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Fetal anomalies

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

2 reviews

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.

Microcephaly and ventriculomegaly are features.
Created: 13 Mar 2021, 9:26 a.m. | Last Modified: 5 Dec 2021, 10:19 p.m.
Panel Version: 0.949

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 50, autosomal recessive, MIM# 612936

Publications

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

History Filter Activity

5 Dec 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).

5 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, MIM# 612936

5 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP4M1 were set to

5 Dec 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP4M1 was added gene: AP4M1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3