Retinal disorders

Gene: POMGNT1

Review submitted on behalf of Robert Henderson, Mr Chien Wong, Mr CK Patel. Publications: Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C. POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. Arch Neurol. 2006 Oct;63(10):1491-5; Peiris TJ, Indaram M, Koo E, Soul JS, Hunter DG. Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. J AAPOS. 2018 Jun;22(3):242-244.e1. doi: 10.1016/j.jaapos.2017.12.011;

Created: 21 Dec 2022, 4:51 p.m. | Last Modified: 21 Dec 2022, 4:51 p.m.

Panel Version: 3.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
non-syndromic Retinitis Pigmentosa; Walker Warburg syndrome, Muscle-eye-brain disease; dystroglycanopathy; retinal detachment

Green List (high evidence)

Four families reported with isolated RP and bi-allelic variants in this gene.

Created: 13 Oct 2020, 7:44 a.m. | Last Modified: 13 Oct 2020, 7:44 a.m.

Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 76, MIM#617123

Publications

• 27391550
• 26908613

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.

Created: 27 Jan 2021, 10:30 a.m. | Last Modified: 27 Jan 2021, 10:30 a.m.

Panel Version: 2.133

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.

Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5