Gene Symbol:
DYNC1H1
HGNC:2961
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q32.31
Filters:

ClinGen classifications

neuronopathy, distal hereditary motor
AD
07/12/2023
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Submitted as: OMIM:158600
AD
01/04/2021
Evaluated
03/31/2021
Submitted

Invitae classifications

intellectual disability, autosomal dominant 13
Submitted as: OMIM:614563
AD
10/06/2022
Evaluated
11/30/2023
Submitted
Charcot-Marie-Tooth disease axonal type 2O
Submitted as: OMIM:614228
AD
07/17/2020
Evaluated
11/30/2023
Submitted

Orphanet classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Submitted as: Orphanet:209341
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease axonal type 2O
Submitted as: Orphanet:284232
AD
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

intellectual disability, autosomal dominant 13
Submitted as: OMIM:614563
AD
01/18/2021
Evaluated
03/09/2021
Submitted

G2P classifications

autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Submitted as: OMIM:158600
AD
07/22/2015
Evaluated
09/11/2023
Submitted
intellectual disability, autosomal dominant 13
Submitted as: OMIM:614563
AD
07/22/2015
Evaluated
07/01/2021
Submitted

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