Gastrointestinal neuromuscular disease
Gene: CLMPEnsemblGeneIds (GRCh38): ENSG00000166250
EnsemblGeneIds (GRCh37): ENSG00000166250
OMIM: 611693, Gene2Phenotype
CLMP is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, phenotypic overlap.
Sources: Expert listCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clmp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clmp has been classified as Green List (High Evidence).
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