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| Skeletal dysplasia v10.24 | LAMA5 | Ida Ertmanska changed review comment from: Comment on list classification: There is currently only 1 family reported in literature where probands with biallelic LAMA5 variants presented with Bent bone dysplasia syndrome. Other probands reported in literature have nephrotic syndrome and no skeletal dysplasia. Hence, this gene should remain Red on Skeletal dysplasia.; to: Comment on list classification: There is currently only 1 family reported in literature where individuals with biallelic LAMA5 variants presented with Bent bone dysplasia syndrome. Other probands reported in literature have nephrotic syndrome and no skeletal dysplasia. Hence, this gene should remain Red on Skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.24 | LAMA5 | Ida Ertmanska commented on gene: LAMA5: Comment on list classification: There is currently only 1 family reported in literature where probands with biallelic LAMA5 variants presented with Bent bone dysplasia syndrome. Other probands reported in literature have nephrotic syndrome and no skeletal dysplasia. Hence, this gene should remain Red on Skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.24 | LAMA5 |
Ida Ertmanska changed review comment from: PMID: 33242826 Barad et al., 2020 Study identified three siblings from a single nonconsanguineous family with 'bent bone dysplasia'. Clinical findings included atrial septal defects, relative macrocephaly, micrognathia, proptosis, ear abnormalities, widely spaced nipples, elbow dislocations, and severe distal limb contractures. Significant polyhydramnios detected prenatally. Radiographic findings included distinctly bent, under-mineralized long bones, platyspondyly, hypoplastic acetabular roofs. All three affected individuals died shortly after birth. WES of the family revealed comp het LAMA5 variant c.4213G>A, p.Ala1405Thr & c.6157C>T, p.Arg2053Cys in afffected individuals. Parents and an unaffected sibling were het for one of the LAMA5 variants. The p.Ala1405Thr variant is found at a relatively high frequency in gnomAD v4.1.2 (MAF = 0.003101 in Admixed American pop), though no homozygotes have been reported. The REVEL score is also low for this variant (Benign (Moderate) (0.08)). Variant p.Arg2053Cys has a REVEL score of Uncertain (0.29), and MAF = 0.001837 in gnomAD (South Asian pop); 3 homozygous individuals reported. LAMA5 association with AR LAMA5-related multisystemic syndrome has been classified as Definitive in ClinGen (Glomerulopathy GCEP, 2022). This gene is associated with AR ?Bent bone dysplasia syndrome 2, OMIM:620076 and AR Nephrotic syndrome, type 26, OMIM:620049. Resources accessed 26th Oct 2026. Sources: Literature; to: PMID: 33242826 Barad et al., 2020 Study identified three siblings from a single nonconsanguineous family with 'bent bone dysplasia'. Clinical findings included atrial septal defects, relative macrocephaly, micrognathia, proptosis, ear abnormalities, widely spaced nipples, elbow dislocations, and severe distal limb contractures. Significant polyhydramnios detected prenatally. Radiographic findings included distinctly bent, under-mineralized long bones, platyspondyly, hypoplastic acetabular roofs. All three affected individuals died shortly after birth. WES of the family revealed comp het LAMA5 variant c.4213G>A, p.Ala1405Thr & c.6157C>T, p.Arg2053Cys in afffected individuals. Parents and an unaffected sibling were het for one of the LAMA5 variants. The p.Ala1405Thr variant is found at a relatively high frequency in gnomAD v4.1.2 (MAF = 0.003101 in Admixed American pop), though no homozygotes have been reported. The REVEL score is also low for this variant (Benign (Moderate) (0.08)). Variant p.Arg2053Cys has a REVEL score of Uncertain (0.29), and MAF = 0.001837 in gnomAD (South Asian pop); 3 homozygous individuals reported. Other case reports describe patients with biallelic LAMA5 variants manifesting in early-onset nephrotic syndrome, without skeletal dysplasia (PMIDs: 35419533;36714636;37985485). LAMA5 association with AR LAMA5-related multisystemic syndrome has been classified as Definitive in ClinGen (Glomerulopathy GCEP, 2022). This gene is associated with AR ?Bent bone dysplasia syndrome 2, OMIM:620076 and AR Nephrotic syndrome, type 26, OMIM:620049. Resources accessed 26th Oct 2026. Sources: Literature |
