN
Added comment: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
DOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature
Mendeliome v0.7510 PTPN4 Bryony Thompson Marked gene: PTPN4 as ready
Mendeliome v0.7510 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Mendeliome v0.7510 PTPN4 Bryony Thompson Classified gene: PTPN4 as Green List (high evidence)
Mendeliome v0.7510 PTPN4 Bryony Thompson Gene: ptpn4 has been classified as Green List (High Evidence).
Mendeliome v0.7509 PTPN4 Bryony Thompson gene: PTPN4 was added
gene: PTPN4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PTPN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033
Phenotypes for gene: PTPN4 were set to Intellectual disability; developmental delay
Review for gene: PTPN4 was set to GREEN
Added comment: >3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
DOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature
Mendeliome v0.7508 SLC3A1 Michelle Torres reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25964309; Phenotypes: Cystinuria (MIM#220100) AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_Isolated v1.9 ALMS1 Zornitza Stark Tag for review was removed from gene: ALMS1.
Deafness_Isolated v1.9 ALMS1 Zornitza Stark edited their review of gene: ALMS1: Added comment: The hearing loss is a relatively early feature, and the eye findings may not be recognised without sub specialist assessment, especially in infants/young children. Included for completeness, particularly for paediatric patients presenting early in the disease trajectory. Gene is included in GEL Hearing Loss panel for same reason.; Changed publications: 11941369, 17594715, 20301444
Mendeliome v0.7508 WFS1 Zornitza Stark Publications for gene: WFS1 were set to 25211237
Leukodystrophy - paediatric v0.220 POLR3K Zornitza Stark Tag founder tag was added to gene: POLR3K.
Mendeliome v0.7507 POLR3K Zornitza Stark Tag founder tag was added to gene: POLR3K.
Regression v0.324 POLR3K Zornitza Stark Tag founder tag was added to gene: POLR3K.
Regression v0.324 POLR3K Zornitza Stark Marked gene: POLR3K as ready
Regression v0.324 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Regression v0.324 POLR3K Zornitza Stark Classified gene: POLR3K as Amber List (moderate evidence)
Regression v0.324 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Regression v0.323 POLR3K Zornitza Stark gene: POLR3K was added
gene: POLR3K was added to Regression. Sources: Expert Review
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310
Review for gene: POLR3K was set to AMBER
Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review
Mendeliome v0.7507 POLR3K Zornitza Stark Marked gene: POLR3K as ready
Mendeliome v0.7507 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7507 POLR3K Zornitza Stark Classified gene: POLR3K as Amber List (moderate evidence)
Mendeliome v0.7507 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7506 POLR3K Zornitza Stark gene: POLR3K was added
gene: POLR3K was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310
Review for gene: POLR3K was set to AMBER
Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review
Leukodystrophy - paediatric v0.220 POLR3K Zornitza Stark Marked gene: POLR3K as ready
Leukodystrophy - paediatric v0.220 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.220 POLR3K Zornitza Stark Classified gene: POLR3K as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.220 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.219 POLR3K Zornitza Stark gene: POLR3K was added
gene: POLR3K was added to Leukodystrophy - paediatric. Sources: Expert Review
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310
Review for gene: POLR3K was set to AMBER
Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes.

Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review
Deafness_Isolated v1.9 ALMS1 Bryony Thompson Tag for review tag was added to gene: ALMS1.
Incidentalome v0.65 SNCB Eleanor Williams reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: None; Publications: 33760043; Phenotypes: Dementia, Lewy body, OMIM:127750; Mode of inheritance: None
Mendeliome v0.7505 WFS1 Eleanor Williams reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: Wolfram syndrome 1, OMIM:222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.114 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Hereditary Neuropathy_CMT - isolated v0.114 PMP22 Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.114 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Hereditary Neuropathy_CMT - isolated v0.114 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.114 KIF1A Zornitza Stark Publications for gene: KIF1A were set to
Hereditary Neuropathy_CMT - isolated v0.113 KIF1A Zornitza Stark reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820098, 28708278; Phenotypes: Neuropathy, hereditary sensory, type IIC, MIM# 614213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Stationary Night Blindness v0.11 SAG Zornitza Stark Marked gene: SAG as ready
Congenital Stationary Night Blindness v0.11 SAG Zornitza Stark Gene: sag has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.11 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi Disease; Retinitis pigmentosa 47; Congenital Stationary Night Blindness to Oguchi disease-1, MIM# 258100
Congenital Stationary Night Blindness v0.10 SAG Zornitza Stark Publications for gene: SAG were set to
Congenital Stationary Night Blindness v0.9 SAG Zornitza Stark reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670478, 9565049, 15234147; Phenotypes: Oguchi disease-1, MIM# 258100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7505 SAG Zornitza Stark Marked gene: SAG as ready
Mendeliome v0.7505 SAG Zornitza Stark Gene: sag has been classified as Green List (High Evidence).
Mendeliome v0.7505 SAG Zornitza Stark Phenotypes for gene: SAG were changed from to Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, MIM# 613758
Mendeliome v0.7504 SAG Zornitza Stark Publications for gene: SAG were set to
Mendeliome v0.7503 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7502 SAG Zornitza Stark reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670478, 9565049, 15234147, 28549094, 33047631; Phenotypes: Oguchi disease-1, MIM# 258100, Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.91 SAG Zornitza Stark Marked gene: SAG as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.91 SAG Zornitza Stark Gene: sag has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.91 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi disease-1, 258100; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.90 SAG Zornitza Stark Publications for gene: SAG were set to
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.89 SAG Zornitza Stark Classified gene: SAG as Amber List (moderate evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.89 SAG Zornitza Stark Gene: sag has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 SAG Zornitza Stark Tag founder tag was added to gene: SAG.
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.88 SAG Zornitza Stark reviewed gene: SAG: Rating: AMBER; Mode of pathogenicity: None; Publications: 28549094, 33047631; Phenotypes: Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Dominant v0.27 SAG Zornitza Stark Marked gene: SAG as ready
Retinitis pigmentosa_Autosomal Dominant v0.27 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.27 SAG Zornitza Stark Phenotypes for gene: SAG were changed from Oguchi disease - 1; Oguchi Disease; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758
Retinitis pigmentosa_Autosomal Dominant v0.26 SAG Zornitza Stark Publications for gene: SAG were set to 28549094
Retinitis pigmentosa_Autosomal Dominant v0.25 SAG Zornitza Stark Mode of inheritance for gene: SAG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Dominant v0.24 SAG Zornitza Stark Classified gene: SAG as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.24 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.23 SAG Zornitza Stark reviewed gene: SAG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3737 YWHAG Zornitza Stark Marked gene: YWHAG as ready
Intellectual disability syndromic and non-syndromic v0.3737 YWHAG Zornitza Stark Gene: ywhag has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3737 YWHAG Zornitza Stark Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)
Intellectual disability syndromic and non-syndromic v0.3736 YWHAG Zornitza Stark Publications for gene: YWHAG were set to
Intellectual disability syndromic and non-syndromic v0.3736 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1073 YWHAG Zornitza Stark Marked gene: YWHAG as ready
Genetic Epilepsy v0.1073 YWHAG Zornitza Stark Gene: ywhag has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1073 YWHAG Zornitza Stark Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)
Genetic Epilepsy v0.1072 YWHAG Zornitza Stark Publications for gene: YWHAG were set to 33393734; 33590706; 31926053; 33767733
Genetic Epilepsy v0.1072 YWHAG Zornitza Stark Publications for gene: YWHAG were set to 33393734; 33590706; 31926053; 33767733
Intellectual disability syndromic and non-syndromic v0.3735 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1072 YWHAG Zornitza Stark Publications for gene: YWHAG were set to
Intellectual disability syndromic and non-syndromic v0.3735 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3734 YWHAG Zornitza Stark reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1071 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1070 YWHAG Zornitza Stark reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7502 YWHAG Zornitza Stark Marked gene: YWHAG as ready
Mendeliome v0.7502 YWHAG Zornitza Stark Added comment: Comment when marking as ready: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia
Mendeliome v0.7502 YWHAG Zornitza Stark Gene: ywhag has been classified as Green List (High Evidence).
Mendeliome v0.7502 YWHAG Zornitza Stark Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)
Mendeliome v0.7501 YWHAG Zornitza Stark Publications for gene: YWHAG were set to
Mendeliome v0.7500 YWHAG Zornitza Stark Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7499 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175; 32207811
Mendeliome v0.7498 OCRL Zornitza Stark Marked gene: OCRL as ready
Mendeliome v0.7498 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Mendeliome v0.7498 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000
Mendeliome v0.7497 OCRL Zornitza Stark Publications for gene: OCRL were set to
Mendeliome v0.7496 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7495 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15627218, 9199559; Phenotypes: Dent disease 2, MIM# 300555, Lowe syndrome , MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.7495 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551
Mendeliome v0.7494 APOL1 Zornitza Stark Publications for gene: APOL1 were set to 29470556; 20647424; 24206458; 20635188
Incidentalome v0.65 HTT Zornitza Stark Marked gene: HTT as ready
Incidentalome v0.65 HTT Zornitza Stark Gene: htt has been classified as Green List (High Evidence).
Incidentalome v0.65 HTT Zornitza Stark Phenotypes for gene: HTT were changed from to Huntington disease, MIM# 143100
Incidentalome v0.64 HTT Zornitza Stark Publications for gene: HTT were set to
Incidentalome v0.63 HTT Zornitza Stark Mode of inheritance for gene: HTT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.62 HTT Zornitza Stark Tag STR tag was added to gene: HTT.
Incidentalome v0.62 HTT Zornitza Stark reviewed gene: HTT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease, MIM# 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3734 HTT Zornitza Stark Publications for gene: HTT were set to 26740508; 27329733
Intellectual disability syndromic and non-syndromic v0.3733 HTT Zornitza Stark edited their review of gene: HTT: Added comment: PMID 33432339: Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes.

Still only 2 cases reported to date ((PMID: 27329733/33432339 and 26740508) with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.; Changed publications: 26740508, 27329733, 33432339
Mendeliome v0.7493 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from Premature aging syndrome, Penttinen type, 601812 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812
Mendeliome v0.7492 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to 30573803; 26279204
Mendeliome v0.7491 PDGFRB Zornitza Stark reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007, Kosaki overgrowth syndrome, MIM# 616592, Myeloproliferative disorder with eosinophilia, MIM# 131440, Myofibromatosis, infantile, 1, MIM# 228550, Premature ageing syndrome, Penttinen type, MIM# 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.23 SAG Ain Roesley reviewed gene: SAG: Rating: AMBER; Mode of pathogenicity: None; Publications: 28549094, 33047631; Phenotypes: Retinitis pigmentosa; Mode of inheritance: None
Mendeliome v0.7491 YWHAG Ain Roesley reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: None
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.217 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from Short rib-polydactyly syndorme, type II to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Additional findings_Paediatric v0.216 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Additional findings_Paediatric v0.215 NEK1 Zornitza Stark Classified gene: NEK1 as Green List (high evidence)
Additional findings_Paediatric v0.215 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.214 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.147 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Renal Ciliopathies and Nephronophthisis v0.146 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Renal Ciliopathies and Nephronophthisis v0.145 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.144 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.65 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.65 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.65 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.64 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.63 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.62 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.277 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Ciliopathies v0.277 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Ciliopathies v0.277 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Ciliopathies v0.276 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Ciliopathies v0.275 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.274 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7491 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Mendeliome v0.7491 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Mendeliome v0.7491 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892
Mendeliome v0.7490 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Mendeliome v0.7489 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7488 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520, Amyotrophic lateral sclerosis, susceptibility to, 24, MIM# 617892; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7488 IL6ST Eleanor Williams reviewed gene: IL6ST: Rating: ; Mode of pathogenicity: None; Publications: 33517393; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.7488 OCRL Eleanor Williams changed review comment from: PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.; to: Genotype/Phenotype information:
PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.
Mendeliome v0.7488 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: Lowe syndrome, OMIM:309000; Mode of inheritance: None
Mendeliome v0.7488 APOL1 Eleanor Williams reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33517446; Phenotypes: {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551, {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551; Mode of inheritance: None
Incidentalome v0.62 HTT Eleanor Williams changed review comment from: PMID: 33432339 - Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes.

Still only 2 cases reported to date with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.; to: PMID: 33432339 - Jung et al 2021 - further characterisation of the family previously reported in PMID: 27329733 (Rodan et al 2016) - using WGS they confirm they are the most likely cause of the LOMARS phenotype and clarify their locations as NM_002111.8(HTT): c.8157T>A (p.Phe2719Leu) and NM_002111.8(HTT)c.4469+1G>A (Note there are incorrect Clinvar entries). Functional studies show them each to be a hypomorphic mutation, resulting in severe deficiency of huntingtin in compound heterozygotes.

Still only 2 cases reported to date ((PMID: 27329733/33432339 and 26740508) with biallelic LOF variants in HTT associated with the LOMARS phenotype although this study add further weight with some functional data.
Incidentalome v0.62 HTT Eleanor Williams reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33432339, 27329733, 26740508; Phenotypes: Lopes-Maciel-Rodan syndrome OMIM:617435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7488 PDGFRB Eleanor Williams reviewed gene: PDGFRB: Rating: ; Mode of pathogenicity: None; Publications: 33450762; Phenotypes: Ocular pterygium-digital keloid dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.7488 NEK1 Eleanor Williams reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33445179; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Proteinuria v0.165 INF2 Zornitza Stark Marked gene: INF2 as ready
Proteinuria v0.165 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Proteinuria v0.165 INF2 Zornitza Stark Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237
Proteinuria v0.164 INF2 Zornitza Stark Publications for gene: INF2 were set to
Proteinuria v0.163 INF2 Zornitza Stark Mode of inheritance for gene: INF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.162 INF2 Zornitza Stark reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269, 20023659; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455, Glomerulosclerosis, focal segmental, 5, MIM# 613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7488 INF2 Zornitza Stark Marked gene: INF2 as ready
Mendeliome v0.7488 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Mendeliome v0.7488 INF2 Zornitza Stark Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237
Mendeliome v0.7487 INF2 Zornitza Stark Publications for gene: INF2 were set to
Mendeliome v0.7486 INF2 Zornitza Stark Mode of inheritance for gene: INF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7485 INF2 Zornitza Stark reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269, 20023659; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455, Glomerulosclerosis, focal segmental, 5, MIM# 613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.113 INF2 Zornitza Stark Marked gene: INF2 as ready
Hereditary Neuropathy_CMT - isolated v0.113 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.113 INF2 Zornitza Stark Publications for gene: INF2 were set to
Hereditary Neuropathy_CMT - isolated v0.112 INF2 Zornitza Stark changed review comment from: Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.

