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Structural eye disease v2.3 | GJA1 | Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v2.3 | GJA1 | Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v2.2 | GJA1 | Achchuthan Shanmugasundram Mode of inheritance for gene GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.80 | GJA1 | Arina Puzriakova Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941; 16816024; 29902798 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.79 | GJA1 | Arina Puzriakova Publications for gene: GJA1 were set to 15637728; 25976645; 21273537; 30628995; 24508941 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.78 | GJA1 | Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.78 | GJA1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update. Ocular abnormalities including microphthalmia and microcornea are reported in GJA1-related oculodentodigital dysplasia, which can be dominantly (MIM:164200) or recessively (MIM:257850) inherited. |
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Structural eye disease v1.78 | GJA1 | Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.77 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | GJA1 | Nicola Ragge reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 21273537, 25976645, 15637728, 24508941, 30628995; Phenotypes: Oculodentodigital dysplasia, open angle glaucoma (OAG) and microcornea; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.71 | GJA1 | Ivone Leong edited their review of gene: GJA1: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 21273537, 25976645, 15637728, 24508941, 30628995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.68 | GJA1 | Ivone Leong Classified gene: GJA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.68 | GJA1 | Ivone Leong Gene: gja1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | GJA1 | Ivone Leong reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 21273537, 25976645, 15637728, 24508941, 30628995; Phenotypes: Oculodentodigital dysplasia, open angle glaucoma (OAG) and microcornea; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | GJA1 |
Ivone Leong Source NHS GMS was added to GJA1. Mode of pathogenicity for gene GJA1 was changed from to Other - please provide details in the comments Added phenotypes open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia for gene: GJA1 Publications for gene GJA1 were changed from 21273537; 25976645 to 15637728; 25976645; 21273537; 30628995; 24508941 |
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Structural eye disease v0.2 | GJA1 |
Ellen McDonagh gene: GJA1 was added gene: GJA1 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJA1 were set to 21273537; 25976645 Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea |