Gene Symbol:
PIGL
HGNC:8966
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17p11.2
Filters:

Definitive classifications

CHIME syndrome
Submitted as: OMIM:280000
AR
07/22/2015
Evaluated
11/25/2020
Submitted

Strong classifications

CHIME syndrome
Submitted as: OMIM:280000
AR
01/29/2021
Evaluated
03/31/2021
Submitted
CHIME syndrome
Submitted as: OMIM:280000
AR
02/26/2021
Evaluated
05/25/2021
Submitted

Supportive classifications

CHIME syndrome
Submitted as: Orphanet:3474
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hyperphosphatasia-intellectual disability syndrome
Submitted as: Orphanet:247262
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

CHIME syndrome
Submitted as: OMIM:280000
AR
08/31/2018
Evaluated
03/02/2021
Submitted

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