Nine variants reported in 12 individuals. All were located in exons 2 and 3, which encode the diaphanous inhibitory domain (DID), and most of them were between nucleotides 300 and 500 in the second and third armadillo repeats. These variants were located in distinct areas from those associated with isolated FSGS5.; to: Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.

Nine variants reported in 12 individuals in the initial publication PMID 22187985. All were located in exons 2 and 3, which encode the diaphanous inhibitory domain (DID), and most of them were between nucleotides 300 and 500 in the second and third armadillo repeats. These variants were located in distinct areas from those associated with isolated FSGS5.
Hereditary Neuropathy_CMT - isolated v0.112 INF2 Zornitza Stark reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.112 HSPB8 Zornitza Stark Marked gene: HSPB8 as ready
Hereditary Neuropathy_CMT - isolated v0.112 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.112 HSPB8 Zornitza Stark Publications for gene: HSPB8 were set to
Hereditary Neuropathy_CMT - isolated v0.111 HSPB8 Zornitza Stark Mode of inheritance for gene: HSPB8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.110 HSPB8 Zornitza Stark reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 15122253, 15565283, 29029362, 28780615, 28144995, 26718575; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673, Neuronopathy, distal hereditary motor, type IIA , MIM#158590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Marked gene: MED25 as ready
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from Charcot-Marie-Tooth disease to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Additional findings_Paediatric v0.213 MED25 Zornitza Stark Publications for gene: MED25 were set to
Additional findings_Paediatric v0.212 MED25 Zornitza Stark Classified gene: MED25 as Green List (high evidence)
Additional findings_Paediatric v0.212 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.211 MED25 Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7485 MED25 Zornitza Stark changed review comment from: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities.

7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.; to: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in intellectual disability, as well as variable eye, brain, cardiac, and palatal abnormalities.

7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.
Intellectual disability syndromic and non-syndromic v0.3733 MED25 Zornitza Stark Marked gene: MED25 as ready
Intellectual disability syndromic and non-syndromic v0.3733 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3733 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Intellectual disability syndromic and non-syndromic v0.3732 MED25 Zornitza Stark Publications for gene: MED25 were set to
Intellectual disability syndromic and non-syndromic v0.3731 MED25 Zornitza Stark Mode of inheritance for gene: MED25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.3730 MED25 Zornitza Stark Tag founder tag was added to gene: MED25.
Intellectual disability syndromic and non-syndromic v0.3730 MED25 Zornitza Stark changed review comment from: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. 7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.; to: Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in intellectual disability, as well as variable eye, brain, cardiac, and palatal abnormalities. 7 individuals from 4 families reported initially, founder variant p.Tyr39Cys. Over 20 individuals reported since, including other variants.
Intellectual disability syndromic and non-syndromic v0.3730 MED25 Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7485 MED25 Zornitza Stark Marked gene: MED25 as ready
Mendeliome v0.7485 MED25 Zornitza Stark Gene: med25 has been classified as Green List (High Evidence).
Mendeliome v0.7485 MED25 Zornitza Stark Phenotypes for gene: MED25 were changed from to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Mendeliome v0.7484 MED25 Zornitza Stark Publications for gene: MED25 were set to
Mendeliome v0.7483 MED25 Zornitza Stark Mode of inheritance for gene: MED25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7482 MED25 Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.110 MED25 Zornitza Stark Marked gene: MED25 as ready
Hereditary Neuropathy_CMT - isolated v0.110 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.110 SH3BP4 Zornitza Stark Marked gene: SH3BP4 as ready
Hereditary Neuropathy_CMT - isolated v0.110 SH3BP4 Zornitza Stark Gene: sh3bp4 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.110 SH3BP4 Zornitza Stark Mode of inheritance for gene: SH3BP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.109 HSPB1 Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7482 HSPB1 Zornitza Stark Marked gene: HSPB1 as ready
Mendeliome v0.7482 HSPB1 Zornitza Stark Gene: hspb1 has been classified as Green List (High Evidence).
Mendeliome v0.7482 HSPB1 Zornitza Stark Phenotypes for gene: HSPB1 were changed from to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080
Mendeliome v0.7481 HSPB1 Zornitza Stark Publications for gene: HSPB1 were set to
Mendeliome v0.7480 HSPB1 Zornitza Stark Mode of inheritance for gene: HSPB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7479 HSPB1 Zornitza Stark reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21785432, 15122254, 18832141, 32639100, 32334137; Phenotypes: Charcot Marie Tooth disease, axonal, type 2F, 606595, MONDO:0011687, Neuropathy, distal hereditary motor, type IIB, 608634, MONDO:0012080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.108 HSPB1 Zornitza Stark Marked gene: HSPB1 as ready
Hereditary Neuropathy_CMT - isolated v0.108 HSPB1 Zornitza Stark Gene: hspb1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.108 HSPB1 Zornitza Stark Phenotypes for gene: HSPB1 were changed from Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634 to Charcot Marie Tooth disease, axonal, type 2F, 606595; MONDO:0011687; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634; MONDO:0012080
Hereditary Neuropathy_CMT - isolated v0.107 HSPB1 Zornitza Stark Publications for gene: HSPB1 were set to
Hereditary Neuropathy_CMT - isolated v0.106 HSPB1 Zornitza Stark reviewed gene: HSPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21785432, 15122254, 18832141, 32639100, 32334137; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2F, MIM# 606595, Neuronopathy, distal hereditary motor, type IIB, MIM# 608634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.106 HK1 Zornitza Stark Publications for gene: HK1 were set to 19536174
Mackenzie's Mission_Reproductive Carrier Screening v0.70 HK1 Zornitza Stark reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19536174, 26822750; Phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.105 HK1 Zornitza Stark Marked gene: HK1 as ready
Hereditary Neuropathy_CMT - isolated v0.105 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.105 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from HMSN; Hemolytic anemia due to hexokinase deficiency, 235700; Neuropathy, hereditary motor and sensory, Russe type, 605285 to HMSN; Neuropathy, hereditary motor and sensory, Russe type, 605285
Hereditary Neuropathy_CMT - isolated v0.104 HK1 Zornitza Stark Publications for gene: HK1 were set to
Hereditary Neuropathy_CMT - isolated v0.103 HK1 Zornitza Stark Tag 5'UTR tag was added to gene: HK1.
Tag founder tag was added to gene: HK1.
Hereditary Neuropathy_CMT - isolated v0.103 HK1 Zornitza Stark reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19536174; Phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.103 PMP2 Zornitza Stark Marked gene: PMP2 as ready
Hereditary Neuropathy_CMT - isolated v0.103 PMP2 Zornitza Stark Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.103 PMP2 Zornitza Stark Publications for gene: PMP2 were set to
Hereditary Neuropathy_CMT - isolated v0.102 PMP2 Zornitza Stark Mode of inheritance for gene: PMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7479 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Mendeliome v0.7479 HINT1 Zornitza Stark Gene: hint1 has been classified as Green List (High Evidence).
Mendeliome v0.7479 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646
Mendeliome v0.7478 HINT1 Zornitza Stark Publications for gene: HINT1 were set to
Mendeliome v0.7477 HINT1 Zornitza Stark Mode of inheritance for gene: HINT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7476 HINT1 Zornitza Stark reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22961002, 33663550, 33404983, 31848916; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.101 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Hereditary Neuropathy_CMT - isolated v0.101 HINT1 Zornitza Stark Gene: hint1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.101 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from HMSN, dHMN/dSMA; Autosomal recessive axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646; HMSN, dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.100 HINT1 Zornitza Stark Publications for gene: HINT1 were set to
Hereditary Neuropathy_CMT - isolated v0.99 HINT1 Zornitza Stark edited their review of gene: HINT1: Changed phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646
Hereditary Neuropathy_CMT - isolated v0.99 HINT1 Zornitza Stark reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22961002, 33663550, 33404983, 31848916; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.99 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Hereditary Neuropathy_CMT - isolated v0.99 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark changed review comment from: Four unrelated families reported.; to: Four unrelated families reported.

New HGNC approved name is HARS1.
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Tag new gene name tag was added to gene: HARS.
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Marked gene: HARS as ready
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Gene: hars has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.99 HARS Zornitza Stark Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2w; HMSN to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; MONDO:0014711; HMSN
Hereditary Neuropathy_CMT - isolated v0.98 HARS Zornitza Stark Publications for gene: HARS were set to
Mendeliome v0.7476 GNB4 Zornitza Stark Marked gene: GNB4 as ready
Mendeliome v0.7476 GNB4 Zornitza Stark Gene: gnb4 has been classified as Green List (High Evidence).
Mendeliome v0.7476 GNB4 Zornitza Stark Phenotypes for gene: GNB4 were changed from to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074
Mendeliome v0.7475 GNB4 Zornitza Stark Publications for gene: GNB4 were set to
Mendeliome v0.7474 GNB4 Zornitza Stark Mode of inheritance for gene: GNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7473 GNB4 Zornitza Stark reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434117, 28642160, 27908631; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185, MONDO:0014074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.97 GNB4 Zornitza Stark Marked gene: GNB4 as ready
Hereditary Neuropathy_CMT - isolated v0.97 GNB4 Zornitza Stark Gene: gnb4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.97 GNB4 Zornitza Stark Phenotypes for gene: GNB4 were changed from Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN
Hereditary Neuropathy_CMT - isolated v0.96 GNB4 Zornitza Stark Publications for gene: GNB4 were set to
Hereditary Neuropathy_CMT - isolated v0.95 GNB4 Zornitza Stark reviewed gene: GNB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23434117, 28642160, 27908631; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185, MONDO:0014074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.69 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; MONDO:0010549
Deafness_IsolatedAndComplex v1.68 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Deafness_IsolatedAndComplex v1.67 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 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)
Mendeliome v0.7473 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Mendeliome v0.7473 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Mendeliome v0.7473 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; reversible posterior leukoencephalopathy
Deafness_IsolatedAndComplex v1.66 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.7472 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Mendeliome v0.7471 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 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 v0.7470 NEPRO Chern Lim gene: NEPRO was added
gene: NEPRO was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 26633546; 29620724; 31250547
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, MIM618853
Review for gene: NEPRO was set to AMBER
Added comment: PMIDs 26633546, 29620724: 2 families with the same homozygous missense variant, haplotype analysis confirmed the founder nature of the variant.

PMID 31250547: 1 family with homozygous novel missense

All 5 affected individuals have severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. They also have short metacarpals, broad middle phalanges, and metaphyseal irregularities. No functional studies.
Sources: Literature
Deafness_IsolatedAndComplex v1.65 GJB1 Zornitza Stark Classified gene: GJB1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.65 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Mendeliome v0.7470 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8266101, 17100997, 17353473, 31842800; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800, MONDO:0010549, reversible posterior leukoencephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy_CMT - isolated v0.95 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Hereditary Neuropathy_CMT - isolated v0.95 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.95 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; HMSN to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; HMSN
Hereditary Neuropathy_CMT - isolated v0.94 GJB1 Zornitza Stark Publications for gene: GJB1 were set to
Hereditary Neuropathy_CMT - isolated v0.93 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8266101, 17100997, 17353473; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800, MONDO:0010549; 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 v0.622 MT-RNR1 Zornitza Stark Publications for gene: MT-RNR1 were set to
Mitochondrial disease v0.621 MT-RNR1 Chern Lim reviewed gene: MT-RNR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301595; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Hereditary Neuropathy_CMT - isolated v0.93 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Hereditary Neuropathy_CMT - isolated v0.93 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.93 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228; HMSN to Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640; HMSN
Hereditary Neuropathy_CMT - isolated v0.92 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Hereditary Neuropathy_CMT - isolated v0.91 FIG4 Zornitza Stark edited their review of gene: FIG4: Changed phenotypes: Charcot-Marie-Tooth disease, type 4J, MIM# 611228, MONDO:0012640
Hereditary Neuropathy_CMT - isolated v0.91 FIG4 Zornitza Stark reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17572665, 21705420, 24878229; Phenotypes: Charcot-Marie-Tooth disease, type 4J, MIM# 611228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7470 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Mendeliome v0.7470 FGD4 Zornitza Stark Gene: fgd4 has been classified as Green List (High Evidence).
