Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: POMK

Green List (high evidence)

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 10 panels

2 reviews

Alice Gardham (Genomics England)

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Mar 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for POMK was changed to BIALLELIC, autosomal or pseudoautosomal

30 Mar 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

9 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POMK was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POMK was created by ellenmcdonagh