Gene Symbol:
RBM8A
HGNC:9905
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q21.1
Filters:

Definitive classifications

thrombocytopenia-absent radius syndrome
Submitted as: OMIM:274000
AR
07/22/2015
Evaluated
09/11/2023
Submitted
thrombocytopenia-absent radius syndrome
Submitted as: OMIM:274000
AR
05/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
thrombocytopenia-absent radius syndrome
AR
05/15/2020
Evaluated
04/21/2024
Submitted

Strong classifications

thrombocytopenia-absent radius syndrome
Submitted as: OMIM:274000
AR
05/27/2021
Evaluated
11/30/2023
Submitted
thrombocytopenia-absent radius syndrome
Submitted as: OMIM:274000
AR
12/06/2021
Evaluated
08/19/2023
Submitted

Supportive classifications

thrombocytopenia-absent radius syndrome
Submitted as: Orphanet:3320
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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