Mendeliome v0.7470 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250
Mendeliome v0.7469 FGD4 Zornitza Stark Publications for gene: FGD4 were set to
Mendeliome v0.7468 FGD4 Zornitza Stark Mode of inheritance for gene: FGD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7467 FGD4 Zornitza Stark reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957; Phenotypes: Charcot Marie Tooth disease, type 4H, 609311, MONDO:0012250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.91 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Hereditary Neuropathy_CMT - isolated v0.91 FGD4 Zornitza Stark Gene: fgd4 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.91 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot Marie Tooth disease, type 4H, 609311; HMSN to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN
Hereditary Neuropathy_CMT - isolated v0.90 FGD4 Zornitza Stark Publications for gene: FGD4 were set to
Hereditary Neuropathy_CMT - isolated v0.89 FGD4 Zornitza Stark reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957; Phenotypes: Charcot-Marie-Tooth disease, type 4H, MIM# 609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autonomic neuropathy v0.44 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 to Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Autonomic neuropathy v0.43 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Autonomic neuropathy v0.42 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 11179021, 17644305; Phenotypes: Dysautonomia, familial, MIM# 223900, Riley-Day syndrome MONDO:0009131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.89 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.88 ELP1 Zornitza Stark Publications for gene: ELP1 were set to
Hereditary Neuropathy_CMT - isolated v0.87 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 11179021, 17644305; Phenotypes: Dysautonomia, familial, MIM# 223900, Riley-Day syndrome MONDO:0009131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.87 DST Zornitza Stark Marked gene: DST as ready
Hereditary Neuropathy_CMT - isolated v0.87 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.87 DST Zornitza Stark Phenotypes for gene: DST were changed from Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.86 DST Zornitza Stark Phenotypes for gene: DST were changed from Hereditary Sensory and Autonomic Neuropathy, Type VI; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.85 DST Zornitza Stark Publications for gene: DST were set to
Mendeliome v0.7467 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Mendeliome v0.7467 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Mendeliome v0.7467 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467
Mendeliome v0.7466 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Mendeliome v0.7465 COX6A1 Zornitza Stark Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7464 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467
Mitochondrial disease v0.620 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Mitochondrial disease v0.619 COX6A1 Zornitza Stark Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.84 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Hereditary Neuropathy_CMT - isolated v0.84 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.84 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from Charcot Marie Tooth disease, recessive intermediate D, 616039; HMSN to Charcot Marie Tooth disease, recessive intermediate D, 616039; MONDO:0014467; HMSN
Hereditary Neuropathy_CMT - isolated v0.83 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Hereditary Neuropathy_CMT - isolated v0.82 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate D, MIM# 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.82 DNMT1 Zornitza Stark Marked gene: DNMT1 as ready
Hereditary Neuropathy_CMT - isolated v0.82 DNMT1 Zornitza Stark Gene: dnmt1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.82 DNMT1 Zornitza Stark Publications for gene: DNMT1 were set to
Hereditary Neuropathy_CMT - isolated v0.81 CHCHD10 Zornitza Stark Marked gene: CHCHD10 as ready
Hereditary Neuropathy_CMT - isolated v0.81 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.81 CHCHD10 Zornitza Stark Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type: 615048; dHMN/dSMA to Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.80 CHCHD10 Zornitza Stark Publications for gene: CHCHD10 were set to
Hereditary Neuropathy_CMT - isolated v0.79 CHCHD10 Zornitza Stark Tag founder tag was added to gene: CHCHD10.
Hereditary Neuropathy_CMT - isolated v0.79 CHCHD10 Zornitza Stark reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22535186, 27066538; Phenotypes: Spinal muscular atrophy, Jokela type, MIM# 615048, CMT2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7464 JAG2 Belinda Chong gene: JAG2 was added
gene: JAG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to PMID: 33861953
Phenotypes for gene: JAG2 were set to muscular dystrophy
Review for gene: JAG2 was set to GREEN
Added comment: Whole-exome sequencing identified 13 families with rare homozygous or compound heterozygous JAG2 variants. Bi-allelic variants include 10 missense variants that disrupt highly conserved amino acids, a nonsense variant, two frameshift variants, an in-frame deletion, and a microdeletion encompassing JAG2. Onset of muscle weakness occurred from infancy to young adulthood. Serum creatine kinase (CK) levels were normal or mildly elevated. Muscle histology was primarily dystrophic. MRI of the lower extremities revealed a distinct, slightly asymmetric pattern of muscle involvement with cores of preserved and affected muscles in quadriceps and tibialis anterior, in some cases resembling patterns seen in POGLUT1-associated muscular dystrophy.
Sources: Literature
Clefting disorders v0.112 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.3730 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Genetic Epilepsy v0.1070 ANKRD17 Paul De Fazio changed review comment from: 34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay.; to: 34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay. Epilepsy reported in 9/33.
Mendeliome v0.7464 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: None; Current diagnostic: yes
Genetic Epilepsy v0.1070 ANKRD17 Paul De Fazio reviewed gene: ANKRD17: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909992; Phenotypes: Intellectual disability, speech delay, and dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.7464 VPS41 Kristin Rigbye edited their review of gene: VPS41: Changed phenotypes: Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Mendeliome v0.7464 VPS41 Kristin Rigbye changed review comment from: "Five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function."; to: "Five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function."

"Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia were present in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay. Two siblings further presented with therapy-resistant epilepsy. No major dysmorphic features were found. In two individuals, retinal pigment alterations were noticed. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals while in one case (Subject 9) bilateral hyperintensities at the nucleus caudatus area were noted. No hearing or vision problems were noted and in cases where nerve conduction studies were performed, these were normal. Transmission electron microscopy (TEM) on peripheral blood lymphocytes from Subject 2 and lymphoblastoid cells from Subject 3 revealed more multilayered vesicles compared to control cells."
Intellectual disability syndromic and non-syndromic v0.3730 SIN3B Elena Savva gene: SIN3B was added
gene: SIN3B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3B were set to PMID: 33811806
Phenotypes for gene: SIN3B were set to Syndromic intellectual disability/autism spectrum disorder
Review for gene: SIN3B was set to GREEN
Added comment: PMID: 33811806
- 9 affected patients, all de novo (2 PTCs, 2 missense, multigenic CNVs)
- syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant ASD, congenital malformations, corpus callosum defects, and impaired growth.
- All SNV carriers had mild/mod ID
Sources: Literature
Mendeliome v0.7464 SIN3B Elena Savva gene: SIN3B was added
gene: SIN3B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3B were set to PMID: 33811806
Phenotypes for gene: SIN3B were set to Syndromic intellectual disability/autism spectrum disorder
Review for gene: SIN3B was set to GREEN
Added comment: PMID: 33811806
- 9 affected patients, all de novo (2 PTCs, 2 missense, multigenic CNVs)
- syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant ASD, congenital malformations, corpus callosum defects, and impaired growth.
