Microcephaly
Gene: AP4S1Comment 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
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 SDCreated: 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
Gene: ap4s1 has been classified as Green List (High Evidence).
Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive (MIM#614067)
Publications for gene: AP4S1 were set to
Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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