BLM

Bloom syndrome RecQ like helicase
OMIM: 604610
PanelMode of inheritanceDetails
9 panels
R-numbers: R229, R258
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210900 Bloom syndrome, Bloom syndrome, 210900
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BLOOM SYNDROME 210900
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BLOOM SYNDROME
R-numbers: R147
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
210900 Bloom syndrome, Bloom syndrome, 210900, Bloom
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Bloom syndrome, leukaemia, lymphoma, skin squamous cell, other tumour types, Lymphoma, ALL, MDS, AML, Leukaemia, Carcinomas
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom syndrome, 210900, BLOOM SYNDROME
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom syndrome, 210900, Immunodeficiency, Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability, Combined immunodeficiencies with associated or syndromic features
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPD, microcephalic primordial dwarfism, Bloom syndrome, 210900, microcephaly
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom Syndrome, 210900