Gene Symbol:
RECQL4
HGNC:9949
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q24.3
Filters:

ClinGen classifications

Rothmund-Thomson syndrome
AR
10/11/2018
Evaluated
10/18/2023
Submitted

Genomics England PanelApp classifications

rapadilino syndrome
Submitted as: OMIM:266280
AR
02/11/2021
Evaluated
03/31/2021
Submitted
Rothmund-Thomson syndrome type 2
Submitted as: OMIM:268400
AR
02/11/2021
Evaluated
03/31/2021
Submitted

Invitae classifications

Rothmund-Thomson syndrome type 2
Submitted as: OMIM:268400
AR
06/23/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

Baller-Gerold syndrome
Submitted as: Orphanet:1225
AR
09/14/2021
Evaluated
09/14/2021
Submitted
rapadilino syndrome
Submitted as: Orphanet:3021
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Rothmund-Thomson syndrome type 2
Submitted as: Orphanet:221016
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

Baller-Gerold syndrome
Submitted as: OMIM:218600
AR
10/08/2020
Evaluated
11/09/2020
Submitted

G2P classifications

Baller-Gerold syndrome
Submitted as: OMIM:218600
AR
07/22/2015
Evaluated
09/11/2023
Submitted
Rothmund-Thomson syndrome type 2
Submitted as: OMIM:268400
AR
08/30/2017
Evaluated
09/11/2023
Submitted

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