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Monogenic hearing loss

Gene: ZPR1

Red List (low evidence)

ZPR1 (ZPR1 zinc finger)
EnsemblGeneIds (GRCh38): ENSG00000109917
EnsemblGeneIds (GRCh37): ENSG00000109917
OMIM: 603901, Gene2Phenotype
ZPR1 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 16 Jun 2021, 2:50 p.m. | Last Modified: 16 Jun 2021, 2:50 p.m.
Panel Version: 1.70
Comment on publications: PMID: 29851065. 4 affected individuals from 3 families of New Mexican Hispanic heritage, residing in the middle Rio Grande Valley. 3/4 died at ages 12-33 months. 2/4 severe microcephaly at birth (<-3SD, other 2 have moderate microcephaly -2SD), 4/4 severe microcephaly postnatal (-4SD to -6.5 SD), 4/4 growth restriction, 4/4 alopecia, 4/4 hypopigmented porcelain-like skin at birth, 4/4 hypoplastic kidneys, 3/4 optic atrophy, 1/4 retinal dystrophy and night blindness, 4/4 distinctive facial features, 4/4 congenital sensorineural hearing loss, 4/4 joint contractures or congenital hip dislocation, 1/4 diabetes (1 other patient has sparse hypotrophic islets of Langerhans), 3/4 acquired increased adiposity, 3/3 hydrocephalus.
Created: 16 Jun 2021, 2:48 p.m. | Last Modified: 16 Jun 2021, 2:48 p.m.
Panel Version: 1.69

Zornitza Stark (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.
Sources: Literature
Created: 11 Jun 2021, 8:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Tags
founder-effect
OMIM
603901
Clinvar variants
Variants in ZPR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jun 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ZPR1 was added gene: ZPR1 was added to Hearing loss. Sources: Literature,Expert Review Red founder-effect tags were added to gene: ZPR1. 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