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Severe Paediatric Disorders

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 21 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: POMGNT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3) | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) | Retinitis pigmentosa 76, 617123 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157
  • Retinitis pigmentosa 76, 617123
OMIM
606822
Clinvar variants
Variants in POMGNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene POMGNT1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Retinitis pigmentosa 76, 617123; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 for gene: POMGNT1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to POMGNT1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to POMGNT1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: POMGNT1 was added gene: POMGNT1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POMGNT1 was set to