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| Structural eye disease v0.91 | POMT2 | Nicola Ragge edited their review of gene: POMT2: Added comment: Van Reeuwijk, three families with Walker-Warburg syndrome, one case with Peter's anomaly, congenital cataract and microphthalmia and homozygous nonsense variant. The other cases had congenital cataract (homozygous splice site variant) and cataract/buphthalmos (homozygous frameshift). Nabhan family of four diseased siblings with Walker/Warburg syndrome, oldest sibling had microphthalmia, all siblings have homozygous missense. ; Changed rating: GREEN; Changed publications: 15894594, 28815891; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | POMT2 |
Ivone Leong Source Expert Review Green was added to POMT2. Publications for gene POMT2 were changed from 28815891; 15894594 to 15894594; 28815891 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v0.76 | POMT2 | Nicola Ragge reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15894594, 28815891; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.60 | POMT2 | Mariya Moosajee reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 2, MDDGA2; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | POMT2 | Ivone Leong Source London North GLH was added to POMT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.58 | POMT2 | Ivone Leong Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.58 | POMT2 | Ivone Leong Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | POMT2 | Ivone Leong edited their review of gene: POMT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | POMT2 | Ivone Leong reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15894594, 28815891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | POMT2 |
Ivone Leong gene: POMT2 was added gene: POMT2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 28815891; 15894594 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 |
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