Congenital muscular dystrophy
Gene: POMKEnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 13 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and >3 family reports for homozygous variants Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12.Created: 6 Jan 2017, 9:46 a.m.
Emma Clement (Great Ormond Street Hospital)
AKA SGK196- dystroglycanopahty phenotype.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
- OMIM
- 615247
- Clinvar variants
- Variants in POMK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Malformations of cortical development
- Congenital muscular dystrophy
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
History Filter Activity
Removed Source
Arina Puzriakova (Genomics England Curator)Source was removed from POMK.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene POMK were changed from to 23519211; 24556084
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POMK.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to POMK. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for POMK was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POMK was added to Congenital muscular dystrophypanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)POMK was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen