Gene Symbol:
GH1
HGNC:4261
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q23.3
Filters:

Definitive classifications

isolated growth hormone deficiency type IA
Submitted as: OMIM:262400
AR
08/25/2023
Evaluated
01/02/2024
Submitted

Strong classifications

isolated growth hormone deficiency type II
Submitted as: OMIM:173100
AD
11/14/2022
Evaluated
11/30/2023
Submitted
isolated growth hormone deficiency type IA
Submitted as: OMIM:262400
AR
09/06/2021
Evaluated
11/30/2023
Submitted
isolated growth hormone deficiency type II
Submitted as: OMIM:173100
AD
08/23/2023
Evaluated
01/02/2024
Submitted

Supportive classifications

short stature due to growth hormone qualitative anomaly
Submitted as: Orphanet:629
AR
09/14/2021
Evaluated
09/14/2021
Submitted
isolated growth hormone deficiency type IA
Submitted as: Orphanet:231662
AR
09/14/2021
Evaluated
09/14/2021
Submitted
isolated growth hormone deficiency type IB
Submitted as: Orphanet:231671
AR
09/14/2021
Evaluated
09/14/2021
Submitted
isolated growth hormone deficiency type II
Submitted as: Orphanet:231679
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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