| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intestinal failure or congenital diarrhoea v1.46 | FLNA |
Ivone Leong Tag Q2_21_rating was removed from gene: FLNA. Tag Q2_21_NHS_review was removed from gene: FLNA. |
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| Intestinal failure or congenital diarrhoea v1.46 | FLNA | Ivone Leong commented on gene: FLNA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.45 | FLNA |
Ivone Leong Source Expert Review Green was added to FLNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intestinal failure or congenital diarrhoea v1.42 | FLNA | Arina Puzriakova Added comment: Comment on mode of inheritance: Female carriers do not exhibit gastrointestinal defects indicating XLR inheritance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.42 | FLNA | Arina Puzriakova Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.41 | FLNA | Arina Puzriakova Phenotypes for gene: FLNA were changed from Congenital short bowel syndrome, OMIM:300048 to Congenital short bowel syndrome, OMIM:300048; Intestinal pseudoobstruction, neuronal, OMIM:300048; ?FG syndrome 2, OMIM:300321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.12 | FLNA |
Ivone Leong Tag Q2_21_rating tag was added to gene: FLNA. Tag Q2_21_NHS_review tag was added to gene: FLNA. |
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| Intestinal failure or congenital diarrhoea v1.12 | FLNA | Ivone Leong Classified gene: FLNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.12 | FLNA | 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 v1.12 | FLNA | Ivone Leong Gene: flna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.11 | FLNA | Ivone Leong Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.10 | FLNA | Ivone Leong Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v1.5 | FLNA |
Miranda Durkie gene: FLNA was added gene: FLNA was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596 Phenotypes for gene: FLNA were set to Congenital short bowel Penetrance for gene: FLNA were set to unknown Review for gene: FLNA was set to GREEN Added comment: Congenital short bowel not included in other panels - overlap with intestinal failure presentation PMID: 23037936 - affected males in 2 families PMID: 33464596 - 1 affected male Sources: Literature |
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