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  3. ZPR1
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Growth failure

Gene: ZPR1

Red List (low evidence)
ZPR1 (ZPR1 zinc finger)
EnsemblGeneIds (GRCh38): ENSG00000109917
EnsemblGeneIds (GRCh37): ENSG00000109917
OMIM: 603901, Gene2Phenotype
ZPR1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

3 families reported with growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF). All were Hispanic families from the middle Rio Grande Valley. Homozygous missense identified in one family, p. Ile196Thr. Others unavailable for testing, founder effect postulated.
Created: 6 Aug 2021, 7:57 a.m. | Last Modified: 6 Aug 2021, 7:57 a.m.
Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321

Publications

Created: 6 Aug 2021, 7:57 a.m.
Last Modified: 6 Aug 2021, 7:57 a.m.
Panel version: 0.63

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321
Tags
founder
OMIM
603901
Clinvar variants
Variants in ZPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zpr1 has been classified as Red List (Low Evidence).

6 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZPR1 were changed from ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321

6 Aug 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: ZPR1.

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZPR1 was added gene: ZPR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZPR1 were set to 29851065 Phenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321