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  2. Hereditary Spastic Paraplegia - adult onset
  3. AP5Z1
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Hereditary Spastic Paraplegia - adult onset

Gene: AP5Z1

Green List (high 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)

Green List (high evidence)

Onset is generally in adulthood.
Sources: Expert list
Created: 12 Jun 2020, 12:41 a.m. | Last Modified: 15 Mar 2021, 11:04 a.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 48, autosomal recessive, MIM# 613647

Publications

Created: 12 Jun 2020, 12:41 a.m.
Last Modified: 15 Mar 2021, 11:04 a.m.
Panel version: 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, MIM# 613647
  • MONDO:0013342
OMIM
613653
Clinvar variants
Variants in AP5Z1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP5Z1 were set to 26085577

15 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap5z1 has been classified as Green List (High Evidence).

15 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP5Z1 were changed from Spastic paraplegia 48, autosomal recessive, MIM# 613647 to Spastic paraplegia 48, autosomal recessive, MIM# 613647; MONDO:0013342

15 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive, 613647; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, MIM# 613647

15 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP5Z1 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP5Z1 were set to Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive, 613647; Spastic paraplegia 48, autosomal recessive