CREB3L4

cAMP responsive element binding protein 3 like 4
OMIM: 607138, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CREB3L4 in Mendeliome


Version 2.145

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Isolated congenital growth hormone deficiency, MONDO:0000050

Red CREB3L4 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.15

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Isolated congenital growth hormone deficiency, MONDO:0000050

Red CREB3L4 in Growth failure


Version 2.3

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Isolated congenital growth hormone deficiency, MONDO:0000050