Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: HS2ST1
4 individuals from 3 unrelated families reported.
Sources: Expert ReviewCreated: 2 Sep 2021, 3:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
Publications
4 cases with biallelic variants from 3 unrelated families with heparan sulfate 2-O-sulfotransferase 1 deficiency in patient cells.
Sources: NHS GMSCreated: 5 Feb 2021, 2:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism
Publications
- 4 affected from 3 unrelated families
- 3 unique missense and 2 PTCs
- Developmental Delay, Corpus Callosum Hypoplasia or Aplasia, and Skeletal and Renal Abnormalities
Sources: LiteratureCreated: 7 Dec 2020, 4:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene: hs2st1 has been classified as Green List (High Evidence).
Gene: hs2st1 has been classified as Green List (High Evidence).
gene: HS2ST1 was added gene: HS2ST1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Review for gene: HS2ST1 was set to GREEN