Severe microcephaly
Gene: UNC80EnsemblGeneIds (GRCh38): ENSG00000144406
EnsemblGeneIds (GRCh37): ENSG00000144406
OMIM: 612636, Gene2Phenotype
UNC80 is in 5 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. Variable degrees reported but there are enough unrelated cases (>3) with sufficiently severe microcephaly and distinct UNC80 variants to rate as Green on this panel.Created: 19 May 2021, 12:45 p.m. | Last Modified: 19 May 2021, 12:45 p.m.
Panel Version: 2.167
Zornitza Stark (Australian Genomics)
Summary: Many patients reported as microcephalic. Not all have head circumference < -3SD but there are at least 3 unrelated individuals reported with head circumference smaller than this.
PMID 26708751: 4 individuals from 3 families reported. At 4 years one had OFC -4SD (the others 2nd centile at 4yo, 3rd centile at 15yo, and 10th centile at 9yo).
PMID 26708753: Two 'not directly related' families F1 and F2 identified with the same variant. A third and fourth family had different variants. All affected individuals described were microcephalic (F1: -3.2SD at 4yo; F2: -4SD at 2yo and -2.9SD at 13mo; F3: -2.4SD at 7yo; F4: 9th centile at 4yo and 5th centile at 8yo).
PMID 26545877: 7 affected individuals from 2 distantly related families with the same nonsense variant were all microcephalic (<2nd centile).
PMID 29572195: 2 unrelated individuals reported. Head circumference of patient 1 was -0.5SD at 9yo; Patient 2 -3.7SD at 3yo.
Sources: Expert listCreated: 4 Sep 2020, 10:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801
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
-
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
- OMIM
- 612636
- Clinvar variants
- Variants in UNC80
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: UNC80.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to UNC80. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: UNC80.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: unc80 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: UNC80 were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: UNC80 was added gene: UNC80 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC80 were set to 26708751; 26708753; 26545877; 29572195 Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801 Review for gene: UNC80 was set to GREEN gene: UNC80 was marked as current diagnostic