Growth failure in early childhood
Gene: FANCD2EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group D2, OMIM:227646
- OMIM
- 613984
- Clinvar variants
- Variants in FANCD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Ductal plate malformation
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FANCD2 were changed from Fanconi anemia; Fanconi anemia, complementation group D2, 227646; 227646 Fanconi anemia, complementation group D2; Fanconi Anemia to Fanconi anemia, complementation group D2, OMIM:227646
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FANCD2 were set to
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Fanconi anemia, complementation group D2, 227646; 227646 Fanconi anemia, complementation group D2; Fanconi Anemia for gene: FANCD2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FANCD2 was added gene: FANCD2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646; Fanconi Anemia; Fanconi anemia