Microcephaly
Gene: FANCD2
FANCD2 (Fanconi anemia complementation group D2)
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 15 panels
1 review
Dean Phelan (Victorian Clinical Genetics Services)
Well established gene-disease association, microcephaly is a key feature.
Sources: Expert ReviewCreated: 2 Sep 2020, 6:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia 227646
Publications
- PMID:20301575
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia 227646
- OMIM
- 613984
- Clinvar variants
- Variants in FANCD2
- Penetrance
- None
- Publications
-
- PMID:20301575
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
- Growth failure
History Filter Activity
2 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: fancd2 has been classified as Green List (High Evidence).
2 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: fancd2 has been classified as Green List (High Evidence).
2 Sep 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dean Phelan (Victorian Clinical Genetics Services)gene: FANCD2 was added gene: FANCD2 was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to PMID:20301575 Phenotypes for gene: FANCD2 were set to Fanconi anemia 227646 Review for gene: FANCD2 was set to GREEN