White matter disorders and cerebral calcification - narrow panel
Gene: AP4B1EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 10 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 9 Mar 2022, 4:29 p.m. | Last Modified: 9 Mar 2022, 4:29 p.m.
Panel Version: 1.223
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag).
Literature search revealed at least 24 unrelated published families with biallelic variants in this gene. Disorder mainly characterised by HSP but white matter loss is reported in over half of patients (see Publications list)Created: 5 Jan 2021, 2:43 p.m. | Last Modified: 5 Jan 2021, 2:43 p.m.
Panel Version: 1.28
Zornitza Stark (Australian Genomics)
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 in childhood.
Sources: Expert listCreated: 15 Sep 2020, 9:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive MIM#614066
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: AP4B1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to AP4B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: AP4B1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive MIM#614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: AP4B1 were set to 29193663
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ap4b1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: AP4B1 was added gene: AP4B1 was added to White matter disorders and cerebral calcification - narrow panel. 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 gene: AP4B1 was marked as current diagnostic