Microcephaly
Gene: AP4E1

AP4E1 (adaptor related protein complex 4 epsilon 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000081014
EnsemblGeneIds (GRCh37): ENSG00000081014
OMIM: 607244, Gene2Phenotype
AP4E1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. Microcephaly is a prominent, presenting feature. At least 3 families reported.
Created: 30 Aug 2020, 5:52 a.m. | Last Modified: 30 Aug 2020, 5:52 a.m.

Panel Version: 0.164

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 51, autosomal recessive, MIM# 613744

Publications

Created: 30 Aug 2020, 5:52 a.m.
Last Modified: 30 Aug 2020, 5:52 a.m.
Panel version: 0.164

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Spastic paraplegia 51, autosomal recessive, MIM# 613744

OMIM

607244

Clinvar variants

Variants in AP4E1

Penetrance

None

Publications

Panels with this gene