Gene Symbol:
UNC80
HGNC:26582
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q34
Filters:

Definitive classifications

hypotonia, infantile, with psychomotor retardation and characteristic facies 2
AD
09/10/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The UNC80 gene is located on chromosome 2 at 2q34 and encodes unc-80 homolog, NALCN channel complex... Read more
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
AR
07/30/2021
Evaluated
04/21/2024
Submitted

Strong classifications

hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Submitted as: OMIM:616801
AR
04/17/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

hypotonia, infantile, with psychomotor retardation and characteristic facies
Submitted as: Orphanet:371364
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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