- CNVs encompassing the gene have been found
Sources: Literature
Mendeliome v0.7464 DPYSL5 Michelle Torres gene: DPYSL5 was added
gene: DPYSL5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development
Sources: Literature
Mendeliome v0.7464 VPS41 Kristin Rigbye reviewed gene: VPS41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33764426; Phenotypes: Progressive neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7464 SCD Elena Savva gene: SCD was added
gene: SCD was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCD were set to PMID: 33690217; 10899171
Phenotypes for gene: SCD were set to Adrenoleukodystrophy
Review for gene: SCD was set to RED
Added comment: PMID: 33690217 zebrafish K/O mimics the motor phenotype of ALD zebrafish

PMID: 10899171 null mouse was deficient in hepatic cholesterol esters and triglycerides despite the presence of normal activities of acyl-CoA, very low levels of triglycerides
Sources: Literature
Mendeliome v0.7464 CDC40 Zornitza Stark Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM# 619302; microcephaly; seizures
Mendeliome v0.7463 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed phenotypes: Pontocerebellar hypoplasia, type 15, MIM# 619302, microcephaly, seizures
Cerebellar and Pontocerebellar Hypoplasia v1.8 CDC40 Zornitza Stark Phenotypes for gene: CDC40 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 15, MIM# 619302; microcephaly; seizures
Cerebellar and Pontocerebellar Hypoplasia v1.7 CDC40 Zornitza Stark edited their review of gene: CDC40: Changed phenotypes: Pontocerebellar hypoplasia, type 15, MIM# 619302, microcephaly, seizures
Intellectual disability syndromic and non-syndromic v0.3730 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Intellectual disability syndromic and non-syndromic v0.3729 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Genetic Epilepsy v0.1070 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Genetic Epilepsy v0.1069 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Microcephaly v1.9 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Microcephaly v1.8 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Mendeliome v0.7463 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Mendeliome v0.7462 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Cerebellar and Pontocerebellar Hypoplasia v1.7 PPIL1 Zornitza Stark Phenotypes for gene: PPIL1 were changed from Pontocerebellar hypoplasia; microcephaly; seizures to Pontocerebellar hypoplasia, type 14, MIM# 619301; microcephaly; seizures
Cerebellar and Pontocerebellar Hypoplasia v1.6 PPIL1 Zornitza Stark edited their review of gene: PPIL1: Changed phenotypes: Pontocerebellar hypoplasia, type 14, MIM# 619301, microcephaly, seizures
Hereditary Neuropathy_CMT - isolated v0.79 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Hereditary Neuropathy_CMT - isolated v0.79 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.79 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, MIM# 619112
Hereditary Neuropathy_CMT - isolated v0.78 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Hereditary Neuropathy_CMT - isolated v0.77 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14981520, 15732094; Phenotypes: Neuropathy, distal hereditary motor, type VC, MIM# 619112; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7462 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Mendeliome v0.7462 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Mendeliome v0.7462 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
Mendeliome v0.7461 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Mendeliome v0.7460 BICD2 Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7459 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.77 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Hereditary Neuropathy_CMT - isolated v0.77 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.77 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290; dHMN/dSMA to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.76 BICD2 Zornitza Stark Publications for gene: BICD2 were set to
Hereditary Neuropathy_CMT - isolated v0.75 BICD2 Zornitza Stark edited their review of gene: BICD2: Changed phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, MONDO:0014121, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
Hereditary Neuropathy_CMT - isolated v0.75 BICD2 Zornitza Stark reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664116, 23664119, 23664120, 27751653, 28635954, 30054298, 29528393; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3729 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome, MIM#619293
Mendeliome v0.7459 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome, MIM#619293
Blepharophimosis v0.28 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from Blepharophimosis-intellectual disability syndrome (BIS) to Blepharophimosis-intellectual disability syndrome (BIS), MIM#619293
Dystonia - isolated/combined v1.3 VPS16 Zornitza Stark Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291
Dystonia - complex v0.177 VPS16 Zornitza Stark Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291
Dystonia - complex v0.176 VPS16 Zornitza Stark edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291
Mendeliome v0.7458 VPS16 Zornitza Stark Phenotypes for gene: VPS16 were changed from Dystonia to Dystonia 30, MIM#619291
Mendeliome v0.7457 VPS16 Zornitza Stark edited their review of gene: VPS16: Changed phenotypes: Dystonia 30, MIM#619291
Intellectual disability syndromic and non-syndromic v0.3728 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Intellectual disability syndromic and non-syndromic v0.3728 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3728 KCNQ5 Zornitza Stark Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601
Intellectual disability syndromic and non-syndromic v0.3727 KCNQ5 Zornitza Stark Publications for gene: KCNQ5 were set to
Intellectual disability syndromic and non-syndromic v0.3726 KCNQ5 Zornitza Stark Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.3725 KCNQ5 Zornitza Stark reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1069 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Genetic Epilepsy v0.1069 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1069 KCNQ5 Zornitza Stark Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601
Genetic Epilepsy v0.1068 KCNQ5 Zornitza Stark Publications for gene: KCNQ5 were set to
Genetic Epilepsy v0.1067 KCNQ5 Zornitza Stark Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1066 KCNQ5 Zornitza Stark reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7457 KCNQ5 Zornitza Stark Marked gene: KCNQ5 as ready
Mendeliome v0.7457 KCNQ5 Zornitza Stark Gene: kcnq5 has been classified as Green List (High Evidence).
Mendeliome v0.7457 KCNQ5 Zornitza Stark Phenotypes for gene: KCNQ5 were changed from to Mental retardation, autosomal dominant 46, MIM# 617601
Mendeliome v0.7456 KCNQ5 Zornitza Stark Publications for gene: KCNQ5 were set to
Mendeliome v0.7455 KCNQ5 Zornitza Stark Mode of inheritance for gene: KCNQ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7454 KCNQ5 Zornitza Stark reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669405, 30359776; Phenotypes: Mental retardation, autosomal dominant 46, MIM# 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7454 KCNK9 Zornitza Stark Marked gene: KCNK9 as ready
Mendeliome v0.7454 KCNK9 Zornitza Stark Gene: kcnk9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3725 KCNK9 Zornitza Stark Marked gene: KCNK9 as ready
Intellectual disability syndromic and non-syndromic v0.3725 KCNK9 Zornitza Stark Gene: kcnk9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3725 KCNK9 Zornitza Stark Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, MIM# 612292; MONDO:0012856
Mendeliome v0.7454 KCNK9 Zornitza Stark Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, MIM# 612292; MONDO:0012856
Mendeliome v0.7453 KCNK9 Zornitza Stark Publications for gene: KCNK9 were set to
Mendeliome v0.7452 KCNK9 Zornitza Stark Mode of inheritance for gene: KCNK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.7451 KCNK9 Zornitza Stark reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28333430, 27151206, 24980697, 18678320; Phenotypes: Birk-Barel syndrome, MIM# 612292, MONDO:0012856; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.3724 KCNK9 Zornitza Stark Publications for gene: KCNK9 were set to
Intellectual disability syndromic and non-syndromic v0.3723 KCNK9 Zornitza Stark Mode of inheritance for gene: KCNK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.3722 KCNK9 Zornitza Stark edited their review of gene: KCNK9: Changed phenotypes: Birk-Barel syndrome, MIM# 612292, MONDO:0012856
Intellectual disability syndromic and non-syndromic v0.3722 KCNK9 Zornitza Stark reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28333430, 27151206, 24980697, 18678320; Phenotypes: Birk-Barel syndrome, MIM# 612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.7451 KCNK9 Ain Roesley reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 18678320, 27151206; Phenotypes: Birk-Barel syndrome (MIM#612292); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.7451 ATL1 Zornitza Stark edited their review of gene: ATL1: Changed phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381, Spastic paraplegia 3A, MIM 182600, Hereditary spastic paraplegia, AR
Mendeliome v0.7451 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Mendeliome v0.7451 ATL1 Zornitza Stark Gene: atl1 has been classified as Green List (High Evidence).
Mendeliome v0.7451 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381 to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381; Spastic paraplegia 3A, MIM 182600; Hereditary spastic paraplegia, AR
Mendeliome v0.7450 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Mendeliome v0.7449 ATL1 Zornitza Stark Publications for gene: ATL1 were set to
Mendeliome v0.7448 ATL1 Zornitza Stark Mode of inheritance for gene: ATL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7447 ATL1 Zornitza Stark reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194679, 24604904, 22340599, 16401858, 16537571, 17657515, 28396731, 24473461, 26888483; Phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy_CMT - isolated v0.75 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Hereditary Neuropathy_CMT - isolated v0.75 ATL1 Zornitza Stark Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v0.75 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from HSAN/SFN; Neuropathy, hereditary sensory, type ID, 613708 to HSAN/SFN; Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Hereditary Neuropathy_CMT - isolated v0.74 ATL1 Zornitza Stark Publications for gene: ATL1 were set to
Hereditary Neuropathy_CMT - isolated v0.73 ATL1 Zornitza Stark Mode of inheritance for gene: ATL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v0.72 ATL1 Zornitza Stark reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194679, 24604904, 22340599; Phenotypes: Neuropathy, hereditary sensory, type ID , MIM#613708, MONDO:0013381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7447 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Mendeliome v0.7447 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Mendeliome v0.7447 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Mendeliome v0.7446 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Mendeliome v0.7445 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7444 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Mitochondrial disease v0.618 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.618 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Mitochondrial disease v0.617 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Mitochondrial disease v0.616 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7444 COA6 Zornitza Stark Marked gene: COA6 as ready
Mendeliome v0.7444 COA6 Zornitza Stark Gene: coa6 has been classified as Green List (High Evidence).
