Gastrointestinal neuromuscular disorders

Gene: CLMP

Green List (high evidence)

CLMP (CXADR like membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000166250
EnsemblGeneIds (GRCh37): ENSG00000166250
OMIM: 611693, Gene2Phenotype
CLMP is in 2 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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.
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