Gene Symbol:
NOP10
HGNC:14378
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q14
Filters:

Ambry Genetics classifications

dyskeratosis congenita, autosomal recessive 1
Submitted as: OMIM:224230
AR
12/11/2024
Evaluated
01/17/2025
Submitted
dyskeratosis congenita, autosomal recessive 1
AR
12/11/2024
Evaluated
07/02/2025
Submitted

Labcorp Genetics (formerly Invitae) classifications

dyskeratosis congenita, autosomal recessive 1
Submitted as: OMIM:224230
AR
04/09/2020
Evaluated
11/30/2023
Submitted
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
Submitted as: OMIM:620400
Unknown
07/21/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

dyskeratosis congenita
Submitted as: Orphanet:1775
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

dyskeratosis congenita, autosomal recessive 1
Submitted as: OMIM:224230
AR
03/14/2025
Evaluated
07/02/2025
Submitted

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