Childhood onset hereditary spastic paraplegia
Gene: AP4B1EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 10 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood onset only; small number of patients. Associated with severe mental retardation.Created: 3 May 2019, 4:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Victoria: neonatal onset. Neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development, some dysmorphic features. MRI: thin corpus callosum, white matter abnormality.. Several oublications. In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, 614066
Arianna Tucci (Genomics England Curator)
Autosomal recessive Spastic paraplegia 47: onset at birthCreated: 14 Jan 2019, 4:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 47, autosomal recessive, OMIM:614066
- Hereditary spastic paraplegia 47, MONDO:0013551
- OMIM
- 607245
- Clinvar variants
- Variants in AP4B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: AP4B1 were set to 21620353
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to AP4B1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to AP4B1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to AP4B1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Autosomal recessive Spastic pa
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive to Spastic paraplegia 47, autosomal recessive, 614066
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: AP4B1 was added gene: AP4B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive