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  2. Hereditary Spastic Paraplegia - paediatric
  3. PGAP1
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Hereditary Spastic Paraplegia - paediatric

Gene: PGAP1

Red List (low evidence)
PGAP1 (post-GPI attachment to proteins 1)
EnsemblGeneIds (GRCh38): ENSG00000197121
EnsemblGeneIds (GRCh37): ENSG00000197121
OMIM: 611655, Gene2Phenotype
PGAP1 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family reported with a complicated HSP phenotype.
Created: 19 Apr 2020, 11 a.m. | Last Modified: 19 Apr 2020, 11 a.m.
Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive MIM#42

Publications

Created: 19 Apr 2020, 11 a.m.
Last Modified: 19 Apr 2020, 11 a.m.
Panel version: 0.73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Mental retardation, autosomal recessive 42
OMIM
611655
Clinvar variants
Variants in PGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pgap1 has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pgap1 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PGAP1 was added gene: PGAP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP1 were set to 24482476 Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42