Skeletal dysplasia

Gene: NEK8

Green List (high evidence)

ESHG 2022: 12 families with paediatric renal cystic disease (enlarged kidneys, kidney cysts, ESKF <20yrs) -3 recurrent HTZ variants in NEK8 kinase domain (Arg45Trp, Ile150Met, Lys157Gln) -suspected dominant negative effect -patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8 (Note carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF)

Created: 13 Jul 2022, 6:56 a.m. | Last Modified: 13 Jul 2022, 6:56 a.m.

Panel Version: 1.96

More than 10 unrelated families reported with a multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus.

Created: 4 Jul 2021, 9:39 a.m. | Last Modified: 4 Jul 2021, 9:39 a.m.

Panel Version: 0.8198

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174; Familial renal cystic disease MONDO:0019741, NEK8-related, dominant

Publications

• 33131162
• 23418306
• 26862157
• 26697755
• 26967905
• 23274954
• 31633649