Severe microcephalyGene: AP4E1
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
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 list
Created: 30 Aug 2020, 5:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 51, autosomal recessive, MIM# 613744
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992
Tag for-review tag was added to gene: AP4E1.
Gene: ap4e1 has been classified as Amber List (Moderate Evidence).
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
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