Gene Symbol:
RNU4ATAC
HGNC:34016
Locus Group:
non-coding RNA
Locus Type:
RNA, small nuclear
Location:
2q14.2
Filters:

Definitive classifications

microcephalic osteodysplastic primordial dwarfism type I
Submitted as: OMIM:210710
AR
07/22/2015
Evaluated
09/11/2023
Submitted
AR
01/28/2019
Evaluated
10/27/2022
Submitted

Strong classifications

microcephalic osteodysplastic primordial dwarfism type I
Submitted as: OMIM:210710
AR
04/16/2021
Evaluated
11/30/2023
Submitted
Roifman syndrome
Submitted as: OMIM:616651
AR
07/08/2020
Evaluated
11/30/2023
Submitted
RNU4ATAC spectrum disorder
AR
08/16/2022
Evaluated
12/04/2024
Submitted

Moderate classifications

microcephalic osteodysplastic primordial dwarfism type I
Submitted as: OMIM:210710
AR
01/03/2018
Evaluated
12/24/2020
Submitted
Roifman syndrome
Submitted as: OMIM:616651
AR
01/03/2018
Evaluated
12/24/2020
Submitted

Limited classifications

Lowry-Wood syndrome
Submitted as: OMIM:226960
AR
01/03/2018
Evaluated
12/24/2020
Submitted

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