| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.123 | EXTL3 |
Achchuthan Shanmugasundram changed review comment from: A recessive variant in EXTL3 (c.2392G>A; p.Val798Met) was identified in a patient with metopic craniosynostosis, intellectual disability, short stature, microcephaly, hip dysplasia, kyphosis, delayed skeletal age and immunodeficiency. The variant is absent from gnomAD and affects the glycosyl transferase family 64 domain (PMID:35080095). Craniosynostosis has been recorded as part of the phenotype in OMIM (MIM #617425) Sources: Literature; to: A recessive variant in EXTL3 (c.2392G>A; p.Val798Met) was identified in a patient with metopic craniosynostosis, intellectual disability, short stature, microcephaly, hip dysplasia, kyphosis, delayed skeletal age and immunodeficiency. The variant is absent from gnomAD and affects the glycosyl transferase family 64 domain (PMID:35080095). Craniosynostosis has been recorded as part of the phenotype in OMIM (MIM #617425). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.123 | EXTL3 |
Achchuthan Shanmugasundram changed review comment from: A recessive variant in EXTL3 (c.2392G>A; p.Val798Met) was identified in a patient with metopic craniosynostosis, intellectual disability, short stature, microcephaly, hip dysplasia, kyphosis, delayed skeletal age and immunodeficiency. The variant is absent from gnomAD and affects the glycosyl transferase family 64 domain (PMID:35080095). Sources: Literature; to: A recessive variant in EXTL3 (c.2392G>A; p.Val798Met) was identified in a patient with metopic craniosynostosis, intellectual disability, short stature, microcephaly, hip dysplasia, kyphosis, delayed skeletal age and immunodeficiency. The variant is absent from gnomAD and affects the glycosyl transferase family 64 domain (PMID:35080095). Craniosynostosis has been recorded as part of the phenotype in OMIM (MIM #617425) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.123 | EXTL3 | Achchuthan Shanmugasundram edited their review of gene: EXTL3: Changed phenotypes to: Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.123 | EXTL3 | Achchuthan Shanmugasundram Phenotypes for gene: EXTL3 were changed from craniosynostosis, MONDO:0015469 to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.122 | EXTL3 |
Achchuthan Shanmugasundram gene: EXTL3 was added gene: EXTL3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXTL3 were set to 35080095; 36980886 Phenotypes for gene: EXTL3 were set to craniosynostosis, MONDO:0015469 Review for gene: EXTL3 was set to RED Added comment: A recessive variant in EXTL3 (c.2392G>A; p.Val798Met) was identified in a patient with metopic craniosynostosis, intellectual disability, short stature, microcephaly, hip dysplasia, kyphosis, delayed skeletal age and immunodeficiency. The variant is absent from gnomAD and affects the glycosyl transferase family 64 domain (PMID:35080095). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||