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Severe microcephaly

Gene: UGP2

Green List (high evidence)

UGP2 (UDP-glucose pyrophosphorylase 2)
EnsemblGeneIds (GRCh38): ENSG00000169764
EnsemblGeneIds (GRCh37): ENSG00000169764
OMIM: 191760, Gene2Phenotype
UGP2 is in 3 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, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
Epileptic encephalopathy; intellectual disability; microcephaly

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
  • Developmental and epileptic encephalopathy 83, OMIM:618744
OMIM
191760
Clinvar variants
Variants in UGP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: UGP2.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to UGP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 May 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: UGP2.

19 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ugp2 has been classified as Amber List (Moderate Evidence).

19 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UGP2 were changed from Epileptic encephalopathy; intellectual disability; microcephaly to Developmental and epileptic encephalopathy 83, OMIM:618744

4 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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