Genomics England

BLM

Bloom syndrome RecQ like helicase

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Childhood solid tumours Signed-off version 5.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BLOOM SYNDROME 210900
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900
Green in Haematological malignancies cancer susceptibility Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900
Green in Monogenic short stature R-numbers: R453 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900, Immunodeficiency, Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability, Combined immunodeficiencies with associated or syndromic features
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900, Insulin resistance, HP:0000855
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bloom syndrome, OMIM:210900, Microcephalic primordial dwarfism