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| Structural eye disease v0.76 | MKS1 | Nicola Ragge reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: ; Publications: 23454480; Phenotypes: Bardet-Biedl syndrome 13, Meckel syndrome 1, 615990, 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | MKS1 | Ivone Leong edited their review of gene: MKS1: Changed phenotypes: Bardet-Biedl syndrome 13, 615990, Meckel syndrome 1, 249000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | MKS1 | Ivone Leong reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: ; Publications: 23454480; Phenotypes: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | MKS1 |
Ivone Leong Source NHS GMS was added to MKS1. Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000 for gene: MKS1 Publications for gene MKS1 were changed from to 23454480 |
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| Structural eye disease v0.2 | MKS1 |
Ellen McDonagh gene: MKS1 was added gene: MKS1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MKS1 was set to Phenotypes for gene: MKS1 were set to Eye Disorders |
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