LARP7

La ribonucleoprotein domain family member 7
OMIM: 612026, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green LARP7 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031

Green LARP7 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031

Green LARP7 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031

Green LARP7 in Microcephalic Primordial Dwarfism and Slender bone dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031

Green LARP7 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alazami syndrome, 615071 (3)

Green LARP7 in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031

Green LARP7 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Alazami syndrome, MIM# 615071
  • Microcephalic primordial dwarfism, Alazami type MONDO:0014031

Green LARP7 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alazami syndrome, 615071 (3)