Gastrointestinal neuromuscular disease

Gene: CLMP

Green List (high evidence)

CLMP (CXADR like membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000166250
EnsemblGeneIds (GRCh37): ENSG00000166250
OMIM: 611693, Gene2Phenotype
CLMP is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, phenotypic overlap.
Sources: Expert list
Created: 31 Jul 2021, 1:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital short bowel syndrome , MIM#615237

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital short bowel syndrome , MIM#615237
OMIM
611693
Clinvar variants
Variants in CLMP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLMP was added gene: CLMP was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLMP were set to 22155368 Phenotypes for gene: CLMP were set to Congenital short bowel syndrome , MIM#615237 Review for gene: CLMP was set to GREEN