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Microcephaly

Gene: AP4S1

Green List (high evidence)

AP4S1 (adaptor related protein complex 4 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000100478
EnsemblGeneIds (GRCh37): ENSG00000100478
OMIM: 607243, Gene2Phenotype
AP4S1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Borderline Amber/Green as only one affected individual <-3SD; however, part of same gene family as other spastic paraplegias with microcephaly.
Created: 31 Aug 2020, 6:08 a.m. | Last Modified: 31 Aug 2020, 6:08 a.m.
Panel Version: 0.177

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 21620353
- 1 family with 3 affecteds but only 1 with < -3 SD
- homozygous PTV

PMID: 25552650;
- pair of sisters, from non-consanguineous parents
- cHET PTVs

PMID: 27444738;
- 3 families but all have a head circumference of -2 SD
Created: 31 Aug 2020, 2:15 a.m. | Last Modified: 31 Aug 2020, 2:15 a.m.
Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 52, autosomal recessive (MIM#614067)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 52, autosomal recessive (MIM#614067)
OMIM
607243
Clinvar variants
Variants in AP4S1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap4s1 has been classified as Green List (High Evidence).

31 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive (MIM#614067)

31 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP4S1 were set to

31 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP4S1 was added gene: AP4S1 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP4S1 was set to Unknown