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Mendeliome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals with recurrent deletion reported.
Created: 3 Aug 2022, 5:53 a.m. | Last Modified: 3 Aug 2022, 5:53 a.m.
Panel Version: 1.196

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hydrocephalus MONDO:0001150, CWH43-related

Anna Le Fevre (Victorian Clinical Genetics Services)

I don't know

Sources: Literature
Created: 1 Aug 2022, 2:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
normal pressure hydrocephalus

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Hydrocephalus MONDO:0001150, CWH43-related
Tags
cnv
Clinvar variants
Variants in CWH43
Penetrance
Incomplete
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CWH43 were changed from normal pressure hydrocephalus to Hydrocephalus MONDO:0001150, CWH43-related

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: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cnv tag was added to gene: CWH43.

1 Aug 2022, Gel status: 0

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

Anna Le Fevre (Victorian Clinical Genetics Services)

gene: CWH43 was added gene: CWH43 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CWH43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CWH43 were set to PMID: 33459505; 34380733 Phenotypes for gene: CWH43 were set to normal pressure hydrocephalus Penetrance for gene: CWH43 were set to Incomplete Review for gene: CWH43 was set to AMBER