Gene Symbol:
DYNC2LI1
HGNC:24595
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p21
Filters:

Invitae classifications

short-rib thoracic dysplasia 15 with polydactyly
Submitted as: OMIM:617088
AR
10/13/2020
Evaluated
11/30/2023
Submitted

Orphanet classifications

AR
09/14/2021
Evaluated
09/14/2021
Submitted
Ellis-van Creveld syndrome
Submitted as: Orphanet:289
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

short-rib thoracic dysplasia 15 with polydactyly
Submitted as: OMIM:617088
AR
01/17/2022
Evaluated
09/11/2023
Submitted

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