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  3. RIPK4
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Structural eye disease

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 6 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Abdalla reported a family with two cases affected by Bortsocas-papas syndrome and microphthalmia, sequencing not done. Mitchell reported case affected by Bartsocas-papas syndrome with cloudy corneas and a homozygous nonsense variant (segregates in parents). Kalay reported four cases from three families with cloudy corneas and bartsocas-papas syndrome, two related cases with homozygous missense, one case with homozygous missense and one case with homozygous frameshift, all heterozygous in parents.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Popliteal Pterygium Syndrome

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type, 263650
OMIM
605706
Clinvar variants
Variants in RIPK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 3

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to RIPK4. Source NHS GMS was added to RIPK4. Publications for gene RIPK4 were changed from to 22197489; 23074676; 22197488 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to RIPK4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: RIPK4 was added gene: RIPK4 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type, 263650