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| Structural eye disease v0.91 | MITF | Nicola Ragge edited their review of gene: MITF: Added comment: Dominant variants are associated with Waardenburg syndrome, however George et al reported two cases with compound het changes and a new syndrome including microphthalmia (COMMAD syndrome): one case with compound heterozygous changes for missense/in-frame deletion segregating in parents - inframe deletion was previously shown to lack DNA binding or regulate target-gene promotors in mice (Grill paper), another unrelated case with missense and splice site variant segregating in parents plus convincing evidence in mouse and cell models that these variants are pathogenic. Steingrimsson published first paper on MITF variants causing microphthalmia in mice ; Changed publications: 27889061, 23787126, 7874168; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | MITF | Ivone Leong Publications for gene MITF were changed from 27889061 to 7874168; 27889061; 23787126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | MITF | Nicola Ragge reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061; Phenotypes: COMMAD syndrome, 617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.60 | MITF | Mariya Moosajee reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMMAD Syndrome, Waardenburg syndrome, type 2a, WS2A; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | MITF |
Ivone Leong Source London North GLH was added to MITF. Added phenotypes Waardenburg syndrome, type 2a, WS2A, 193510 for gene: MITF |
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| Structural eye disease v0.49 | MITF | Ivone Leong edited their review of gene: MITF: Changed phenotypes: COMMAD syndrome, 617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | MITF | Ivone Leong reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | MITF |
Ivone Leong gene: MITF was added gene: MITF was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MITF were set to 27889061 Phenotypes for gene: MITF were set to COMMAD syndrome, 617306 |
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