Gene Symbol:
PQBP1
HGNC:9330
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.23
Filters:

ClinGen classifications

Renpenning syndrome
XL
11/09/2018
Evaluated
04/21/2024
Submitted

Invitae classifications

Renpenning syndrome
Submitted as: OMIM:309500
XL
03/10/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

X-linked intellectual disability, Porteous type
Submitted as: Orphanet:93945
XL
09/14/2021
Evaluated
09/14/2021
Submitted
hamel cerebro-palato-cardiac syndrome
Submitted as: Orphanet:93946
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked intellectual disability, Golabi-Ito-hall type
Submitted as: Orphanet:93947
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked intellectual disability, Sutherland-Haan type
Submitted as: Orphanet:93950
XL
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Renpenning syndrome
Submitted as: OMIM:309500
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Renpenning syndrome
Submitted as: OMIM:309500
XL
07/22/2015
Evaluated
09/11/2023
Submitted

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