×
Entrez Id:
9487
Gene Symbol:
PIGL
PIGL
Zunich neuroectodermal syndrome
0.730
Biomarker
GENOMICS_ENGLAND
Taken together, these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving PIGL .
28371479
2017
×
Entrez Id:
9487
Gene Symbol:
PIGL
PIGL
Zunich neuroectodermal syndrome
0.730
Biomarker
GENOMICS_ENGLAND
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome .
22444671
2012
×
Entrez Id:
9487
Gene Symbol:
PIGL
PIGL
Zunich neuroectodermal syndrome
0.730
Biomarker
GENOMICS_ENGLAND
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome .
22444671
2012
×
Entrez Id:
9487
Gene Symbol:
PIGL
PIGL
Zunich neuroectodermal syndrome
0.730
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
5818
Gene Symbol:
NECTIN1
NECTIN1
Zlotogora-Ogur syndrome
0.730
Biomarker
GENOMICS_ENGLAND
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
10932188
2000
×
Entrez Id:
5818
Gene Symbol:
NECTIN1
NECTIN1
Zlotogora-Ogur syndrome
0.730
Biomarker
GENOMICS_ENGLAND
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
11559849
2001
×
Entrez Id:
5818
Gene Symbol:
NECTIN1
NECTIN1
Zlotogora-Ogur syndrome
0.730
Biomarker
GENOMICS_ENGLAND
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
10932188
2000
ATP6V1B2
Zimmerman Laband syndrome
0.610
Biomarker
GENOMICS_ENGLAND
We also identified a recurrent de novo missense change in ATP6V1B2 , encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS .
25915598
2015
ATP6V1B2
Zimmerman Laband syndrome
0.610
Biomarker
GENOMICS_ENGLAND
We also identified a recurrent de novo missense change in ATP6V1B2 , encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS .
25915598
2015
×
Entrez Id:
3782
Gene Symbol:
KCNN3
KCNN3
Zimmerman Laband syndrome
0.510
Biomarker
GENOMICS_ENGLAND
Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS -associated mutant channels.
31155282
2019
×
Entrez Id:
6651
Gene Symbol:
SON
SON
Zhu-Tokita-Takenouchi-Kim syndrome
0.710
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
6651
Gene Symbol:
SON
SON
Zhu-Tokita-Takenouchi-Kim syndrome
0.710
Biomarker
GENOMICS_ENGLAND
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
27545680
2016
×
Entrez Id:
6651
Gene Symbol:
SON
SON
Zhu-Tokita-Takenouchi-Kim syndrome
0.710
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5189
Gene Symbol:
PEX1
PEX1
Zellweger Syndrome
0.800
Biomarker
GENOMICS_ENGLAND
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
9398847
1997
×
Entrez Id:
5189
Gene Symbol:
PEX1
PEX1
Zellweger Syndrome
0.800
Biomarker
GENOMICS_ENGLAND
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
9398848
1997
×
Entrez Id:
5190
Gene Symbol:
PEX6
PEX6
Zellweger Syndrome
0.560
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
8504
Gene Symbol:
PEX3
PEX3
Zellweger Syndrome
0.560
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
9409
Gene Symbol:
PEX16
PEX16
Zellweger Syndrome
0.540
Biomarker
GENOMICS_ENGLAND
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
20647552
2010
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Zellweger Syndrome
0.540
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
9409
Gene Symbol:
PEX16
PEX16
Zellweger Syndrome
0.540
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
5193
Gene Symbol:
PEX12
PEX12
Zellweger Syndrome
0.530
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5195
Gene Symbol:
PEX14
PEX14
Zellweger Syndrome
0.520
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5192
Gene Symbol:
PEX10
PEX10
Zellweger Syndrome
0.520
Biomarker
GENOMICS_ENGLAND
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
25655951
2015
×
Entrez Id:
55670
Gene Symbol:
PEX26
PEX26
Zellweger Syndrome
0.510
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5824
Gene Symbol:
PEX19
PEX19
Zellweger Syndrome
0.500
Biomarker
GENOMICS_ENGLAND