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Severe microcephaly

Gene: AP4S1

No list

AP4S1 (adaptor related protein complex 4 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000100478
EnsemblGeneIds (GRCh37): ENSG00000100478
OMIM: 607243, Gene2Phenotype
AP4S1 is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Borderline Amber/Green as only one affected individual <-3SD; however, part of same gene family as other spastic paraplegias with microcephaly. Microcephaly in another family -2SD and precise information on the microcephaly not available for third family.
Sources: Expert list
Created: 31 Aug 2020, 11:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

31 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AP4S1 was added gene: AP4S1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4S1 were set to 21620353; 25552650; 27444738 Phenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive (MIM#614067) Review for gene: AP4S1 was set to GREEN gene: AP4S1 was marked as current diagnostic