POGLUT1

protein O-glucosyltransferase 1
OMIM: 615618, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green POGLUT1 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes DDD4 DOWLING-DEGOS DISEASE 4 Dowling-Degos disease
Green POGLUT1 in Congenital muscular dystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Amber POGLUT1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Red POGLUT1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services