Severe microcephalyGene: UGP2
Comment on list classification: Gene added to panel and rated Green by Zornitza Stark. Sufficient evidence and appropriate phenotype (progressive microcephaly seen in all patients with available data) for inclusion on panel: 22 patients from 15 families all with the same variant identified in PMID:31820119. Therefore there is sufficient evidence to rate this gene as Green at the next GMS panel update.
Created: 19 May 2021, 12:28 p.m. | Last Modified: 19 May 2021, 12:28 p.m.
Panel Version: 2.165
22 individuals from 15 families reported with the same homozygous missense variant in this gene, chr2:64083454A > G, which causes a disruption of the start codon in the shorter isoform, which is expressed in brain.
Sources: Expert list
Created: 4 Sep 2020, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epileptic encephalopathy; intellectual disability; microcephaly
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating tag was added to gene: UGP2.
Gene: ugp2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: UGP2 were changed from Epileptic encephalopathy; intellectual disability; microcephaly to Developmental and epileptic encephalopathy 83, OMIM:618744
gene: UGP2 was added gene: UGP2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGP2 were set to 31820119 Phenotypes for gene: UGP2 were set to Epileptic encephalopathy; intellectual disability; microcephaly Review for gene: UGP2 was set to GREEN gene: UGP2 was marked as current diagnostic