Genomics England

solute carrier family 34 member 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile hypercalcemia-2, OMIM:616963
Green in Hypophosphataemia or rickets R-numbers: R154 Signed-off version 3.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 4.19	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286, Hypophosphatemic Nephrolithiasis/Osteoporosis, Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive), Nephrolithiasis with osteoporosis and hypophosphatemia, Nephrolithiasis with osteoporosis and hypophosphatemia
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286