Gene Symbol:
CCDC88C
HGNC:19967
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q32.11-q32.12
Filters:

Strong classifications

hydrocephalus, nonsyndromic, autosomal recessive 1
Submitted as: OMIM:236600
AR
01/08/2016
Evaluated
09/11/2023
Submitted
hydrocephalus, nonsyndromic, autosomal recessive 1
Submitted as: OMIM:236600
AR
01/29/2021
Evaluated
03/31/2021
Submitted
hydrocephalus, nonsyndromic, autosomal recessive 1
Submitted as: OMIM:236600
AR
06/29/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

spinocerebellar ataxia type 40
Submitted as: OMIM:616053
AD
01/28/2021
Evaluated
03/31/2021
Submitted
hydrocephalus, nonsyndromic, autosomal recessive 1
Submitted as: OMIM:236600
AR
01/22/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

spinocerebellar ataxia type 40
Submitted as: Orphanet:423275
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

spinocerebellar ataxia type 40
Submitted as: OMIM:616053
AD
11/04/2020
Evaluated
03/02/2021
Submitted
spinocerebellar ataxia type 40
Submitted as: OMIM:616053
AD
02/16/2023
Evaluated
11/30/2023
Submitted

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