Microcephaly
Gene: AP4S1

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

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

Created: 31 Aug 2020, 2:15 a.m.
Last Modified: 31 Aug 2020, 2:15 a.m.
Panel version: 0.171

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