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Fetal anomalies

Gene: GTPBP2

Green List (high evidence)

GTPBP2 (GTP binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172432
EnsemblGeneIds (GRCh37): ENSG00000172432
OMIM: 607434, Gene2Phenotype
GTPBP2 is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Nine individuals from six unrelated families

microcephaly noted but measurements at birth not provided.
1x weight 5th percentile and OFC 25-50 percentile

scoliosis consistently reported
Other features include clenched hands, talipes, abnormal brain imaging, pectus excavatum
Sources: Literature
Created: 28 Feb 2022, 5:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jaberi-Elahi syndrome MIM#617988

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
  • Literature
Phenotypes
  • Jaberi-Elahi syndrome MIM#617988
OMIM
607434
Clinvar variants
Variants in GTPBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtpbp2 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gtpbp2 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: GTPBP2 was added gene: GTPBP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272 Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome MIM#617988 Review for gene: GTPBP2 was set to GREEN gene: GTPBP2 was marked as current diagnostic