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Pigmentary skin disorders v1.54 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; Melanoma; Dyskeratosis congenita; DKCB4, INCLUDED to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.27 | TERT |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED for gene: TERT Publications for gene TERT were changed from to 17785587; 18460650 |
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Pigmentary skin disorders v0.25 | TERT | Tom Cullup reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 17785587, 18460650; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED, DKCB4, INCLUDED; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TERT | Rebecca Foulger Source London North GLH was added to TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TERT | Rebecca Foulger reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.3 | TERT |
Rebecca Foulger gene: TERT was added gene: TERT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita |