Growth failure in early childhood
Gene: BLM
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that BLM should be included on the panel. The initial clinical presentation of Bloom syndrome can be non-specific and it would be valuable to make an early diagnosis as growth hormone treatment is contra-indicated in this condition. Therefore kept BLM rating as Green.Created: 30 May 2019, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210900 Bloom syndrome; Bloom syndrome, 210900
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Bloom.Created: 14 May 2019, 1:25 p.m.
Phenotypes
Bloom
Phenotypes for gene: BLM were changed from 210900 Bloom syndrome; Bloom syndrome, 210900; Bloom to Bloom syndrome, OMIM:210900
Added phenotypes Bloom syndrome, 210900; 210900 Bloom syndrome for gene: BLM
Source Expert list was added to BLM. Added phenotypes Bloom for gene: BLM
gene: BLM was added gene: BLM was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom syndrome, 210900