Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.33 | RSPO2 | Achchuthan Shanmugasundram Classified gene: RSPO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.33 | RSPO2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported with biallelic RSPO2 variants and with Tetraamelia syndrome or humerofemoral hypoplasia with radiotibial ray deficiency. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.33 | RSPO2 | Achchuthan Shanmugasundram Gene: rspo2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.32 | RSPO2 |
Achchuthan Shanmugasundram changed review comment from: PMID:29769720 (2018) reported eleven affected individuals from five different families displaying severe developmental limb defects. Four affected foetuses from a consanguineous Turkish family (family 1) presented with radial ray deficiency with humeral involvement, absence of tibiae with or without femoral deficiency, and absence of digits on the preaxial side. The seven affected foetuses from four other families (families 2-5) presented with complete absence of four limbs, lung hypo/aplasia, cleft lip/ palate and labioscrotal fold aplasia, all characteristic of Tetraamelia syndrome (TETAMS). The family with humerofemoral hypoplasia with radiotibial ray deficiency (family 1) was identified with homozygous RSPO2 missense variant (p.Arg64Cys), while the families with Tetraamelia syndrome were identified with homozygous RSPO2 nonsense variants (p.Gln70Ter in family 2 and p.Glu137Ter in family 4), homozygous RSPO2 frmeshift variant (p.Gly42val fs*49 in family 5) or biallelic 154kb deletion spanning intron 5 and exon 6 of RSPO2 (family 3). There is also animal models and functional evidence available from PMIDs 29769720 & 32457899. This gene has already been associated with relevant phenotypes in OMIM (MIMs #618021 & 618022) and Gene2Phenotype (with 'strong' rating on the DD panel), and these records were last accessed on 03 November 2026. Sources: Literature; to: PMID:29769720 (2018) reported eleven affected individuals from five different families displaying severe developmental limb defects. Four affected foetuses from a consanguineous Turkish family (family 1) presented with radial ray deficiency with humeral involvement, absence of tibiae with or without femoral deficiency, and absence of digits on the preaxial side. The seven affected foetuses from four other families (families 2-5) presented with complete absence of four limbs, lung hypo/aplasia, cleft lip/ palate and labioscrotal fold aplasia, all characteristic of Tetraamelia syndrome (TETAMS). The family with humerofemoral hypoplasia with radiotibial ray deficiency (family 1) was identified with homozygous RSPO2 missense variant (p.Arg64Cys), while the families with Tetraamelia syndrome were identified with homozygous RSPO2 nonsense variants (p.Gln70Ter in family 2 and p.Glu137Ter in family 4), homozygous RSPO2 frmeshift variant (p.Gly42val fs*49 in family 5) or biallelic 154kb deletion spanning intron 5 and exon 6 of RSPO2 (family 3). There is also animal models and functional evidence available from PMIDs 29769720 & 32457899. This gene has already been associated with relevant phenotypes in OMIM (MIMs #618021 & #618022) and Gene2Phenotype (with 'strong' rating on the DD panel), and these records were last accessed on 03 November 2026. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.32 | RSPO2 | Achchuthan Shanmugasundram Tag Q4_26_promote_green tag was added to gene: RSPO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.32 | RSPO2 |
Achchuthan Shanmugasundram changed review comment from: PMID:29769720 (2018) reported eleven affected individuals from five different families displaying severe developmental limb defects. Four affected foetuses from a consanguineous Turkish family (family 1) presented with radial ray deficiency with humeral involvement, absence of tibiae with or without femoral deficiency, and absence of digits on the preaxial side. The seven affected foetuses from four other families (families 2-5) presented with complete absence of four limbs, lung hypo/aplasia, cleft lip/ palate and labioscrotal fold aplasia, all characteristic of Tetraamelia syndrome (TETAMS). The family with humerofemoral hypoplasia with radiotibial ray deficiency (family 1) was identified with homozygous RSPO2 missense variant (p.Arg64Cys), while the families with Tetraamelia syndrome were identified with homozygous RSPO2 nonsense variants (p.Gln70Ter in family 2 and p.Glu137Ter in family 4), homozygous RSPO2 frmeshift variant (p.Gly42val fs*49 in family 5) or biallelic 154kb deletion spanning intron 5 and exon 6 of RSPO2 (family 3). There is also animal models and functional evidence available from PMIDs 29769720 & 32457899. This gene has already been associated with relevant phenotypes in OMIM (MIMs #618021 & 618022) and Gene2Phenotype (with 'strong' rating on the DD panel), and these records were last accessed on 03 November 2026. Sources: Literature; to: PMID:29769720 (2018) reported eleven affected individuals from five different families displaying severe developmental limb defects. Four affected foetuses from a consanguineous Turkish family (family 1) presented with radial ray deficiency with humeral involvement, absence of tibiae with or without femoral deficiency, and absence of digits on the preaxial side. The seven affected foetuses from four other families (families 2-5) presented with complete absence of four limbs, lung hypo/aplasia, cleft lip/ palate and labioscrotal fold aplasia, all characteristic of Tetraamelia syndrome (TETAMS). The family with humerofemoral hypoplasia with radiotibial ray deficiency (family 1) was identified with homozygous RSPO2 missense variant (p.Arg64Cys), while the families with Tetraamelia syndrome were identified with homozygous RSPO2 nonsense variants (p.Gln70Ter in family 2 and p.Glu137Ter in family 4), homozygous RSPO2 frmeshift variant (p.Gly42val fs*49 in family 5) or biallelic 154kb deletion spanning intron 5 and exon 6 of RSPO2 (family 3). There is also animal models and functional evidence available from PMIDs 29769720 & 32457899. This gene has already been associated with relevant phenotypes in OMIM (MIMs #618021 & 618022) and Gene2Phenotype (with 'strong' rating on the DD panel), and these records were last accessed on 03 November 2026. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.32 | RSPO2 |
Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: PMID:29769720 (2018) reported eleven affected individuals from five different families displaying severe developmental limb defects. Four affected foetuses from a consanguineous Turkish family (family 1) presented with radial ray deficiency with humeral involvement, absence of tibiae with or without femoral deficiency, and absence of digits on the preaxial side. The seven affected foetuses from four other families (families 2-5) presented with complete absence of four limbs, lung hypo/aplasia, cleft lip/ palate and labioscrotal fold aplasia, all characteristic of Tetraamelia syndrome (TETAMS). The family with humerofemoral hypoplasia with radiotibial ray deficiency (family 1) was identified with homozygous RSPO2 missense variant (p.Arg64Cys), while the families with Tetraamelia syndrome were identified with homozygous RSPO2 nonsense variants (p.Gln70Ter in family 2 and p.Glu137Ter in family 4), homozygous RSPO2 frmeshift variant (p.Gly42val fs*49 in family 5) or biallelic 154kb deletion spanning intron 5 and exon 6 of RSPO2 (family 3). There is also animal models and functional evidence available from PMIDs 29769720 & 32457899. This gene has already been associated with relevant phenotypes in OMIM (MIMs #618021 & 618022) and Gene2Phenotype (with 'strong' rating on the DD panel), and these records were last accessed on 03 November 2026. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.29 | RSPO2 |
Achchuthan Shanmugasundram gene: RSPO2 was added gene: RSPO2 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPO2 were set to 29769720; 32457899 Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, OMIM:618021; tetraamelia syndrome 2, MONDO:0060732; ?Humerofemoral hypoplasia with radiotibial ray deficiency, OMIM:618022; humerofemoral hypoplasia with radiotibial ray deficiency, MONDO:0060733 Review for gene: RSPO2 was set to GREEN Added comment: Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||