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  3. DOHH
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Severe microcephaly

Gene: DOHH

Green List (high evidence)
DOHH (deoxyhypusine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000129932
EnsemblGeneIds (GRCh37): ENSG00000129932
OMIM: 611262, Gene2Phenotype
DOHH is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 2:56 p.m. | Last Modified: 10 Oct 2023, 2:56 p.m.
Panel Version: 4.33
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 29 Sep 2022, 2:53 p.m. | Last Modified: 29 Sep 2022, 2:53 p.m.
Panel Version: 2.319
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35858628 reports six DOHH variants in three unrelated cases of a neurodevelopmental disorder. All of these cases had intellectual disability, microcephaly and hypotonia.
Sources: Literature
Created: 29 Sep 2022, 2:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DOHH associated neurodevelopmental disorder

Publications

Created: 29 Sep 2022, 2:43 p.m.

Copied from panel: Intellectual disability v3.1731

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
OMIM
611262
Clinvar variants
Variants in DOHH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DOHH were changed from DOHH associated neurodevelopmental disorder to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_22_MOI was removed from gene: DOHH. Tag Q4_22_promote_green was removed from gene: DOHH.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to DOHH. Source NHS GMS was added to DOHH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Oct 2022, Gel status: 2

Removed Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_22_rating was removed from gene: DOHH. Tag Q4_22_promote_green tag was added to gene: DOHH.

29 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dohh has been classified as Amber List (Moderate Evidence).

29 Sep 2022, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: DOHH was added gene: DOHH was added to Severe microcephaly. Sources: Literature Q4_22_rating, Q4_22_MOI tags were added to gene: DOHH. Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOHH were set to 35858628 Phenotypes for gene: DOHH were set to DOHH associated neurodevelopmental disorder