TEST Undiagnosed metabolic disorders
Gene: PEX16

PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

OMIM

603360

Clinvar variants

Variants in PEX16

Penetrance

None

Publications

27604308

Panels with this gene

Peroxisomal disorders
Childhood onset dystonia, chorea or related movement disorder
Undiagnosed metabolic disorders
Adult onset neurodegenerative disorder
Structural eye disease
Inherited white matter disorders
Ataxia and cerebellar anomalies - narrow panel
Fetal hydrops
Arthrogryposis
Adult onset leukodystrophy
Malformations of cortical development
Likely inborn error of metabolism
Hereditary ataxia with onset in adulthood
Intellectual disability
Ductal plate malformation
Bilateral congenital or childhood onset cataracts
Hereditary ataxia
Fetal anomalies
DDG2P
Neonatal cholestasis
White matter disorders and cerebral calcification - narrow panel

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: PEX16 was added gene: PEX16 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX16 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: PEX16

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: PEX16