1. Panels
  2. Intestinal failure or congenital diarrhoea
  3. CLMP
STRs in panel
Prev Next
Regions in panel
Prev Next

Intestinal failure or congenital diarrhoea

Gene: CLMP

Green List (high evidence)
CLMP (CXADR like membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000166250
EnsemblGeneIds (GRCh37): ENSG00000166250
OMIM: 611693, Gene2Phenotype
CLMP is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:36 p.m. | Last Modified: 3 Mar 2022, 4:36 p.m.
Panel Version: 1.46
Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 23 Mar 2021, 8:48 a.m. | Last Modified: 23 Mar 2021, 8:48 a.m.
Panel Version: 1.9
Created: 23 Mar 2021, 8:48 a.m.
Last Modified: 23 Mar 2021, 8:48 a.m.
Panel version: 1.46

Miranda Durkie (Genetics)

Green List (high evidence)

Genes for CSB not available on any other GMS panel/overlap with intestinal failure presentation
PMID: 33384711 - 2 brothers with compound het LOF variants
PMID: 31061750 - 1 proband with homozygous LOF CLMP variants
PMID: 27720179 1 proband with compound het LOF variants
PMID: 27352967: 3 patients from 2 families
PMID: 22155368 - initial paper
Sources: Literature
Created: 16 Mar 2021, 12:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital short bowel

Publications

Created: 16 Mar 2021, 12:29 p.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital short bowel syndrome, OMIM:615237
OMIM
611693
Clinvar variants
Variants in CLMP
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: CLMP. Tag Q2_21_NHS_review was removed from gene: CLMP.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to CLMP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Mar 2021, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CLMP. Tag Q2_21_NHS_review tag was added to gene: CLMP.

23 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: clmp has been classified as Amber List (Moderate Evidence).

23 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237

23 Mar 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750

23 Mar 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750

16 Mar 2021, Gel status: 0

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

Miranda Durkie (Genetics)

gene: CLMP was added gene: CLMP was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750 Phenotypes for gene: CLMP were set to Congenital short bowel Penetrance for gene: CLMP were set to unknown Review for gene: CLMP was set to GREEN