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Severe microcephaly

Gene: CTSF

No list

CTSF (cathepsin F)
EnsemblGeneIds (GRCh38): ENSG00000174080
EnsemblGeneIds (GRCh37): ENSG00000174080
OMIM: 603539, Gene2Phenotype
CTSF is in 8 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 23746550
- 4 probands, 2x PTV, 1x missense, 1x 280kb deletion (all de novo)
- OFCs ranges from -0.8 SD (the proband with the deletion) to -3.51 SD

PMID: 30893510
- 3 probands, de novo 2x PTV and 1x missense
- OFCs ranges from < -2 to < -3 SD

PMID: 28619046
- 1x proband with de novo fs
- head circumference was under 10th centle
Sources: Expert list
Created: 4 Sep 2020, 10:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 21 (MIM#615502)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Mental retardation, autosomal dominant 21 (MIM#615502)
OMIM
603539
Clinvar variants
Variants in CTSF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CTSF was added gene: CTSF was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CTSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTSF were set to 23746550; 30893510; 28619046 Phenotypes for gene: CTSF were set to Mental retardation, autosomal dominant 21 (MIM#615502) Review for gene: CTSF was set to GREEN gene: CTSF was marked as current diagnostic