Structural eye disease
Gene: PUF60
El Chehadeh et al. 2016: 1 case with coloboma amongs others with ID, Low et al. 2017: 2 cases with microphthalmia/coloboma among cases with ID. Missense variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). El Chehadeh et al. 2016: 1 case with coloboma amongs others with ID, Low et al. 2017: 2 cases with microphthalmia/coloboma among cases with ID. Missense variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to PUF60. Mode of pathogenicity for gene PUF60 was changed from to Other - please provide details in the comments Added phenotypes Verheij syndrome, 615583; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome; VRJS; ocular abnormalities for gene: PUF60 Publications for gene PUF60 were changed from 19464398; 24140112; 27804958; 28327570 to 27804958; 24140112; 28327570; 19464398
gene: PUF60 was added gene: PUF60 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 19464398; 24140112; 27804958; 28327570 Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome