BLM

Bloom syndrome RecQ like helicase
OMIM: 604610, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green BLM in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Bloom syndrome, OMIM:210900 Class: BM failure syndrome (typ AR) Bloom syndrome leukaemia lymphoma skin squamous cell other tumour types Lymphoma ALL MDS AML Leukaemia Carcinomas
Green BLM in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Bloom syndrome, OMIM:210900
Green BLM in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Immunodeficiency Combined immunodeficiencies with associated or syndromic features Bloom syndrome, 210900 Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability
Red BLM in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bloom syndrome, OMIM:210900
Green BLM in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Literature Phenotypes Bloom syndrome, OMIM:210900
Green BLM in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert List Expert Review Green Expert list Phenotypes Bloom syndrome, OMIM:210900
Green BLM in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Bloom syndrome, OMIM:210900
Green BLM in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 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 BLM in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Bloom syndrome, OMIM:210900 Insulin resistance, HP:0000855
Green BLM in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bloom syndrome, OMIM:210900
Green BLM in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.40 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Bloom syndrome, OMIM:210900
No list BLM in Monogenic diabetes Level 2: Endocrinology Version 3.14 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Bloom syndrome, OMIM:210900 Tags curated_removed
Green BLM in Severe microcephaly Level 2: Neurology Version 8.34 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Other Expert list Phenotypes Bloom syndrome, OMIM:210900 Microcephalic primordial dwarfism
Green BLM in Confirmed Fanconi anaemia or Bloom syndrome Level 2: Haematology Version 2.13 Latest signed off version: v2.5 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Bloom syndrome, OMIM:210900
Green BLM in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.158 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Bloom syndrome, OMIM:210900
No list BLM in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green BLM in DDG2P Version 6.427 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLOOM SYNDROME 210900
Green BLM in Intellectual disability Level 2: Developmental disorders Version 9.325 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bloom syndrome, OMIM:210900
Amber BLM in Sarcoma susceptibility Level 2: Cancer susceptibility Version 1.82 Latest signed off version: v1.2 (18 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Expert list Phenotypes Bloom syndrome, OMIM:210900 Osteosarcoma (disease), MONDO:0009807
Green BLM in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bloom syndrome, OMIM:210900

BLM

20 panels

Green BLM in Haematological malignancies for rare disease

Sources

Phenotypes

Green BLM in IUGR and IGF abnormalities

Sources

Phenotypes

Green BLM in COVID-19 research

Sources

Phenotypes

Red BLM in Primary ovarian insufficiency

Sources

Phenotypes

Green BLM in Insulin resistance (including lipodystrophy)

Sources

Phenotypes

Green BLM in Childhood solid tumours

Sources

Phenotypes

Green BLM in Pigmentary skin disorders

Sources

Phenotypes

Green BLM in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Green BLM in Lipodystrophy - childhood onset

Sources

Phenotypes

Green BLM in Childhood solid tumours cancer susceptibility

Sources

Phenotypes

Green BLM in Haematological malignancies cancer susceptibility

Sources

Phenotypes

No list BLM in Monogenic diabetes

Sources

Phenotypes

Tags

Green BLM in Severe microcephaly

Sources

Phenotypes

Green BLM in Confirmed Fanconi anaemia or Bloom syndrome

Sources

Phenotypes

Green BLM in Fetal anomalies

Sources

Phenotypes

No list BLM in Osteogenesis imperfecta

Sources

Phenotypes

Tags

Green BLM in DDG2P

Sources

Phenotypes

Green BLM in Intellectual disability

Sources

Phenotypes

Amber BLM in Sarcoma susceptibility

Sources

Phenotypes

Green BLM in Monogenic short stature

Sources

Phenotypes