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Intellectual disability syndromic and non-syndromic

Gene: FTSJ1

Green List (high evidence)

FTSJ1 (FtsJ RNA methyltransferase homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000068438
EnsemblGeneIds (GRCh37): ENSG00000068438
OMIM: 300499, Gene2Phenotype
FTSJ1 is in 6 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen ID and Autism GCEP on 01/02/2023 - https://search.clinicalgenome.org/CCID:004892

Well reported gene-disease association. Affected males exhibit mild to moderate ID while female carriers are unaffected.
Created: 14 May 2024, 4:21 a.m. | Last Modified: 14 May 2024, 4:21 a.m.
Panel Version: 0.5821

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
X-linked complex neurodevelopmental disorder MONDO:0100148

Publications

  • https://search.clinicalgenome.org/CCID:004892

Details

Mode of Inheritance
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
OMIM
300499
Clinvar variants
Variants in FTSJ1
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:004892
Panels with this gene

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ftsj1 has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FTSJ1 were changed from Intellectual developmental disorder, X-linked 9, MIM# 309549 to Intellectual developmental disorder, X-linked 9, MIM# 309549; X-linked complex neurodevelopmental disorder MONDO:0100148

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FTSJ1 were changed from to Intellectual developmental disorder, X-linked 9, MIM# 309549

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FTSJ1 were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FTSJ1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FTSJ1 was added gene: FTSJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FTSJ1 was set to Unknown