Gene Symbol:
PHIP
HGNC:15673
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6q14.1
Filters:

Ambry Genetics classifications

developmental delay, intellectual disability, obesity, and dysmorphic features
Submitted as: OMIM:617991
AD
01/29/2018
Evaluated
03/02/2021
Submitted

ClinGen classifications

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
AD
04/19/2022
Evaluated
04/21/2024
Submitted

Invitae classifications

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Submitted as: OMIM:617991
AD
01/19/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Submitted as: Orphanet:589905
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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