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Fetal anomalies

Gene: POMK

Green List (high evidence)

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on list classification: Updated rating from Amber to Green: Fetally-relevant phenotype (hydrocephalus and macrocephaly detected in utero in patient in PMID:24925318) plus sufficient cases in literature/OMIM to support causation. Plus POMK is rated Green on relevant PanelApp panels including Congenital muscular dystrophy/Hydrocephalus/Arthrogryposis.
Created: 24 Apr 2019, 8:18 p.m.
Comment on publications: POMK is called SGK196 in PMID:23519211.
Created: 24 Apr 2019, 8:14 p.m.
Patient 3 in PMID:24925318 (Di Costanzo et al, 2014) was an Italian male presenting with the most severe form of dystroglycanopathy, Walker–Warburg syndrome (WWS) and compound het variants in POMK. Macrocephaly and hydrocephalus were diagnosed in utero upon prenatal ultrasound at 32 weeks of gestation.
Created: 24 Apr 2019, 8:13 p.m.
POMK was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) POMK is listed as an Additional gene based on association with a prenatal phenotype reported in the literature (Supplementary Table 2). POMK is not currently associated with a disorder in DD-Gene2Phenotype but is associated with 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249' in OMIM.
Created: 24 Apr 2019, 7:51 p.m.
Rating in original (Additional gene) PAGE list for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A: Probable. Mode of inheritance: biallelic. Mode of pathogenicity: loss of function.
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
OMIM
615247
Clinvar variants
Variants in POMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

24 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

24 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pomk has been classified as Amber List (Moderate Evidence).

24 Apr 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: POMK were set to 23519211; 24925318

24 Apr 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: POMK were set to

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: POMK was added gene: POMK was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249