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Intellectual disability v9.136 RELN Achchuthan Shanmugasundram changed review comment from: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with six different heterozygous variants (four missense and two splice site variants). Of these 13 individuals, 11 had intellectual disability of variable severity (two severe, four moderate, four mild and one borderline). The missense variants were either absent or present at a very low allele frequency in gnomAD v4.1.0.

This gene is rated green with the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on the 'Intellectual disability syndromic and non-syndromic' panel of PanelApp Australia.; to: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with six different heterozygous variants (four missense and two splice site variants). Of these 13 individuals, 11 had intellectual disability of variable severity (two severe, four moderate, four mild and one borderline). The missense variants were either absent or present at a very low allele frequency in gnomAD v4.1.0.

This gene is rated green with the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on the 'Intellectual disability syndromic and non-syndromic' panel of PanelApp Australia.

This gene can therefore remain green with the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on this panel.
Intellectual disability v9.136 RELN Achchuthan Shanmugasundram changed review comment from: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with six different heterozygous variants (four missense, one frameshift and one exon. Of these 13 individuals, 11 had intellectual disability of variable severity (two severe, four moderate, four mild and one borderline). The missense variants were either absent present at a very low allele frequency in gnomAD v4.1.0; to: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with six different heterozygous variants (four missense and two splice site variants). Of these 13 individuals, 11 had intellectual disability of variable severity (two severe, four moderate, four mild and one borderline). The missense variants were either absent or present at a very low allele frequency in gnomAD v4.1.0.

This gene is rated green with the MOI of 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' on the 'Intellectual disability syndromic and non-syndromic' panel of PanelApp Australia.
Intellectual disability v9.136 RELN Achchuthan Shanmugasundram changed review comment from: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with six different heterozygous variants (four missense, one frameshift and one exon. Of these 13 individuals, 11 had intellectual disability of variable severity (two severe, four moderate, four mild and one borderline). The missense variants were either absent present at a very low allele frequency in gnomAD v4.1.0); to: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with six different heterozygous variants (four missense, one frameshift and one exon. Of these 13 individuals, 11 had intellectual disability of variable severity (two severe, four moderate, four mild and one borderline). The missense variants were either absent present at a very low allele frequency in gnomAD v4.1.0
Intellectual disability v9.136 RELN Achchuthan Shanmugasundram changed review comment from: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with seven different heterozygous variants. Of these 13 individuals, 6 patients from four families had moderate/ severe intellectual disability, while 4 patients had mild ID and one had ID of unspecified severity.; to: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with six different heterozygous variants (four missense, one frameshift and one exon. Of these 13 individuals, 11 had intellectual disability of variable severity (two severe, four moderate, four mild and one borderline). The missense variants were either absent present at a very low allele frequency in gnomAD v4.1.0)
Intellectual disability v9.136 RELN Achchuthan Shanmugasundram commented on gene: RELN: Biallelic variants in RELN are associated with 'lissencephaly with cerebellar hypoplasia' (MONDO:0019450) with 'Definitive' rating by the Brain Malformations GCEP expert panel in ClinGen. Intellectual disability is one of the presenting phenotypes of this disease as recorded in OMIM (MIM # 257320, record accessed on 17 October 2025). Biallelic RELN variants are also associated with the same phenotype with 'definitive' rating on the DD panel in Gene2Phenotype.

Monoallelic variants in RELN are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism GCEP expert panel in ClinGen. However, the recent cases reported in PMID:35769015 were not included in ClinGen curation.

PMID:35769015 reported 13 individuals from seven families with seven different heterozygous variants. Of these 13 individuals, 6 patients from four families had moderate/ severe intellectual disability, while 4 patients had mild ID and one had ID of unspecified severity.
Intellectual disability v9.134 RELN Achchuthan Shanmugasundram changed review comment from: In addition to previously reported cases, PMID:35769015 reported four families with biallelic RELN variants and neurodevelopmental disorder, of which one patient had global developmental delay and patients from another unrelated family had severe intellectual disability.

PMID:35769015 also reported seven unrelated families with monoallelic RELN variants and neurodevelopmental disorder, of which patients from three families had mild-severe intellectual disability.

Biallelic variants have been associated with Lissencephaly 2 in both OMIM (MIM #257320) and Gene2Phenotype (with 'definitive' rating in the DD panel), and impaired intellectual development has been associated as one of the clinical presentations in OMIM. Monoallelic variants have been associated with "{Epilepsy, familial temporal lobe, 7}" (MIM # 616436) in OMIM, which does not currently record ID as one of the clinical presentations.; to: In addition to previously reported cases, PMID:35769015 reported four families with biallelic RELN variants and neurodevelopmental disorder, of which one patient had global developmental delay and patients from another unrelated family had severe intellectual disability.

PMID:35769015 also reported seven unrelated families with monoallelic RELN variants and neurodevelopmental disorder, of which patients from all seven families had mild-severe intellectual disability.

Biallelic variants have been associated with Lissencephaly 2 in both OMIM (MIM #257320) and Gene2Phenotype (with 'definitive' rating in the DD panel), and impaired intellectual development has been associated as one of the clinical presentations in OMIM. Monoallelic variants have been associated with "{Epilepsy, familial temporal lobe, 7}" (MIM # 616436) in OMIM, which does not currently record ID as one of the clinical presentations.
Intellectual disability v6.11 RELN Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: RELN.
Intellectual disability v6.11 RELN Sarah Leigh reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v6.10 RELN Achchuthan Shanmugasundram Source NHS GMS was added to RELN.
Mode of inheritance for gene RELN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v5.395 RELN Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: The MOI should be updated from "BIALLELIC, autosomal or pseudoautosomal"to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are three unrelated cases with monoallelic RELN variants and intellectual disability reported in the literature.; to: Comment on mode of inheritance: The MOI should be updated from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next GMS review as there are three unrelated cases with monoallelic RELN variants and intellectual disability reported in the literature.
Intellectual disability v5.395 RELN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be updated from "BIALLELIC, autosomal or pseudoautosomal"to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are three unrelated cases with monoallelic RELN variants and intellectual disability reported in the literature.
Intellectual disability v5.395 RELN Achchuthan Shanmugasundram Mode of inheritance for gene: RELN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v5.394 RELN Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.394 RELN Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.393 RELN Achchuthan Shanmugasundram Tag Q4_23_MOI tag was added to gene: RELN.
Intellectual disability v5.393 RELN Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.393 RELN Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.393 RELN Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), 257320; LISSENCEPHALY 2 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
Intellectual disability v5.392 RELN Achchuthan Shanmugasundram Publications for gene: RELN were set to
Intellectual disability v5.391 RELN Achchuthan Shanmugasundram reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 35769015; Phenotypes: Lissencephaly 2 (Norman-Roberts type), OMIM:257320, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1732 RELN Dmitrijs Rots changed review comment from: Multiple individuals with monoallelic and biallelic variants with different phenotypes are reported: 35769015. Monoallelic variants are mainly missense.; to: Multiple individuals with monoallelic and biallelic variants with different phenotypes are reported: 35769015. Monoallelic variants are mainly missense. The inheritance should be changed to both.
Intellectual disability v3.1732 RELN Dmitrijs Rots reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 35769015; Phenotypes: Lisencephaly, seizures, autism; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v2.468 RELN Louise Daugherty Source Victorian Clinical Genetics Services was added to RELN.
Intellectual disability RELN BRIDGE consortium edited their review of RELN
Intellectual disability RELN BRIDGE consortium edited their review of RELN
Intellectual disability RELN BRIDGE consortium reviewed RELN