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| Intestinal failure or congenital diarrhoea v1.46 | CLMP |
Ivone Leong Tag Q2_21_rating was removed from gene: CLMP. Tag Q2_21_NHS_review was removed from gene: CLMP. |
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| Intestinal failure or congenital diarrhoea v1.46 | CLMP | Ivone Leong commented on gene: CLMP: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.45 | CLMP |
Ivone Leong Source Expert Review Green was added to CLMP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intestinal failure or congenital diarrhoea v1.9 | CLMP |
Ivone Leong Tag Q2_21_rating tag was added to gene: CLMP. Tag Q2_21_NHS_review tag was added to gene: CLMP. |
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| Intestinal failure or congenital diarrhoea v1.9 | CLMP | Ivone Leong Classified gene: CLMP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.9 | CLMP | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.9 | CLMP | Ivone Leong Gene: clmp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.8 | CLMP | Ivone Leong Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.7 | CLMP | Ivone Leong Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.6 | CLMP | Ivone Leong Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.5 | CLMP |
Miranda Durkie 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 Added comment: 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 |
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