Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POGLUT1
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 21 POGLUT1 variants have been reported in at least 20 unrelated cases (PMID: 27807076; 31897643; 33861953). Supportive in vitro and in vivo functional studies were presented in PMID: 31897643.Created: 28 Feb 2023, 6:07 p.m. | Last Modified: 28 Feb 2023, 6:07 p.m.
Panel Version: 3.9
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 28 Feb 2023, 5:35 p.m. | Last Modified: 28 Feb 2023, 5:35 p.m.
Panel Version: 3.7
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMID: 31897643 reports seven POGLUT1 variants in six families with Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232. Supportive in vitro and in vivo functional studies were presented in PMID: 31897643.Created: 28 Feb 2023, 5:34 p.m. | Last Modified: 28 Feb 2023, 5:34 p.m.
Panel Version: 3.6
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232; autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Publications
15 patients from 9 unrelated families with novel pathogenic variants.
Unique muscle imaging pattern of “inside-to-outside” fatty degeneration
Onset in childhood or adulthoodCreated: 7 Dec 2022, 11:04 a.m. | Last Modified: 7 Dec 2022, 11:04 a.m.
Panel Version: 3.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
limb girdle weakness; thigh weakness; muscle MRI abnormality
Publications
Comment on list classification: Promoted from Red to Amber based on the review and comments from Chiara Marini Bettolo (NUTH), however only one variant has been reported to date.Created: 28 Nov 2019, 4:29 p.m. | Last Modified: 28 Nov 2019, 4:34 p.m.
Panel Version: 1.127
new gene added after analysis. Currently provided by HSS for LGMDin Ncl via LGMD panel. Known form of LGMD2Z or LGMDR21Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Sources: Expert listCreated: 10 May 2019, 2:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Limb-girdle muscular dystrophy
Publications
Publications for gene: POGLUT1 were set to 27807076; 29034878
Phenotypes for gene: POGLUT1 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 to Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232; autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977
Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: POGLUT1.
Publications for gene: POGLUT1 were set to 27807076
Gene: poglut1 has been classified as Amber List (Moderate Evidence).
Gene: poglut1 has been classified as Green List (High Evidence).
Phenotypes for gene: POGLUT1 were changed from Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232
Source NHS GMS was added to POGLUT1.
Source Yorkshire and North East GLH was added to POGLUT1.
Gene: poglut1 has been classified as Red List (Low Evidence).
gene: POGLUT1 was added gene: POGLUT1 was added to Limb girdle muscular dystrophy. Sources: Expert list Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POGLUT1 were set to 27807076 Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy Review for gene: POGLUT1 was set to GREEN