FTSJ1

FtsJ RNA methyltransferase homolog 1
OMIM: 300499, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FTSJ1 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 9 MIM#309549

Green FTSJ1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked 9, MIM# 309549
  • X-linked complex neurodevelopmental disorder MONDO:0100148

Green FTSJ1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 9, 309549 (3)

Red FTSJ1 in Fetal anomalies


Version 1.314

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Intellectual developmental disorder, X-linked 9, MIM# 309549

Green FTSJ1 in Prepair 1000+


Level 2: Screening
Version 1.1586

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 9, 309549 (3)

Green FTSJ1 in Prepair 500+


Level 2: Screening
Version 1.5

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 9, 309549 (3)