Activity
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| Intellectual disability v9.301 | SEL1L |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SEL1L. Tag Q2_25_ NHS_review was removed from gene: SEL1L. |
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| Intellectual disability v9.299 | SEL1L | Arina Puzriakova reviewed gene: SEL1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | SEL1L |
Arina Puzriakova Source NHS GMS was added to SEL1L. Source Expert Review Green was added to SEL1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v9.12 | SEL1L | Achchuthan Shanmugasundram Classified gene: SEL1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.12 | SEL1L | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Julia Baptista, there is sufficient evidence available (three unrelated families) for the association of this gene with intellectual disability. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.12 | SEL1L | Achchuthan Shanmugasundram Gene: sel1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.11 | SEL1L |
Achchuthan Shanmugasundram changed review comment from: PMID:37943610 reported six patients from three unrelated families with a neurodevelopmental disorder involving developmental delay, intellectual disability, facial dysmorphisms, short stature, microcephaly and seizures. Five patients from two families (Saudi Arabian and Moroccan descent) were identified with homozygous SEL1L variants (p.(Gly585Asp) & p.(Met528Arg)), while an unrelated patient of Italian descent was identified with homozygous HRD1 variant. Although there are additional variants reported in Saudi Arabian patient, SEL1L variant was considered as the potential candidate due to its biological relevance as reported in previous studies in mice. The variants were hypomorphic and impaired endoplasmic reticulum (ER)-associated degradation. PMID:37943617 reported the identification of a homozygous SEL1L variant (p.(Cys141Tyr)) in five patients from a consanguineous Slovakian family. These patients presented with not only ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cells, resulting in frequent infections and early death. All patients exhibited intellectual disability and were unable to speak words and sentences. Although variant in FAR2 gene was also identified in these patients, Sanger sequencing confirmed the segregation of the FAR2 variant with symptoms in patient 2 and FAR2 function is not linked to neurological disorder or agammaglobulinemia, leading to its exclusion from being causal for these patients. This gene has been associated with relevant phenotypes in OMIM (MIMs #621067 & #621068), but not yet in Gene2Phenotype.; to: PMID:37943610 reported six patients from three unrelated families with a neurodevelopmental disorder involving developmental delay, intellectual disability, facial dysmorphisms, short stature, microcephaly and seizures. Five patients from two families (Saudi Arabian and Moroccan descent) were identified with homozygous SEL1L variants (p.(Gly585Asp) & p.(Met528Arg)), while an unrelated patient of Italian descent was identified with homozygous HRD1 variant. The variants were hypomorphic and impaired endoplasmic reticulum (ER)-associated degradation. PMID:37943617 reported the identification of a homozygous SEL1L variant (p.(Cys141Tyr)) in five patients from a consanguineous Slovakian family. These patients presented with not only ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cells, resulting in frequent infections and early death. All patients exhibited intellectual disability and were unable to speak words and sentences. This gene has been associated with relevant phenotypes in OMIM (MIMs #621067 & #621068), but not yet in Gene2Phenotype. |
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| Intellectual disability v9.11 | SEL1L |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SEL1L. Tag Q2_25_ NHS_review tag was added to gene: SEL1L. |
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| Intellectual disability v9.11 | SEL1L | Achchuthan Shanmugasundram Phenotypes for gene: SEL1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068; ?Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, OMIM:621067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.10 | SEL1L | Achchuthan Shanmugasundram Publications for gene: SEL1L were set to 37943610, 37943617 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.9 | SEL1L |
Achchuthan Shanmugasundram changed review comment from: PMID:37943610 reported six patients from three unrelated families with a neurodevelopmental disorder involving developmental delay, intellectual disability, facial dysmorphisms, short stature, microcephaly and seizures. Five patients from two families (Saudi Arabian and Moroccan descent) were identified with homozygous SEL1L variants (p.(Gly585Asp) & p.(Met528Arg)), while an unrelated patient of Italian descent was identified with homozygous HRD1 variant. Although there are additional variants reported in Saudi Arabian patient, SEL1L variant was considered as the potential candidate due to its biological relevance as reported in previous studies in mice. The variants were hypomorphic and impaired endoplasmic reticulum (ER)-associated degradation. PMID:37943617 reported the identification of a homozygous SEL1L variant (p.(Cys141Tyr)) in five patients from a consanguineous Slovakian family. These patients presented with not only ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cells, resulting in frequent infections and early death. All patients exhibited intellectual disability and were unable to speak words and sentences. Although variant in FAR2 gene was also identified in these patients, Sanger sequencing confirmed the segregation of the FAR2 variant with symptoms in patient 2 and FAR2 function is not linked to neurological disorder or agammaglobulinemia (33), leading to its exclusion from being causal for these patients. This gene has been associated with relevant phenotypes in OMIM (MIMs #621067 & #621068), but not yet in Gene2Phenotype.; to: PMID:37943610 reported six patients from three unrelated families with a neurodevelopmental disorder involving developmental delay, intellectual disability, facial dysmorphisms, short stature, microcephaly and seizures. Five patients from two families (Saudi Arabian and Moroccan descent) were identified with homozygous SEL1L variants (p.