Severe microcephaly
Gene: CTSF
This gene has been tagged with "curated_removed" as it should be CTCF not CTSF gene added to this panel.Created: 6 May 2021, 8:44 a.m. | Last Modified: 6 May 2021, 8:44 a.m.
Panel Version: 2.135
Comment on phenotypes: CTSF is not associated with Mental retardation, autosomal dominant 21, OMIM:615502 on OMIM.Created: 6 May 2021, 7:50 a.m. | Last Modified: 6 May 2021, 7:56 a.m.
Panel Version: 2.135
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 listCreated: 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
Tag curated_removed tag was added to gene: CTSF.
Phenotypes for gene: CTSF were changed from Mental retardation, autosomal dominant 21, OMIM:615502 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
Phenotypes for gene: CTSF were changed from Mental retardation, autosomal dominant 21 (MIM#615502) to Mental retardation, autosomal dominant 21, OMIM:615502
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