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  3. POMGNT1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: POMGNT1

Green List (high evidence)
POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 20 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported with isolated RP and bi-allelic variants in this gene.
Created: 13 Oct 2020, 7:42 a.m. | Last Modified: 13 Oct 2020, 7:42 a.m.
Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 76, MIM#617123

Publications

Created: 13 Oct 2020, 7:42 a.m.
Last Modified: 13 Oct 2020, 7:42 a.m.
Panel version: 0.76

History Filter Activity

13 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pomgnt1 has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POMGNT1 were changed from Retinitis pigmentosa 76 to Retinitis pigmentosa 76, MIM#617123

13 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POMGNT1 were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POMGNT1 was added gene: POMGNT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Retinitis pigmentosa 76