Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: LRP4

Green List (high evidence)

Association of bi-allelic variants with myasthenia: Two unrelated families and a mouse model.

Mono-allelic variants: Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa. Individuals with bi-allelic variants more severely affected.

Single individual reported with bi-allelic variants and syndactyly.

Created: 22 Nov 2021, 7:28 a.m. | Last Modified: 22 Nov 2021, 7:28 a.m.

Panel Version: 0.9824

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 17, MIM# 616304; Sclerosteosis 2, MIM# 614305; Syndactyly

Publications

• 24234652
• 26052878
• 24200689
• 21471202
• 32286743
• 28477420
• 26751728
• 29524275

Green List (high evidence)

Biallelic variants in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by congenital limb malformations, renal abnormalities and craniofacial dysmorphism. More than 10 families reported.

Created: 22 Nov 2021, 1:41 a.m. | Last Modified: 22 Nov 2021, 1:41 a.m.

Panel Version: 0.9782

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cenani-Lenz syndactyly syndrome (MIM#212780)

Publications

• 23636941
• 23664847
• 30041615
• 20381006