| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial pulmonary fibrosis v1.28 | ACD | Arina Puzriakova Tag watchlist_moi tag was added to gene: ACD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.28 | ACD | Arina Puzriakova Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.27 | ACD | Arina Puzriakova Classified gene: ACD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.27 | ACD | Arina Puzriakova Added comment: Comment on list classification: This gene was approved by the NHS Genomic Medicine Service, rated green on the 'Pulmonary fibrosis familial' GMS panel with 'monoallelic' inheritance. Therefore the MOI and rating on this panel was also updated accordingly and the 'watchlist' tag was removed. Added 'watchlist_MOI' tag to ensure monitoring of biallelic variants as currently no evidence linking these to PF is available but may emerge in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.27 | ACD | Arina Puzriakova Gene: acd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.26 | ACD | Arina Puzriakova Tag watchlist was removed from gene: ACD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.26 | ACD | Ivone Leong Tag watchlist tag was added to gene: ACD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.26 | ACD | Ivone Leong Publications for gene: ACD were set to 31515401; 30995915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.25 | ACD | Ivone Leong Classified gene: ACD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.25 | ACD | Ivone Leong Added comment: Comment on list classification: New gene added by Øystein Holla (Telemark Hospital Trust). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team this gene has been given an Amber rating until more evidence is available due to unaffected heterozygotes reported in PMID: 33446513. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.25 | ACD | Ivone Leong Gene: acd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.24 | ACD | Ivone Leong Phenotypes for gene: ACD were changed from dyskeratosis congenita, telomere disorder, pulmonary fibrosis to ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.23 | ACD | Ivone Leong Publications for gene: ACD were set to 31515401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.18 | ACD |
Øystein Holla gene: ACD was added gene: ACD was added to Familial pulmonary fibrosis. Sources: Literature Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ACD were set to 31515401 Phenotypes for gene: ACD were set to dyskeratosis congenita, telomere disorder, pulmonary fibrosis Penetrance for gene: ACD were set to unknown Review for gene: ACD was set to GREEN gene: ACD was marked as current diagnostic Added comment: Pathogenic variants in ACD cause dyskeratosis congenita (DC) and short telomeres. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. (GeneReviews Dyskeratosis Congenita, Last Revision: November 21, 2019.) Unaffected heterozygotes are reported, PMID: 33446513 Sources: Literature |
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