Likely inborn error of metabolism - targeted testing not possible
Gene: POMK
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 8 Feb 2021, 4:40 p.m. | Last Modified: 8 Feb 2021, 4:40 p.m.
Panel Version: 2.63
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for OMIM:615249. At least five variants reported in at least three unrelated cases of OMIM:615249.Created: 8 Feb 2021, 4:38 p.m. | Last Modified: 8 Feb 2021, 4:38 p.m.
Panel Version: 2.62
Other enzyme deficiencies causing dystroglycanopathies are included in the panel.
Sources: Expert ReviewCreated: 7 Feb 2021, 3:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: POMK.
Source Expert Review Green was added to POMK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pomk has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: POMK.
Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094; limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Publications for gene: POMK were set to 23519211; 24556084; 24925318
gene: POMK was added gene: POMK was added to Inborn errors of metabolism. Sources: Expert Review Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 23519211; 24556084; 24925318 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) Review for gene: POMK was set to GREEN gene: POMK was marked as current diagnostic