| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure v0.29 | FANCA | Zornitza Stark Phenotypes for gene: FANCA were changed from Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215 to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.25 | FANCA | Zornitza Stark Marked gene: FANCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.25 | FANCA | Zornitza Stark Gene: fanca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.25 | FANCA | Zornitza Stark Phenotypes for gene: FANCA were changed from hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; 227650 Fanconi anemia complementation group A; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group A, 227650; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.24 | FANCA | Zornitza Stark Publications for gene: FANCA were set to 16493006; 8896563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.23 | FANCA |
Zornitza Stark changed review comment from: Well established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. ; to: Well established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Growth failure is a key feature. |
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| Growth failure v0.0 | FANCA |
Zornitza Stark gene: FANCA was added gene: FANCA was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 16493006; 8896563 Phenotypes for gene: FANCA were set to hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; 227650 Fanconi anemia complementation group A; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group A, 227650; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation |
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