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| Congenital disorders of glycosylation v3.4 | POMK | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: POMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.4 | POMK | Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.3 | POMK |
Achchuthan Shanmugasundram Source Expert Review Green was added to POMK. Source NHS GMS was added to POMK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital disorders of glycosylation v2.55 | POMK | Sarah Leigh Classified gene: POMK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.55 | POMK | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.55 | POMK | Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.54 | POMK | Sarah Leigh Classified gene: POMK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.54 | POMK | Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.53 | POMK | Sarah Leigh Tag Q2_21_rating tag was added to gene: POMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.53 | POMK | Sarah Leigh reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.53 | POMK | Sarah Leigh Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.52 | POMK | Sarah Leigh Publications for gene: POMK were set to 23519211; 24556084; 24925318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.51 | POMK | Sarah Leigh 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 (congenital with brain and eye anomalies), type A, 12 OMIM:615249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Congenital disorders of glycosylation. Sources: Expert list 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 Added comment: At least 3 families described with muscular dystrophy-dystroglycanopathy type A (PMID:23519211, 24556084, 24925318) 1 family described with muscular dystrophy-dystroglycanopathy type C (PMID:24925318) The POMK gene encodes protein-O-mannose kinase, which is required for proper glycosylation and function of the dystroglycan complex Sources: Expert list |
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