1. Panels
  2. Hydrocephalus_Ventriculomegaly
  3. CWH43
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrocephalus_Ventriculomegaly

Gene: CWH43

Red List (low evidence)
CWH43 (cell wall biogenesis 43 C-terminal homolog)
EnsemblGeneIds (GRCh38): ENSG00000109182
EnsemblGeneIds (GRCh37): ENSG00000109182
CWH43 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals with recurrent deletion reported.
Sources: Expert Review
Created: 3 Aug 2022, 5:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hydrocephalus MONDO:0001150, CWH43-related

Publications

Created: 3 Aug 2022, 5:58 a.m.

Panel version: 0.118

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Hydrocephalus MONDO:0001150, CWH43-related
Tags
cnv
Clinvar variants
Variants in CWH43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cwh43 has been classified as Red List (Low Evidence).

3 Aug 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CWH43 was added gene: CWH43 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review cnv tags were added to gene: CWH43. Mode of inheritance for gene: CWH43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CWH43 were set to 33459505; 34380733 Phenotypes for gene: CWH43 were set to Hydrocephalus MONDO:0001150, CWH43-related Review for gene: CWH43 was set to RED