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Severe microcephaly

Gene: AP4M1

No list

AP4M1 (adaptor related protein complex 4 mu 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000221838
EnsemblGeneIds (GRCh37): ENSG00000221838
OMIM: 602296, Gene2Phenotype
AP4M1 is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Despite the OMIM name, this is a complex neurological condition, where microcephaly is an early prominent presenting feature.

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
Sources: Expert list
Created: 31 Aug 2020, 11:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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: AP4M1 was added gene: AP4M1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 28464862; 24700674 Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive (MIM#612936) Review for gene: AP4M1 was set to GREEN gene: AP4M1 was marked as current diagnostic