Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.15 | ZRSR2 | Ida Ertmanska Classified gene: ZRSR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.15 | ZRSR2 | Ida Ertmanska Gene: zrsr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.14 | ZRSR2 | Ida Ertmanska Classified gene: ZRSR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.14 | ZRSR2 | Ida Ertmanska Added comment: Comment on list classification: There are 6 unrelated male probands reported in literature with hemizygous ZRSR2 variants and a limb disorders, including postaxial polydactyly (most consistent feature), as well as clinodactyly, brachydactyly, and hallux duplication. Based on available evidence, this gene can be promoted to Green on Limb disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.14 | ZRSR2 | Ida Ertmanska Gene: zrsr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.13 | 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). Overlapping phenotype of oral, facial, digital, and brain anomalies. 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.; 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), 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.13 | ZRSR2 |
Ida Ertmanska commented on gene: ZRSR2: 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). Overlapping phenotype of oral, facial, digital, and brain anomalies. 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.13 | ZRSR2 | Ida Ertmanska Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v9.13 | ZRSR2 |
Ida Ertmanska gene: ZRSR2 was added gene: ZRSR2 was added to Limb disorders. Sources: Literature Q4_26_promote_green tags were added to gene: ZRSR2. 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 Review for gene: ZRSR2 was set to GREEN 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). Overlapping phenotype of oral, facial, digital, and brain anomalies. 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. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||