This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: FANCA
FANCA (Fanconi anemia complementation group A)
EnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
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Details
- Sources
-
- Expert list
- Phenotypes
-
- Fanconi anemia
- OMIM
- 607139
- Clinvar variants
- Variants in FANCA
- Penetrance
- Complete
- Panels with this gene
-
- Limb disorders
- Haematological malignancies cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Structural eye disease
- Monogenic short stature
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- IUGR and IGF abnormalities
- Childhood solid tumours
- Fetal anomalies
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
19 Nov 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCA was created by ellenmcdonagh
19 Nov 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCA was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Expert list