Arthrogryposis
Gene: IGHMBP2EnsemblGeneIds (GRCh38): ENSG00000132740
EnsemblGeneIds (GRCh37): ENSG00000132740
OMIM: 600502, Gene2Phenotype
IGHMBP2 is in 7 panels
1 review
Alice Gardham (Genomics England)
Mutations known to cause SMA with respiratory distress but this is associated with acquired rather than congenital contracturesCreated: 5 Jan 2017, 9:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuronopathy, distal hereditary motor, type VI 604320
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Neuronopathy, distal hereditary motor, type VI 604320
- OMIM
- 600502
- Clinvar variants
- Variants in IGHMBP2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Alice Gardham (Genomics England)Publications for IGHMBP2 were set to 11528396
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI 604320
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for IGHMBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)IGHMBP2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IGHMBP2 was added to Arthrogryposispanel. Sources: Expert list