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| Skeletal dysplasia v10.24 | LAMA5 |
Ida Ertmanska changed review comment from: PMID: 33242826 Barad et al., 2020 Study identified three siblings from a single nonconsanguineous family with 'bent bone dysplasia'. Clinical findings included atrial septal defects, relative macrocephaly, micrognathia, proptosis, ear abnormalities, widely spaced nipples, elbow dislocations, and severe distal limb contractures. Significant polyhydramnios detected prenatally. Radiographic findings included distinctly bent, under-mineralized long bones, platyspondyly, hypoplastic acetabular roofs. All three affected individuals died shortly after birth. WES of the family revealed comp het LAMA5 variant c.4213G>A, p.Ala1405Thr & c.6157C>T, p.Arg2053Cys in afffected individuals. Parents and an unaffected sibling were het for one of the LAMA5 variants. The p.Ala1405Thr variant is found at a relatively high frequency in gnomAD v4.1.2 (MAF = 0.003101 in Admixed American pop), though no homozygotes have been reported. The REVEL score is also low for this variant (Benign (Moderate) (0.08)). Variant p.Arg2053Cys has a REVEL score of Uncertain (0.29), and MAF = 0.001837 in gnomAD (South Asian pop); 3 homozygous individuals reported. Sources: Literature; to: PMID: 33242826 Barad et al., 2020 Study identified three siblings from a single nonconsanguineous family with 'bent bone dysplasia'. Clinical findings included atrial septal defects, relative macrocephaly, micrognathia, proptosis, ear abnormalities, widely spaced nipples, elbow dislocations, and severe distal limb contractures. Significant polyhydramnios detected prenatally. Radiographic findings included distinctly bent, under-mineralized long bones, platyspondyly, hypoplastic acetabular roofs. All three affected individuals died shortly after birth. WES of the family revealed comp het LAMA5 variant c.4213G>A, p.Ala1405Thr & c.6157C>T, p.Arg2053Cys in afffected individuals. Parents and an unaffected sibling were het for one of the LAMA5 variants. The p.Ala1405Thr variant is found at a relatively high frequency in gnomAD v4.1.2 (MAF = 0.003101 in Admixed American pop), though no homozygotes have been reported. The REVEL score is also low for this variant (Benign (Moderate) (0.08)). Variant p.Arg2053Cys has a REVEL score of Uncertain (0.29), and MAF = 0.001837 in gnomAD (South Asian pop); 3 homozygous individuals reported. LAMA5 association with AR LAMA5-related multisystemic syndrome has been classified as Definitive in ClinGen (Glomerulopathy GCEP, 2022). This gene is associated with AR ?Bent bone dysplasia syndrome 2, OMIM:620076 and AR Nephrotic syndrome, type 26, OMIM:620049. Resources accessed 26th Oct 2026. Sources: Literature |
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| Skeletal dysplasia v10.24 | LAMA5 |
Ida Ertmanska gene: LAMA5 was added gene: LAMA5 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA5 were set to 33242826 Phenotypes for gene: LAMA5 were set to ?Bent bone dysplasia syndrome 2, OMIM:620076; bent bone dysplasia syndrome 2, MONDO:0859573 Review for gene: LAMA5 was set to RED Added comment: PMID: 33242826 Barad et al., 2020 Study identified three siblings from a single nonconsanguineous family with 'bent bone dysplasia'. Clinical findings included atrial septal defects, relative macrocephaly, micrognathia, proptosis, ear abnormalities, widely spaced nipples, elbow dislocations, and severe distal limb contractures. Significant polyhydramnios detected prenatally. Radiographic findings included distinctly bent, under-mineralized long bones, platyspondyly, hypoplastic acetabular roofs. All three affected individuals died shortly after birth. WES of the family revealed comp het LAMA5 variant c.4213G>A, p.Ala1405Thr & c.6157C>T, p.Arg2053Cys in afffected individuals. Parents and an unaffected sibling were het for one of the LAMA5 variants. The p.Ala1405Thr variant is found at a relatively high frequency in gnomAD v4.1.2 (MAF = 0.003101 in Admixed American pop), though no homozygotes have been reported. The REVEL score is also low for this variant (Benign (Moderate) (0.08)). Variant p.Arg2053Cys has a REVEL score of Uncertain (0.29), and MAF = 0.001837 in gnomAD (South Asian pop); 3 homozygous individuals reported. Sources: Literature |
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