1. Genes and Genomic Entities
  2. BLM

BLM

Bloom syndrome RecQ like helicase
OMIM: 604610, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green BLM in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17

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 1.65

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 1.142

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 1.68

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 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
Phenotypes
  • Bloom syndrome, OMIM:210900
Green BLM in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Bloom syndrome, OMIM:210900
No list BLM in Pigmentary skin disorders


Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Bloom syndrome, OMIM:210900
Green BLM in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

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
Amber BLM in Lipodystrophy - childhood onset


Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • Bloom syndrome, OMIM:210900
  • Insulin resistance, HP:0000855
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
Green BLM in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bloom syndrome, OMIM:210900
Green BLM in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
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


Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Bloom syndrome, OMIM:210900
Tags
  • curated_removed
Green BLM in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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


Version 2.4
Latest signed off version: v2.0 (22 Mar 2023)

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


Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Bloom syndrome, OMIM:210900
No list BLM in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

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 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 Growth failure in early childhood


    Version 3.94
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Bloom syndrome, OMIM:210900
    Green BLM in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 1.81
    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 Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bloom syndrome, 210900