Activity
24 Apr 2024
Severe microcephaly v4.71
BLM
Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome, OMIM:210900 to Bloom syndrome, OMIM:210900; Microcephalic primordial dwarfism
17 May 2023
Severe microcephaly v4.12
BLM
Arina Puzriakova Phenotypes for gene: BLM were changed from MPD; microcephalic primordial dwarfism; Bloom syndrome, 210900; microcephaly to Bloom syndrome, OMIM:210900
29 Jul 2019
Severe microcephaly v1.62
BLM
Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Jul 2019
Severe microcephaly v1.61
BLM
Louise Daugherty Source NHS GMS was added to BLM.
12 Jan 2017
Severe microcephaly
BLM
Alice Gardham marked BLM as ready
12 Jan 2017
Severe microcephaly
BLM
Alice Gardham reviewed BLM