Retinal disordersGene: ZPR1
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
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: 11 Jun 2021, 8:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321
gene: ZPR1 was added gene: ZPR1 was added to Retinal disorders. Sources: Expert Review Red,Literature 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