Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: DPH5

Green List (high evidence)

DPH5 (diphthamide biosynthesis 5)
EnsemblGeneIds (GRCh38): ENSG00000117543
EnsemblGeneIds (GRCh37): ENSG00000117543
OMIM: 611075, Gene2Phenotype
DPH5 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 individuals from 3 unrelated families reported with severe ID, feeding difficulties, dysmorphic features and congenital anomalies, though there was no consistent pattern to these.
Sources: Literature
Created: 9 Oct 2022, 5:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070
OMIM
611075
Clinvar variants
Variants in DPH5
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dph5 has been classified as Green List (High Evidence).

9 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dph5 has been classified as Green List (High Evidence).

9 Oct 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPH5 was added gene: DPH5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPH5 were set to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070 Review for gene: DPH5 was set to GREEN