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| Congenital fibrosis of the extraocular muscles v2.7 | ZFHX4 |
Ida Ertmanska Tag Q3_26_expert_review was removed from gene: ZFHX4. Tag Q3_26_NHS_review tag was added to gene: ZFHX4. |
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| Congenital fibrosis of the extraocular muscles v2.7 | ZFHX4 |
Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: ZFHX4. Tag Q3_26_promote_green tag was added to gene: ZFHX4. |
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| Congenital fibrosis of the extraocular muscles v2.7 | ZFHX4 | Ida Ertmanska Phenotypes for gene: ZFHX4 were changed from Isolated congenital ptosis to congenital ptosis, MONDO:0008340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v2.6 | ZFHX4 | Ida Ertmanska Publications for gene: ZFHX4 were set to PMID: 41524020; 11935336; 32962661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v2.5 | ZFHX4 | Ida Ertmanska Classified gene: ZFHX4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v2.5 | ZFHX4 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated patients reported in literature with heterozygous ZFHX4 variants and isolated congenital ptosis. Hence, this gene can be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v2.5 | ZFHX4 | Ida Ertmanska Gene: zfhx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v2.4 | ZFHX4 | Ida Ertmanska edited their review of gene: ZFHX4: Changed publications to: 41524020, 32962661, 17987257, 11935336 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v2.4 | ZFHX4 |
Ida Ertmanska changed review comment from: PMID: 41524020 Zhang et al., 2026 Cohort of patients with isolated congenital ptosis. Seq method: WES. Three novel heterozygous variants in ZFHX4, c.5145C>A (p.N1715K), c.10382C>T (p.A3461V), and c.10795G>A (p.A3599T), were identified in three patients of Han Chinese origin. PMID: 32962661 Adhikari et al., 2020 Report of a Nepalese proband with congenital ptosis and a c.12411G>T, p.Leu4137Phe variant in exon 12 of ZFHX4. Same variant reported in a Japanese kindred with hereditary congenital blepharoptosis (PMID: 17987257, Nakashima et al., 2008). This gene is not yet associated with a disease entity in OMIM. ZFHX4 association with AD syndromic complex neurodevelopmental disorder was classified as Strong in ClinGen in December 2025 (Intellectual Disability and Autism GCEP).; to: PMID: 41524020 Zhang et al., 2026 Cohort of patients with isolated congenital ptosis. Seq method: WES. Three novel heterozygous variants in ZFHX4, c.5145C>A (p.N1715K), c.10382C>T (p.A3461V), and c.10795G>A (p.A3599T), were identified in three patients of Han Chinese origin. PMID: 32962661 Adhikari et al., 2020 Report of a Nepalese proband with congenital ptosis and a c.12411G>T, p.Leu4137Phe variant in exon 12 of ZFHX4. Same variant reported in a Japanese kindred with hereditary congenital blepharoptosis (PMID: 17987257, Nakashima et al., 2008). PMID: 11935336 McMullan et al., 2002 Report of a patient with congenital bilateral isolated ptosis and a de novo balanced translocation 46,XY,t(1;8)(p34.3;q21.12). The 1p breakpoint does not disrupt a coding sequence, whereas the chromosome 8 breakpoint disrupts the ZFHX4 gene. This gene is not yet associated with a disease entity in OMIM. ZFHX4 association with AD syndromic complex neurodevelopmental disorder was classified as Strong in ClinGen in December 2025 (Intellectual Disability and Autism GCEP). |
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| Congenital fibrosis of the extraocular muscles v2.4 | ZFHX4 | Ida Ertmanska reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 41524020, 32962661, 17987257; Phenotypes: congenital ptosis, MONDO:0008340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v2.4 | ZFHX4 |
Nicky Cronbach gene: ZFHX4 was added gene: ZFHX4 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFHX4 were set to PMID: 41524020; 11935336; 32962661 Phenotypes for gene: ZFHX4 were set to Isolated congenital ptosis Penetrance for gene: ZFHX4 were set to unknown Review for gene: ZFHX4 was set to GREEN Added comment: Multiple unrelated cases of isolated congenital ptosis reported. Three unrelated Han-Chinese patients (PMID 41524020) and one Nepalese patient (32962661) with missense variants in ZFHX4, and one case (unspecified ethnicity) related to a translocation disrupting ZFHX4. Sources: Literature |
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