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 Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	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
Amber POGLUT1 in Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags Q4_22_promote_green Q4_22_NHS_review
Amber POGLUT1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) 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 Tags Q1_23_promote_green
Red POGLUT1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services