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| Structural eye disease v3.8 | MIR204 | Sarah Leigh Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.45 | DDX58 | Arina Puzriakova Mode of pathogenicity for gene: DDX58 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.44 | DDX58 | Arina Puzriakova edited their review of gene: DDX58: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | SLC45A2 | Nicola Ragge reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, [Skin/hair/eye pigmentation 5, black/nonblack hair], [Skin/hair/eye pigmentation 5, dark/fair skin], [Skin/hair/eye pigmentation 5, dark/light eyes] , 606574, 227240, 227240, 227240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | SAG | Nicola Ragge reviewed gene: SAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oguchi disease-1, Retinitis pigmentosa 47, 258100, 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | GDF6 | Nicola Ragge reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), Microphthalmia with coloboma6, digenic (with GDF3), Microphthalmia, isolated 4 , 118100 , 613703 , 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | ABCB6 | Nicola Ragge reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22226084; Phenotypes: Microphthalmia, isolated, with coloboma 7, 614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | SAG | Ivone Leong edited their review of gene: SAG: Changed phenotypes: Oguchi disease-1, Retinitis pigmentosa 47, 258100, 613758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SLC45A2 | Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 33, 610359; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SAG | Ivone Leong reviewed gene: SAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Coloboma, ocular, autosomal recessive, 216820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | GDF6 | Ivone Leong reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 17236135, 20494911, 25457163, 24033328, 21070663; Phenotypes: KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100, Microphthalmia with coloboma 6, digenic (with GDF3), 613703, Microphthalmia, isolated 4, 613094 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ABCB6 | Ivone Leong reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22226084; Phenotypes: Microphthalmia, isolated, with coloboma 7 614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SAG |
Ivone Leong Source NHS GMS was added to SAG. Mode of inheritance for gene SAG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 47; Oguchi disease-1; 258100; 613758 for gene: SAG |
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| Structural eye disease v0.15 | GDF6 |
Ivone Leong Source NHS GMS was added to GDF6. Source Expert Review Green was added to GDF6. Mode of inheritance for gene GDF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments Added phenotypes Microphthalmia, isolated 4, 613094; KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100; Microphthalmia with coloboma 6, digenic (with GDF3), 613703 for gene: GDF6 Publications for gene GDF6 were changed from to 17236135, 20494911, 25457163, 24033328, 21070663 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Structural eye disease v0.15 | ABCB6 |
Ivone Leong Source NHS GMS was added to ABCB6. Mode of inheritance for gene ABCB6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene ABCB6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments Added phenotypes Microphthalmia, isolated, with coloboma 7 614497 for gene: ABCB6 Publications for gene ABCB6 were changed from to 22226084 |
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| Structural eye disease v0.15 | CHD7 |
Ivone Leong Source NHS GMS was added to CHD7. Mode of pathogenicity for gene CHD7 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments Added phenotypes CHARGE syndrome, 214800 for gene: CHD7 |
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| Structural eye disease v0.2 | SAG |
Ellen McDonagh gene: SAG was added gene: SAG was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SAG was set to Phenotypes for gene: SAG were set to Eye Disorders |
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| Structural eye disease v0.2 | CHD7 |
Ellen McDonagh gene: CHD7 was added gene: CHD7 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD7 were set to 16400610 Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800 Mode of pathogenicity for gene: CHD7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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