Growth failure
Gene: DNA2EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families described with bi-allelic variants in this gene and a primordial dwarfism/Seckel syndrome phenotype. Note this gene is associated with multiple phenotypes.Created: 20 Aug 2021, 2:18 a.m. | Last Modified: 20 Aug 2021, 2:18 a.m.
Panel Version: 0.237
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 8, MIM#615807
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Seckel syndrome 8, MIM:615807
- OMIM
- 601810
- Clinvar variants
- Variants in DNA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dna2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNA2 were changed from Seckel syndrome 8, OMIM:615807 to Seckel syndrome 8, MIM:615807
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dna2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DNA2 was added gene: DNA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 24389050; 31045292 Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807