Gastrointestinal neuromuscular disorders
Gene: CLMP
CLMP (CXADR like membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000166250
EnsemblGeneIds (GRCh37): ENSG00000166250
OMIM: 611693, Gene2Phenotype
CLMP is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000166250
EnsemblGeneIds (GRCh37): ENSG00000166250
OMIM: 611693, Gene2Phenotype
CLMP is in 4 panels
1 review
Helen Brittain (Genomics England Curator)
Sufficient cases with compound heterozygous variants (inc. frameshift / splice site / nonsense). Phenotype is not a classic fit for any of our panels, however as it presents with early onset malabsorption owing to bowel related problems, this panel is considered the most appropriate phenotypic overlap.Created: 5 Dec 2017, 3:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital short bowel syndrome 615237
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital short bowel syndrome 615237
- OMIM
- 611693
- Clinvar variants
- Variants in CLMP
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
5 Dec 2017, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Dec 2017, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Dec 2017, Gel status: 1
Added New Source
Helen Brittain (Genomics England Curator)CLMP was added to Neonatal and familial gastrointestinal neuromuscular disorders panel. Sources: Literature
5 Dec 2017, Gel status: 1
Created
Helen Brittain (Genomics England Curator)CLMP was created by Helen Brittain