Fetal anomalies
Gene: POMK

POMK (protein-O-mannose kinase)
EnsemblGeneIds (GRCh38): ENSG00000185900
EnsemblGeneIds (GRCh37): ENSG00000185900
OMIM: 615247, Gene2Phenotype
POMK is in 13 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.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.318

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