Hereditary Spastic Paraplegia - paediatric

Gene: AP4M1

Green List (high evidence)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development.

More than 5 unrelated families reported.
Created: 13 Mar 2021, 9:23 a.m. | Last Modified: 13 Mar 2021, 9:23 a.m.
Panel Version: 0.168

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 50, autosomal recessive, MIM# 612936

Publications

History Filter Activity

13 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap4m1 has been classified as Green List (High Evidence).

13 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP4M1 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AP4M1 was added gene: AP4M1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936