Gene Symbol:
GCH1
HGNC:4193
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q22.2
Filters:

Definitive classifications

GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Submitted as: OMIM:233910
AR
07/22/2015
Evaluated
11/25/2020
Submitted
AD
07/22/2015
Evaluated
11/25/2020
Submitted
AD
03/22/2018
Evaluated
03/02/2021
Submitted
GTP cyclohydrolase I deficiency
SD
12/11/2020
Evaluated
08/16/2021
Submitted

Strong classifications

AD
02/18/2021
Evaluated
03/31/2021
Submitted
AR
02/18/2021
Evaluated
03/31/2021
Submitted
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Submitted as: OMIM:233910
AR
02/18/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Submitted as: Orphanet:2102
AR
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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