Leukodystrophy - paediatric
Gene: AP4B1EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White matter changes have been reported as a feature of the condition in at least ten unrelated cases with biallelic variants. The onset of the condition is paediatric.
Sources: Expert listCreated: 16 Jun 2020, 10:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive MIM#614066
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spastic paraplegia 47, autosomal recessive MIM#614066
- OMIM
- 607245
- Clinvar variants
- Variants in AP4B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ap4b1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ap4b1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AP4B1 was added gene: AP4B1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 29193663 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive MIM#614066 Review for gene: AP4B1 was set to GREEN