Gene Symbol:
NEUROD1
HGNC:7762
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q31.3
Filters:

ClinGen classifications

AD
10/13/2021
Evaluated
04/21/2024
Submitted
AR
03/10/2021
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
AR
02/19/2020
Evaluated
03/31/2021
Submitted
maturity-onset diabetes of the young type 6
Submitted as: OMIM:606394
AR
02/19/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

maturity-onset diabetes of the young type 6
Submitted as: OMIM:606394
AD
01/18/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

maturity-onset diabetes of the young
Submitted as: Orphanet:552
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Franklin by Genoox classifications

retinitis pigmentosa
AR
07/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: A proband from the consanguineous autosomal recessive retinitis pigmantosa family underwent DNA exam... Read more

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