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  3. RSPH4A
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Heterotaxy

Gene: RSPH4A

Red List (low evidence)
RSPH4A (radial spoke head 4 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000111834
EnsemblGeneIds (GRCh37): ENSG00000111834
OMIM: 612647, Gene2Phenotype
RSPH4A is in 10 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Gene is associated with PCD without situs invertus (OMIM)
8 families reported and none showed laterality defects (all presented with situs solitus) (PMID: 25789548)
Created: 26 May 2020, 11:57 p.m. | Last Modified: 26 May 2020, 11:57 p.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 11 (MIM#612649)

Publications

Created: 26 May 2020, 11:57 p.m.
Last Modified: 26 May 2020, 11:57 p.m.
Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 11 (MIM#612649)
OMIM
612647
Clinvar variants
Variants in RSPH4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsph4a has been classified as Red List (Low Evidence).

27 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11 (MIM#612649)

27 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RSPH4A were set to

27 May 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsph4a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RSPH4A was added gene: RSPH4A was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RSPH4A was set to Unknown