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| Structural eye disease v5.14 | ZRSR2 |
Ida Ertmanska changed review comment from: PMID: 38158857 Hannes et al., 2024 Report of 8 boys from 6 unrelated families with Orofaciodigital syndrome from Argentina, Belgium, France, and Spain, including the family (family 4) originally described by PMID: 11003938 (Buño et al., 2000). One individual had holoprosencephaly with no further clinical details availalble. Overlapping phenotype: postaxial polydactyly (7/7), bilateral hallux duplication (5/7), brachydactyly (2/7), clinodactyly (2/7), high narrow palate (5/7), cleft palate (2/7), incisor anomalies (3/5), holoprosencephaly (2/7), micropenis (4/7), seizures (2/7), bilateral cryptorchidism (5/6). Development was normal or mildly delayed. All probands harboured hemizygous ZRSR2 variants: c.1211_1212de, p.(Gly404GlufsTer23) in family 1, and c.1207_1208del, p.(Arg403GlyfsTer24) in the other 5 families. Functional: Primary fibroblasts containing the NM_005089.4:c.1207_1208del ZRSR2 variant had abnormally elongated cilia. PMID: 31680349 Guo et al., 2020 Trio-WES in families with recurrent fetal malformations. Family 28 - 5 affected male fetuses, hemizygous for a ZRSR2 variant c.1207_1208del, p.(Arg403GlyfsTer24) - maternally inherited. Abnormal prenatal findings: congenital hydrocephalus, median cleft lip and palate, abnormal heart morphology, holoprosencephaly. ZRSR2 is associated with XLR Orofaciodigital syndrome XXI, OMIM:30113 in OMIM; the assocation is rated as Moderate in Gene2Phenotype (resources accessed 6th Nov 2026). Sources: Literature; to: PMID: 38158857 Hannes et al., 2024 Report of 8 boys from 6 unrelated families with Orofaciodigital syndrome from Argentina, Belgium, France, and Spain, including the family (family 4) originally described by PMID: 11003938 (Buño et al., 2000). One individual had holoprosencephaly with no further clinical details availalble. Overlapping phenotype: postaxial polydactyly (7/7), bilateral hallux duplication (5/7), brachydactyly (2/7), clinodactyly (2/7), high narrow palate (5/7), cleft palate (2/7), incisor anomalies (3/5), holoprosencephaly (2/7), microphthalmia (2/7, one with additional finding of optic disc coloboma), micropenis (4/7), seizures (2/7), bilateral cryptorchidism (5/6). Development was normal or mildly delayed. All probands harboured hemizygous ZRSR2 variants: c.1211_1212de, p.(Gly404GlufsTer23) in family 1, and c.1207_1208del, p.(Arg403GlyfsTer24) in the other 5 families. Functional: Primary fibroblasts containing the NM_005089.4:c.1207_1208del ZRSR2 variant had abnormally elongated cilia. PMID: 31680349 Guo et al., 2020 Trio-WES in families with recurrent fetal malformations. Family 28 - 5 affected male fetuses, hemizygous for a ZRSR2 variant c.1207_1208del, p.(Arg403GlyfsTer24) - maternally inherited. Abnormal prenatal findings: congenital hydrocephalus, median cleft lip and palate, abnormal heart morphology, holoprosencephaly. ZRSR2 is associated with XLR Orofaciodigital syndrome XXI, OMIM:30113 in OMIM; the assocation is rated as Moderate in Gene2Phenotype (resources accessed 6th Nov 2026). Sources: Literature |
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| Structural eye disease v5.14 | ZRSR2 | Ida Ertmanska Classified gene: ZRSR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.14 | ZRSR2 | Ida Ertmanska Added comment: Comment on list classification: There are 2 male individuals reported in literature with hemizygous ZRSR2 variants and a syndromic presentation including microphthalmia and optic disc coloboma. Hence, this gene can only be rated Amber on Structural eye disease, based on the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.14 | ZRSR2 | Ida Ertmanska Gene: zrsr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v5.13 | ZRSR2 |
Ida Ertmanska gene: ZRSR2 was added gene: ZRSR2 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZRSR2 were set to 11003938; 31680349; 38158857 Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, OMIM:301132; orofaciodigital syndrome, MONDO:0015375; microphthalmia, MONDO:0021129 Review for gene: ZRSR2 was set to AMBER Added comment: PMID: 38158857 Hannes et al., 2024 Report of 8 boys from 6 unrelated families with Orofaciodigital syndrome from Argentina, Belgium, France, and Spain, including the family (family 4) originally described by PMID: 11003938 (Buño et al., 2000). One individual had holoprosencephaly with no further clinical details availalble. Overlapping phenotype: postaxial polydactyly (7/7), bilateral hallux duplication (5/7), brachydactyly (2/7), clinodactyly (2/7), high narrow palate (5/7), cleft palate (2/7), incisor anomalies (3/5), holoprosencephaly (2/7), micropenis (4/7), seizures (2/7), bilateral cryptorchidism (5/6). Development was normal or mildly delayed. All probands harboured hemizygous ZRSR2 variants: c.1211_1212de, p.(Gly404GlufsTer23) in family 1, and c.1207_1208del, p.(Arg403GlyfsTer24) in the other 5 families. Functional: Primary fibroblasts containing the NM_005089.4:c.1207_1208del ZRSR2 variant had abnormally elongated cilia. PMID: 31680349 Guo et al., 2020 Trio-WES in families with recurrent fetal malformations. Family 28 - 5 affected male fetuses, hemizygous for a ZRSR2 variant c.1207_1208del, p.(Arg403GlyfsTer24) - maternally inherited. Abnormal prenatal findings: congenital hydrocephalus, median cleft lip and palate, abnormal heart morphology, holoprosencephaly. ZRSR2 is associated with XLR Orofaciodigital syndrome XXI, OMIM:30113 in OMIM; the assocation is rated as Moderate in Gene2Phenotype (resources accessed 6th Nov 2026). Sources: Literature |
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