Structural eye disease
Gene: RIPK4
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
Phenotypes
Popliteal Pterygium Syndrome
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)
Source Expert Review Amber was added to RIPK4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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