BLM

Bloom syndrome RecQ like helicase
OMIM: 604610, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green BLM in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • 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 1.38

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Bloom syndrome, 210900

Green BLM in COVID-19 research


Level 2: Viral research
Version 1.80

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 1.49

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bloom syndrome 210900

Green BLM in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.13

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

Green BLM in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.23
Latest signed off version: v2.5 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Bloom Syndrome
  • 210900

Green BLM in Primary immunodeficiency


Version 2.477
Latest signed off version: v2.1 (24 Feb 2020)

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, 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 Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bloom Syndrome

Green BLM in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.21
Latest signed off version: v2.2 (18 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Bloom syndrome
  • leukaemia
  • lymphoma
  • skin squamous cell
  • other tumour types
  • Lymphoma
  • ALL
  • MDS
  • AML
  • Leukaemia
  • Carcinomas

No list BLM in Monogenic diabetes


Version 2.43
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Bloom syndrome
Tags
  • curated_removed

Green BLM in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.264
Latest signed off version: v2.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Other
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
  • Bloom syndrome, 210900
  • microcephaly

Green BLM in Confirmed Fanconi anaemia or Bloom syndrome


Version 1.13
Latest signed off version: v1.7 (15 Oct 2020)

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
  • 210900 Bloom syndrome
  • Bloom syndrome, 210900

Green BLM in Fetal anomalies


Version 1.728
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BLOOM SYNDROME

No list BLM in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.37
Latest signed off version: v2.2 (13 Feb 2020)

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 2.49
Latest signed off version: v2.2 (13 Feb 2020)

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 1.85
    Latest signed off version: v1.4 (3 Mar 2020)

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

    Green BLM in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Bloom syndrome, 210900
    • BLOOM SYNDROME

    Amber BLM in Sarcoma susceptibility


    Version 1.69
    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 1.84

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