Gene Symbol:
TRAPPC11
HGNC:25751
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4q35.1
Filters:

Definitive classifications

autosomal recessive limb-girdle muscular dystrophy type 2S
AR
02/01/2019
Evaluated
10/13/2020
Submitted

Strong classifications

autosomal recessive limb-girdle muscular dystrophy type 2S
Submitted as: OMIM:615356
AR
07/22/2015
Evaluated
11/25/2020
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2S
Submitted as: OMIM:615356
AR
07/13/2020
Evaluated
05/25/2021
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2S
Submitted as: OMIM:615356
AR
04/14/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Supportive classifications

triple-A syndrome
Submitted as: Orphanet:869
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2S
Submitted as: Orphanet:369840
AR
09/14/2021
Evaluated
09/14/2021
Submitted
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Submitted as: Orphanet:369847
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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