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Mendeliome

Gene: RIPK4

Green List (high evidence)

RIPK4 (receptor interacting serine/threonine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000183421
EnsemblGeneIds (GRCh37): ENSG00000183421
OMIM: 605706, Gene2Phenotype
RIPK4 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported.
Created: 30 Jun 2021, 7:58 a.m. | Last Modified: 30 Jun 2021, 7:58 a.m.
Panel Version: 0.8145

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
OMIM
605706
Clinvar variants
Variants in RIPK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ripk4 has been classified as Green List (High Evidence).

30 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RIPK4 were changed from to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650

30 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RIPK4 were set to

30 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RIPK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RIPK4 was added gene: RIPK4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RIPK4 was set to Unknown