FTSJ1

FtsJ RNA methyltransferase homolog 1
OMIM: 300499, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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)