Cerebral Palsy
Gene: AP4M1EnsemblGeneIds (GRCh38): ENSG00000221838
EnsemblGeneIds (GRCh37): ENSG00000221838
OMIM: 602296, Gene2Phenotype
AP4M1 is in 12 panels
2 reviews
Clare van Eyk (University of Adelaide)
3 individuals with biallelic LOF variants reported in large-scale exome sequencing study (PMID: 38693247).Created: 28 May 2024, 3:57 a.m. | Last Modified: 28 May 2024, 3:57 a.m.
Panel Version: 1.194
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 50, autosomal recessive, MIM# 612936
Publications
- PMID: 38693247
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
ID and spastic paraplegia, specifically reported in cerebral palsy-like individuals.Created: 21 Jun 2021, 9:03 a.m. | Last Modified: 21 Jun 2021, 9:03 a.m.
Panel Version: 0.60
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 50, autosomal recessive, MIM# 612936
Publications
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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Neurodegeneration with brain iron accumulation
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Cerebral Palsy
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AP4M1 were set to 19559397; 24065543; 25496299
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap4m1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AP4M1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AP4M1 was added gene: AP4M1 was added to Cerebral Palsy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP4M1 was set to Unknown