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  3. STK36
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Heterotaxy

Gene: STK36

Red List (low evidence)
STK36 (serine/threonine kinase 36)
EnsemblGeneIds (GRCh38): ENSG00000163482
EnsemblGeneIds (GRCh37): ENSG00000163482
OMIM: 607652, Gene2Phenotype
STK36 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous LoF variant, PCD and situs solitus. Some functional data.
Created: 25 May 2020, 7:42 a.m. | Last Modified: 25 May 2020, 7:42 a.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 46, MIM# 619436

Publications

Created: 25 May 2020, 7:42 a.m.
Last Modified: 25 May 2020, 7:42 a.m.
Panel version: 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 46, MIM# 619436
OMIM
607652
Clinvar variants
Variants in STK36
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STK36 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 46, MIM# 619436

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stk36 has been classified as Red List (Low Evidence).

25 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STK36 were changed from to Primary ciliary dyskinesia

25 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STK36 were set to

25 May 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STK36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stk36 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: STK36 was added gene: STK36 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STK36 was set to Unknown