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  3. IGHMBP2
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Hereditary Neuropathy_CMT - isolated

Gene: IGHMBP2

Green List (high evidence)
IGHMBP2 (immunoglobulin mu binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132740
EnsemblGeneIds (GRCh37): ENSG00000132740
OMIM: 600502, Gene2Phenotype
IGHMBP2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155

Created: 17 Mar 2022, 8:15 p.m.
Last Modified: 17 Mar 2022, 8:15 p.m.
Panel version: Imported from Mendeliome panel version 0.11514

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families reported with CMT2. Complete loss of protein function appears to result in the move severe condition (spinal muscular atrophy with respiratory distress type 1 (SMARD1) [MIM#604320])
Created: 8 Jul 2020, 3:13 a.m. | Last Modified: 8 Jul 2020, 3:18 a.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2S (MIM#616155)

Publications

Created: 8 Jul 2020, 3:13 a.m.
Last Modified: 8 Jul 2020, 3:18 a.m.
Panel version: 0.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • HMSN, dHMN/dSMA
  • Charcot-Marie-Tooth disease, axonal, type 2S 616155
  • Neuronopathy, distal hereditary motor, type VI, 604320
OMIM
600502
Clinvar variants
Variants in IGHMBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ighmbp2 has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGHMBP2 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IGHMBP2 was added gene: IGHMBP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320