Severe microcephaly
Gene: AP4E1EnsemblGeneIds (GRCh38): ENSG00000081014
EnsemblGeneIds (GRCh37): ENSG00000081014
OMIM: 607244, Gene2Phenotype
AP4E1 is in 8 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.
Panel Version: 2.282
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. Rating Amber with recommendation of review by the GMS team to assess whether there is sufficient evidence to support a Green rating (added 'for-review' tag)
At least 21 individuals from 11 unrelated families reported in literature with variants in this gene (PMID: 32979048). Microcephaly was observed in 14/16 cases but precise details regarding head circumference were mostly omitted (no relevant info was provided for the remaining 5 patients). However, at least 5 individuals (2 families) had microcephaly of relevant severity to this panel (OFC ≤ -3 SD) (see PMIDs: 21620353 and 20972249).Created: 5 Jan 2021, 5:24 p.m. | Last Modified: 27 Jan 2021, 3:33 p.m.
Panel Version: 2.87
Zornitza Stark (Australian Genomics)
Autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. Microcephaly is a prominent, presenting feature. At least 3 families reported.
Sources: Expert listCreated: 30 Aug 2020, 5:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, MIM# 613744
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 51, autosomal recessive, OMIM:613744
- Hereditary spastic paraplegia 51, MONDO:0013401
- OMIM
- 607244
- Clinvar variants
- Variants in AP4E1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: AP4E1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to AP4E1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: AP4E1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ap4e1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, MIM# 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: AP4E1 was added gene: AP4E1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 Review for gene: AP4E1 was set to GREEN gene: AP4E1 was marked as current diagnostic