Mendeliome v0.7444 COA6 Zornitza Stark Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mendeliome v0.7443 COA6 Zornitza Stark Publications for gene: COA6 were set to
Mendeliome v0.7442 COA6 Zornitza Stark Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7441 COA6 Zornitza Stark reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COA6 Zornitza Stark Marked gene: COA6 as ready
Mitochondrial disease v0.615 COA6 Zornitza Stark Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.615 COA6 Zornitza Stark Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.614 COA6 Zornitza Stark Publications for gene: COA6 were set to
Mitochondrial disease v0.613 COA6 Zornitza Stark Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 COA6 Zornitza Stark edited their review of gene: COA6: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.612 COA6 Zornitza Stark reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7441 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Mendeliome v0.7441 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Mendeliome v0.7441 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728
Mendeliome v0.7440 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Mendeliome v0.7439 CARS2 Zornitza Stark Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7438 CARS2 Zornitza Stark reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672, MONDO:0014728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Combined oxidative phosphorylation deficiency 27, MIM# 616672 to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728
Mitochondrial disease v0.611 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Mitochondrial disease v0.611 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.611 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672
Mitochondrial disease v0.610 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Mitochondrial disease v0.609 CARS2 Zornitza Stark Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 CARS2 Zornitza Stark reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.71 PPP2R5C Zornitza Stark Marked gene: PPP2R5C as ready
Macrocephaly_Megalencephaly v0.71 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Zornitza Stark Marked gene: PPP2R5C as ready
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7438 PPP2R5C Zornitza Stark Marked gene: PPP2R5C as ready
Mendeliome v0.7438 PPP2R5C Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1066 TBC1D2B Zornitza Stark Marked gene: TBC1D2B as ready
Genetic Epilepsy v0.1066 TBC1D2B Zornitza Stark Gene: tbc1d2b has been classified as Green List (High Evidence).
Mendeliome v0.7438 PPP2R5C Sue White Classified gene: PPP2R5C as Amber List (moderate evidence)
Mendeliome v0.7438 PPP2R5C Sue White Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7437 PPP2R5C Sue White gene: PPP2R5C was added
gene: PPP2R5C was added to Mendeliome. Sources: Research
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability
Penetrance for gene: PPP2R5C were set to Complete
Review for gene: PPP2R5C was set to AMBER
Added comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly
Sources: Research
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Sue White Classified gene: PPP2R5C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3722 PPP2R5C Sue White Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3721 PPP2R5C Sue White gene: PPP2R5C was added
gene: PPP2R5C was added to Intellectual disability syndromic and non-syndromic. Sources: Research
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability
Penetrance for gene: PPP2R5C were set to Complete
Review for gene: PPP2R5C was set to AMBER
Added comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly
Sources: Research
Macrocephaly_Megalencephaly v0.71 PPP2R5C Sue White Classified gene: PPP2R5C as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.71 PPP2R5C Sue White Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.70 PPP2R5C Sue White gene: PPP2R5C was added
gene: PPP2R5C was added to Macrocephaly_Megalencephaly. Sources: Research
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability
Penetrance for gene: PPP2R5C were set to Complete
Review for gene: PPP2R5C was set to AMBER
Added comment: Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly
Sources: Research
Regression v0.322 AAAS Zornitza Stark Marked gene: AAAS as ready
Regression v0.322 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Regression v0.322 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Regression v0.321 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.320 AAAS Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype of this multi-system syndromic condition.
Sources: Expert list; to: The association of adrenal and neurologic disease is similar to that in X-linked adrenoleukodystrophy, and neurological features are progressive.
Sources: Expert list
Mendeliome v0.7436 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Mendeliome v0.7436 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Mendeliome v0.7436 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951; MONDO:0013499
Mendeliome v0.7435 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Mendeliome v0.7434 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7433 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21240275, 21240277; Phenotypes: Fanconi anaemia, complementation group P, MIM# 613951, MONDO:0013499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Mitochondrial disease v0.608 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Mendeliome v0.7433 NLRP2 Zornitza Stark Publications for gene: NLRP2 were set to 30877238
Mendeliome v0.7432 NLRP2 Sarah Leigh reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: 19300480, 29574422, 33090377; Phenotypes: ; Mode of inheritance: None
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Marked gene: VPS16 as ready
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Gene: vps16 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Classified gene: VPS16 as Green List (high evidence)
Dystonia - isolated/combined v1.2 VPS16 Zornitza Stark Gene: vps16 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v1.1 VPS16 Zornitza Stark gene: VPS16 was added
gene: VPS16 was added to Dystonia - isolated/combined. Sources: Expert Review
Mode of inheritance for gene: VPS16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS16 were set to 33482438; 33497487
Phenotypes for gene: VPS16 were set to Dystonia
Review for gene: VPS16 was set to GREEN
Added comment: Both isolated and complex dystonia reported in association with variants in this gene.
Sources: Expert Review
Dystonia - isolated/combined v1.0 Zornitza Stark promoted panel to version 1.0
Dystonia - complex v0.176 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Dystonia - complex v0.176 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Dystonia - complex v0.176 COQ8A Zornitza Stark Classified gene: COQ8A as Green List (high evidence)
Dystonia - complex v0.176 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Dystonia - complex v0.175 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Dystonia - complex. Sources: Expert list
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8A were set to 32337771
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM# 612016
Review for gene: COQ8A was set to GREEN
Added comment: PMID 32337771: cohort of 59 individuals. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms.
Sources: Expert list
Dystonia - isolated/combined v0.61 PODXL Zornitza Stark Marked gene: PODXL as ready
Dystonia - isolated/combined v0.61 PODXL Zornitza Stark Gene: podxl has been classified as Red List (Low Evidence).
Dystonia - isolated/combined v0.61 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Dystonia - isolated/combined v0.61 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.61 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from GTP-cyclohydrolase deficiency; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910 to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Dystonia - isolated/combined v0.60 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Dystonia - isolated/combined v0.59 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874165, 11113234, 15753436; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.59 TH Zornitza Stark Marked gene: TH as ready
Dystonia - isolated/combined v0.59 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.59 TH Zornitza Stark Phenotypes for gene: TH were changed from Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia; Segawa syndrome; paediatric form of dopa responsive dystonia to Segawa syndrome, recessive, MIM# 605407; MONDO:0011551
Dystonia - isolated/combined v0.58 TH Zornitza Stark reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive, MIM# 605407, MONDO:0011551; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.58 SPR Zornitza Stark Marked gene: SPR as ready
Dystonia - isolated/combined v0.58 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.58 SPR Zornitza Stark Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; MONDO:0012994
Dystonia - isolated/combined v0.57 SPR Zornitza Stark Publications for gene: SPR were set to
Dystonia - isolated/combined v0.56 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11443547, 18502672, 22522443, 16532389, 31777525, 29147684, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716, MONDO:0012994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.56 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Dystonia - isolated/combined v0.56 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.56 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2; Dystonia; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; dystonia 9 to Dystonia 9, MIM# 601042; MONDO:0010983
Dystonia - isolated/combined v0.55 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.54 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21832227, 30198221; Phenotypes: Dystonia 9, MIM# 601042, MONDO:0010983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.319 SGCE Zornitza Stark Marked gene: SGCE as ready
Regression v0.319 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Regression v0.319 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Regression v0.318 SGCE Zornitza Stark Mode of inheritance for gene: SGCE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Regression v0.317 SGCE Zornitza Stark Classified gene: SGCE as Red List (low evidence)
Regression v0.317 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Regression v0.316 SGCE Zornitza Stark reviewed gene: SGCE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.7432 SGCE Zornitza Stark Marked gene: SGCE as ready
Mendeliome v0.7432 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Mendeliome v0.7432 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Mendeliome v0.7431 SGCE Zornitza Stark Publications for gene: SGCE were set to
Mendeliome v0.7430 SGCE Zornitza Stark Mode of inheritance for gene: SGCE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.7429 SGCE Zornitza Stark reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528394, 12821748, 16227522; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Dystonia - isolated/combined v0.54 SGCE Zornitza Stark Marked gene: SGCE as ready
Dystonia - isolated/combined v0.54 SGCE Zornitza Stark Gene: sgce has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.54 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome; Myoclonus-Dystonia to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Dystonia - isolated/combined v0.53 SGCE Zornitza Stark Publications for gene: SGCE were set to
Dystonia - isolated/combined v0.52 SGCE Zornitza Stark reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528394, 12821748, 16227522; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Dystonia - isolated/combined v0.52 PRRT2 Zornitza Stark Marked gene: PRRT2 as ready
Dystonia - isolated/combined v0.52 PRRT2 Zornitza Stark Gene: prrt2 has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.52 PRRT2 Zornitza Stark Phenotypes for gene: PRRT2 were changed from dystonia and occasionally hemiplegic migraine and epilepsy; episodic kinesigenic dyskinesia; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200 to Episodic kinesigenic dyskinesia 1, MIM# 128200; MONDO:0007494
Dystonia - isolated/combined v0.51 PRRT2 Zornitza Stark Publications for gene: PRRT2 were set to
Dystonia - isolated/combined v0.50 PRRT2 Zornitza Stark edited their review of gene: PRRT2: Changed phenotypes: Episodic kinesigenic dyskinesia 1, MIM# 128200, MONDO:0007494
Dystonia - isolated/combined v0.50 PRRT2 Zornitza Stark reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22101681, 22120146, 22744660, 22399141; Phenotypes: Episodic kinesigenic dyskinesia 1, MIM# 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.316 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Regression v0.316 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Regression v0.316 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789
Regression v0.315 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.314 PRKRA Zornitza Stark Classified gene: PRKRA as Red List (low evidence)
Regression v0.314 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Regression v0.313 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7429 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Mendeliome v0.7429 PRKRA Zornitza Stark Gene: prkra has been classified as Green List (High Evidence).
Mendeliome v0.7429 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789
Mendeliome v0.7428 PRKRA Zornitza Stark Publications for gene: PRKRA were set to
Mendeliome v0.7427 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7426 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 29279192; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.50 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Dystonia - isolated/combined v0.50 PRKRA Zornitza Stark Gene: prkra has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.50 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia 16, 612067; Dystonia to Dystonia 16, MIM# 612067; MONDO:0012789
Dystonia - isolated/combined v0.49 PRKRA Zornitza Stark Publications for gene: PRKRA were set to
Dystonia - isolated/combined v0.48 PRKRA Zornitza Stark Tag founder tag was added to gene: PRKRA.
Dystonia - isolated/combined v0.48 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 29279192; Phenotypes: Dystonia 16, MIM# 612067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - isolated/combined v0.48 PARK7 Zornitza Stark Marked gene: PARK7 as ready
Dystonia - isolated/combined v0.48 PARK7 Zornitza Stark Gene: park7 has been classified as Green List (High Evidence).
Mendeliome v0.7426 KMT2B Zornitza Stark Marked gene: KMT2B as ready
Mendeliome v0.7426 KMT2B Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence).
Mendeliome v0.7426 KMT2B Zornitza Stark Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset 617284; MONDO:0015004
Mendeliome v0.7425 KMT2B Zornitza Stark Publications for gene: KMT2B were set to
Mendeliome v0.7424 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7423 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27839873, 27992417; Phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark Marked gene: KMT2B as ready
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence).
Dystonia - isolated/combined v0.48 KMT2B Zornitza Stark Phenotypes for gene: KMT2B were changed from early-onset dystonia; Dystonia 28, childhood-onset 617284 to early-onset dystonia; Dystonia 28, childhood-onset 617284; MONDO:0015004
Dystonia - isolated/combined v0.47 KMT2B Zornitza Stark Publications for gene: KMT2B were set to
Dystonia - isolated/combined v0.46 KMT2B Zornitza Stark Mode of inheritance for gene: KMT2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.313 CIZ1 Zornitza Stark Marked gene: CIZ1 as ready
Regression v0.313 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Red List (Low Evidence).
Regression v0.313 CIZ1 Zornitza Stark Phenotypes for gene: CIZ1 were changed from to Dystonia 23 MIM#614860
Regression v0.312 CIZ1 Zornitza Stark Mode of inheritance for gene: CIZ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.311 CIZ1 Zornitza Stark Classified gene: CIZ1 as Red List (low evidence)
Regression v0.311 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Red List (Low Evidence).
Regression v0.310 CIZ1 Zornitza Stark reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7423 CIZ1 Zornitza Stark Marked gene: CIZ1 as ready
Mendeliome v0.7423 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7423 CIZ1 Zornitza Stark Phenotypes for gene: CIZ1 were changed from to Dystonia 23 MIM#614860
Mendeliome v0.7422 CIZ1 Zornitza Stark Publications for gene: CIZ1 were set to
Mendeliome v0.7421 CIZ1 Zornitza Stark Mode of inheritance for gene: CIZ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7420 CIZ1 Zornitza Stark Classified gene: CIZ1 as Amber List (moderate evidence)
Mendeliome v0.7420 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7419 CIZ1 Zornitza Stark reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27163549, 29154038, 22447717; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia - isolated/combined v0.45 CIZ1 Zornitza Stark Marked gene: CIZ1 as ready
Dystonia - isolated/combined v0.45 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7419 NPAS2 Zornitza Stark Marked gene: NPAS2 as ready
Mendeliome v0.7419 NPAS2 Zornitza Stark Gene: npas2 has been classified as Red List (Low Evidence).
Mendeliome v0.7419 NPAS2 Zornitza Stark Phenotypes for gene: NPAS2 were changed from to Non-obstructive azoospermia
Mendeliome v0.7418 NPAS2 Zornitza Stark Publications for gene: NPAS2 were set to