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| Severe microcephaly v2.136 | CTCF |
Ivone Leong gene: CTCF was added gene: CTCF was added to Severe microcephaly. Sources: Expert list Q2_21_rating tags were added to gene: CTCF. Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTCF were set to 23746550; 30893510; 28619046 Phenotypes for gene: CTCF were set to Mental retardation, autosomal dominant 21, OMIM:615502 Review for gene: CTCF was set to GREEN Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. New gene added by Zornitza Stark (however, it was added under the gene symbol CTSF but should be CTCF) with the following review: "Recommended gene rating: Green 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 23746550 30893510 28619046 Variants in this GENE are reported as part of current diagnostic practice Created: 4 Sep 2020, 10:18 a.m." There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. Sources: Expert list |
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| Severe microcephaly v2.135 | CTSF | Ivone Leong edited their review of gene: CTSF: Added comment: This gene has been tagged with "curated_removed" as it should be CTCF not CTSF gene added to this panel.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.135 | CTSF | Ivone Leong Tag curated_removed tag was added to gene: CTSF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.135 | CTSF | Ivone Leong changed review comment from: Comment on phenotypes: CTSF is no longer associated with Mental retardation, autosomal dominant 21, OMIM:615502 on OMIM.; to: Comment on phenotypes: CTSF is not associated with Mental retardation, autosomal dominant 21, OMIM:615502 on OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.135 | CTSF | Ivone Leong Added comment: Comment on phenotypes: CTSF is no longer associated with Mental retardation, autosomal dominant 21, OMIM:615502 on OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.135 | CTSF | Ivone Leong Phenotypes for gene: CTSF were changed from Mental retardation, autosomal dominant 21, OMIM:615502 to Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.134 | CTSF | Ivone Leong Phenotypes for gene: CTSF were changed from Mental retardation, autosomal dominant 21 (MIM#615502) to Mental retardation, autosomal dominant 21, OMIM:615502 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | CTSF |
Zornitza Stark 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 Added comment: 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 |
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