NHERF1

NHERF family PDZ scaffold protein 1
OMIM: 604990, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red NHERF1 in Hypercalcaemia


Level 2: Endocrine disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287

Red NHERF1 in Hypophosphataemia or rickets


Level 2: Endocrine disorders; Skeletal disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • KidGen_CalcPhos v38.1.0
  • Expert Review Red
  • Expert Review Red
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287

Red NHERF1 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Tags
  • refuted

Red NHERF1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2

Red NHERF1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2

Red NHERF1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Tags
  • refuted