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  3. DTHD1
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Syndromic Retinopathy

Gene: DTHD1

Red List (low evidence)
DTHD1 (death domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000197057
EnsemblGeneIds (GRCh37): ENSG00000197057
OMIM: 616979, Gene2Phenotype
DTHD1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported with homozygous initiation codon variant. Reduced protein expression demonstrated by Western blot.
Sources: Expert list
Created: 24 May 2020, 11:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis with muscle dystrophy

Publications

Created: 24 May 2020, 11:07 p.m.

Panel version: 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leber congenital amaurosis with muscle dystrophy
OMIM
616979
Clinvar variants
Variants in DTHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DTHD1 was added gene: DTHD1 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: DTHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DTHD1 were set to 23105016 Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with muscle dystrophy Review for gene: DTHD1 was set to RED