Gene Symbol:
NBAS
HGNC:15625
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p24.3
Filters:

Definitive classifications

infantile liver failure syndrome 2
Submitted as: OMIM:616483
AR
09/18/2019
Evaluated
09/11/2023
Submitted
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
AR
06/02/2022
Evaluated
10/27/2022
Submitted

Strong classifications

short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Submitted as: OMIM:614800
AR
08/29/2017
Evaluated
09/11/2023
Submitted
infantile liver failure syndrome 2
Submitted as: OMIM:616483
AR
05/01/2023
Evaluated
11/30/2023
Submitted
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Submitted as: OMIM:614800
AR
12/15/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Submitted as: Orphanet:391677
AR
09/14/2021
Evaluated
09/14/2021
Submitted
infantile liver failure syndrome 2
Submitted as: Orphanet:464724
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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