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  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. RIPK4
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Multiple pterygium syndrome_Fetal akinesia sequence

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.
Sources: Expert Review
Created: 16 Jul 2020, 7:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 16 Jul 2020, 7:38 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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

16 Jul 2020, 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).

16 Jul 2020, 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).

16 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RIPK4 was added gene: RIPK4 was added to Multiple pterygium syndrome. Sources: Expert Review Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK4 were set to 28940926; 22197489; 22197488 Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650 Review for gene: RIPK4 was set to GREEN