Clefting disorders
Gene: RIPK4EnsemblGeneIds (GRCh38): ENSG00000183421
EnsemblGeneIds (GRCh37): ENSG00000183421
OMIM: 605706, Gene2Phenotype
RIPK4 is in 8 panels
1 review
Chirag Patel (Genetic Health Queensland)
Clefting well associated with this syndrome
Sources: LiteratureCreated: 28 Jun 2021, 10:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650
- OMIM
- 605706
- Clinvar variants
- Variants in RIPK4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ripk4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ripk4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ripk4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: RIPK4 was added gene: RIPK4 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK4 were set to PMID: 28940926; 22197489; 22197488 Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650 Review for gene: RIPK4 was set to GREEN gene: RIPK4 was marked as current diagnostic