Microcephaly
Gene: AP4M1

AP4M1 (adaptor related protein complex 4 mu 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000221838
EnsemblGeneIds (GRCh37): ENSG00000221838
OMIM: 602296, Gene2Phenotype
AP4M1 is in 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 28464862;
- 1x with severe progressive microcephaly (< - 4 SD)
- homozygous nonsense

PMID: 24700674;
- 2x unrelated patients (1 and 3) < -3 SD head circumference
- 2x homozygous nonsense
Created: 31 Aug 2020, 1:49 a.m. | Last Modified: 31 Aug 2020, 1:53 a.m.

Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 50, autosomal recessive (MIM#612936)

Publications

Created: 31 Aug 2020, 1:49 a.m.
Last Modified: 31 Aug 2020, 1:53 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 50, autosomal recessive (MIM#612936)

OMIM

602296

Clinvar variants

Variants in AP4M1

Penetrance

None

Publications

Panels with this gene