(Gly585Asp) & p.(Met528Arg)), while an unrelated patient of Italian descent was identified with homozygous HRD1 variant. Although there are additional variants reported in Saudi Arabian patient, SEL1L variant was considered as the potential candidate due to its biological relevance as reported in previous studies in mice. The variants were hypomorphic and impaired endoplasmic reticulum (ER)-associated degradation. PMID:37943617 reported the identification of a homozygous SEL1L variant (p.(Cys141Tyr)) in five patients from a consanguineous Slovakian family. These patients presented with not only ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cells, resulting in frequent infections and early death. All patients exhibited intellectual disability and were unable to speak words and sentences. Although variant in FAR2 gene was also identified in these patients, Sanger sequencing confirmed the segregation of the FAR2 variant with symptoms in patient 2 and FAR2 function is not linked to neurological disorder or agammaglobulinemia, leading to its exclusion from being causal for these patients. This gene has been associated with relevant phenotypes in OMIM (MIMs #621067 & #621068), but not yet in Gene2Phenotype. |
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| Intellectual disability v9.9 | SEL1L |
Achchuthan Shanmugasundram changed review comment from: PMID:37943610 reported six patients from three unrelated families with a neurodevelopmental disorder involving developmental delay, intellectual disability, facial dysmorphisms, short stature, microcephaly and seizures. Five patients from two families (Saudi Arabian and Moroccan descent) were identified with homozygous SEL1L variants (p.(Gly585Asp) & p.(Met528Arg)), while an unrelated patient of Italian descent was identified with homozygous HRD1 variant. Although there are additional variants reported in Saudi Arabian patient, SEL1L variant was considered as the potential candidate due to its biological relevance as reported in previous studies in mice. The variants were hypomorphic and impaired endoplasmic reticulum (ER)-associated degradation. PMID:37943617 reported the identification of a homozygous SEL1L variant (p.(Cys141Tyr)) in five patients from a consanguineous Slovakian family. These patients presented with not only ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cells, resulting in frequent infections and early death. All patients exhibited intellectual disability and were unable to speak words and sentences. This gene has been associated with relevant phenotypes in OMIM (MIMs #621067 & #621068), but not yet in Gene2Phenotype.; to: PMID:37943610 reported six patients from three unrelated families with a neurodevelopmental disorder involving developmental delay, intellectual disability, facial dysmorphisms, short stature, microcephaly and seizures. Five patients from two families (Saudi Arabian and Moroccan descent) were identified with homozygous SEL1L variants (p.(Gly585Asp) & p.(Met528Arg)), while an unrelated patient of Italian descent was identified with homozygous HRD1 variant. Although there are additional variants reported in Saudi Arabian patient, SEL1L variant was considered as the potential candidate due to its biological relevance as reported in previous studies in mice. The variants were hypomorphic and impaired endoplasmic reticulum (ER)-associated degradation. PMID:37943617 reported the identification of a homozygous SEL1L variant (p.(Cys141Tyr)) in five patients from a consanguineous Slovakian family. These patients presented with not only ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cells, resulting in frequent infections and early death. All patients exhibited intellectual disability and were unable to speak words and sentences. Although variant in FAR2 gene was also identified in these patients, Sanger sequencing confirmed the segregation of the FAR2 variant with symptoms in patient 2 and FAR2 function is not linked to neurological disorder or agammaglobulinemia (33), leading to its exclusion from being causal for these patients. This gene has been associated with relevant phenotypes in OMIM (MIMs #621067 & #621068), but not yet in Gene2Phenotype. |
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| Intellectual disability v9.9 | SEL1L | Achchuthan Shanmugasundram reviewed gene: SEL1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 37943610, 37943617; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068, ?Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, OMIM:621067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.243 | SEL1L |
Julia Baptista gene: SEL1L was added gene: SEL1L was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEL1L were set to 37943610, 37943617 Phenotypes for gene: SEL1L were set to Neurodevelopmental disorder Review for gene: SEL1L was set to GREEN Added comment: Biallelic missense variants of SEL1L and HRD1 (or SYVN1) in 6 children from 3 independent families presenting with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, hypotonia, and/or ataxia (Wang et al 2024). Hypomorphic variants. A biallelic SEL1L variant (p. Cys141Tyr) in 5 patients from a consanguineous Slovakian family reported by Weis et al 2024. A gene-disease association is now described in OMIM. Sources: Literature |
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