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  2. Hereditary Spastic Paraplegia - paediatric
  3. AP5Z1
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Hereditary Spastic Paraplegia - paediatric

Gene: AP5Z1

Amber List (moderate evidence)
AP5Z1 (adaptor related protein complex 5 zeta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000242802
EnsemblGeneIds (GRCh37): ENSG00000242802
OMIM: 613653, Gene2Phenotype
AP5Z1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Onset is generally in adulthood though at least one individual with childhood onset reported.
Sources: Expert list
Created: 12 Jun 2020, 12:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 48, autosomal recessive, MIM# 613647

Publications

Created: 12 Jun 2020, 12:41 a.m.

Panel version: 0.92

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, MIM# 613647
OMIM
613653
Clinvar variants
Variants in AP5Z1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap5z1 has been classified as Amber List (Moderate Evidence).

12 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap5z1 has been classified as Amber List (Moderate Evidence).

12 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to 26085577 Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive, MIM# 613647 Review for gene: AP5Z1 was set to AMBER