Neurodegeneration with brain iron accumulation
Gene: AP1S2EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Iron deposition in the basal ganglia is reported in some individuals but is not a consistent feature.Created: 10 Jul 2023, 10:12 a.m. | Last Modified: 10 Jul 2023, 10:12 a.m.
Panel Version: 0.22
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pettigrew syndrome, MIM# 304340
Publications
Shekeeb Mohammad (Children's Hospital at Westmead)
Sources: Expert list, LiteratureCreated: 20 Jun 2023, 12:56 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Pettigrew syndrome, MIM# 304340
- OMIM
- 300629
- Clinvar variants
- Variants in AP1S2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap1s2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AP1S2 were changed from spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition to Pettigrew syndrome, MIM# 304340
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap1s2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Shekeeb Mohammad (Children's Hospital at Westmead)gene: AP1S2 was added gene: AP1S2 was added to Neuroferritinopathies. Sources: Expert list,Literature Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AP1S2 were set to 23756445 Phenotypes for gene: AP1S2 were set to spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition Penetrance for gene: AP1S2 were set to Complete Review for gene: AP1S2 was set to GREEN