Cataract
Gene: DNA2EnsemblGeneIds (GRCh38): ENSG00000138346
EnsemblGeneIds (GRCh37): ENSG00000138346
OMIM: 601810, Gene2Phenotype
DNA2 is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, type 4, MIM# 620819
Seb Lunke (Victorian Clinical Genetics Services)
A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation.
Sources: LiteratureCreated: 4 May 2023, 2:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Rothmund-Thomson syndrome, type 4, MIM# 620819
- OMIM
- 601810
- Clinvar variants
- Variants in DNA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNA2 were changed from Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated to Rothmund-Thomson syndrome, type 4, MIM# 620819
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: DNA2 were set to 37133451
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: dna2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: dna2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: DNA2 was added gene: DNA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to 37133451 Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Review for gene: DNA2 was set to AMBER