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| Intellectual disability v9.196 | ANKS1B | Ida Ertmanska Phenotypes for gene: ANKS1B were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.195 | ANKS1B | Ida Ertmanska Phenotypes for gene: ANKS1B were changed from Developmental delay; Intellectual disability; Autism; Speech and language delay to complex neurodevelopmental disorder, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.195 | ANKS1B | Ida Ertmanska Classified gene: ANKS1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.195 | ANKS1B | Ida Ertmanska Gene: anks1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.194 | ANKS1B |
Ida Ertmanska changed review comment from: PMID: 31388001 Carbonell et al., 2019 Report of 2 unrelated families (EIN-1 and EIN-2), with 6 affected members. The individuals presented with a pattern of developmental delays, oculomotor and oromotor irregularities, dysmetria, impaired fine-motor dexterity, and problems with balance and gait. The individuals had normal ntelligence (FSIQ = 85-105), except patient EIN-2-1 (FSIQ = 81, slightly below average). Also reported 10 individuals from other sources (Decipher, University of Toronto, GeneMatcher), with microdeletions in ANKS1B. 9 individuals from 7 families with monogenic deletions in ANKS1B are described in Table 1. 1 family was South Asian and 6 had Caucasian ancestry. Craniofacial dysmorphism was reported in 5/7 families. 3/9 patients were diagnosed with ID, however the severity is not specified, and two of the individuals were under 5 years of age - diagnosis is difficult before age 5. 6/9 individuals had developmental delay, 5/9 had ASD, and 4/9 had ADHD. 4/9 patients had some abnormalities reported on MRI (thin corpus callosum, enlarged ventricles). Functional evidence: PMID: 38129387 Cho et al., 2023 'Anks1b-deficient mouse models display deficits in oligodendrocyte maturation, myelination, and Rac1 function' This gene is not yet associated with a phenotype in OMIM (accessed 12th Dec 2025).; to: PMID: 31388001 Carbonell et al., 2019 Report of 2 unrelated families (EIN-1 and EIN-2), with 6 affected members. The individuals presented with a complex neurodevelopmental disorder, with normal ntelligence (FSIQ = 85-105), except patient EIN-2-1 (FSIQ = 81, slightly below average). Also reported 10 individuals from other sources (Decipher, University of Toronto, GeneMatcher), with microdeletions in ANKS1B. 9 individuals from 7 families with monogenic deletions in ANKS1B are described in Table 1. 1 family was South Asian and 6 had Caucasian ancestry. Craniofacial dysmorphism was reported in 5/7 families. 3/9 patients were diagnosed with ID, however the severity is not specified, and two of the individuals were under 5 years of age - diagnosis is difficult before age 5. 6/9 individuals had developmental delay, 5/9 had ASD, and 4/9 had ADHD. 4/9 patients had some abnormalities reported on MRI (thin corpus callosum, enlarged ventricles). Functional evidence: PMID: 38129387 Cho et al., 2023 'Anks1b-deficient mouse models display deficits in oligodendrocyte maturation, myelination, and Rac1 function' This gene is not yet associated with a phenotype in OMIM (accessed 12th Dec 2025). |
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| Intellectual disability v9.194 | ANKS1B |
Ida Ertmanska changed review comment from: PMID: 31388001 Carbonell et al., 2019 Report of 2 unrelated families (EIN-1 and EIN-2), with 6 affected members. The individuals presented with a pattern of developmental delays, oculomotor and oromotor irregularities, dysmetria, impaired fine-motor dexterity, and problems with balance and gait. The individuals had normal ntelligence (FSIQ = 85-105), except patient EIN-2-1 (FSIQ = 81, slightly below average). Also reported 10 individuals from other sources (Decipher, University of Toronto, GeneMatcher), with microdeletions in ANKS1B. 9 individuals from 7 families with monogenic deletions in ANKS1B are described in Table 1. 1 family was South Asian and 6 had Caucasian ancestry. Craniofacial dysmorphism was reported in 5/7 families. 3/9 patients were diagnosed with ID, however the severity is not specified, and two of the individuals were under 5 years of age - diagnosis is difficult before age 5. 6/9 individuals had developmental delay, 5/9 had ASD, and 4/9 had ADHD. This gene is not yet associated with a phenotype in OMIM (accessed 12th Dec 2025).; to: PMID: 31388001 Carbonell et al., 2019 Report of 2 unrelated families (EIN-1 and EIN-2), with 6 affected members. The individuals presented with a pattern of developmental delays, oculomotor and oromotor irregularities, dysmetria, impaired fine-motor dexterity, and problems with balance and gait. The individuals had normal ntelligence (FSIQ = 85-105), except patient EIN-2-1 (FSIQ = 81, slightly below average). Also reported 10 individuals from other sources (Decipher, University of Toronto, GeneMatcher), with microdeletions in ANKS1B. 9 individuals from 7 families with monogenic deletions in ANKS1B are described in Table 1. 1 family was South Asian and 6 had Caucasian ancestry. Craniofacial dysmorphism was reported in 5/7 families. 3/9 patients were diagnosed with ID, however the severity is not specified, and two of the individuals were under 5 years of age - diagnosis is difficult before age 5. 6/9 individuals had developmental delay, 5/9 had ASD, and 4/9 had ADHD. 4/9 patients had some abnormalities reported on MRI (thin corpus callosum, enlarged ventricles). Functional evidence: PMID: 38129387 Cho et al., 2023 'Anks1b-deficient mouse models display deficits in oligodendrocyte maturation, myelination, and Rac1 function' This gene is not yet associated with a phenotype in OMIM (accessed 12th Dec 2025). |
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| Intellectual disability v9.194 | ANKS1B | Ida Ertmanska changed review comment from: Comment on list classification: Affected individuals had normal intellect or slightly below average, which does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. Hence, ANKS1B should remain Amber for Intellectual disability until more evidence emerges.; to: Comment on list classification: Individuals with monogenic heterozygous microdeletions in ANSK1B had normal intellect or slightly below average, which does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. Hence, ANKS1B should remain Amber for Intellectual disability until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.194 | ANKS1B |
Ida Ertmanska changed review comment from: PMID: 31388001 Carbonell et al., 2019 Report of 2 unrelated families (EIN-1 and EIN-2), with 6 affected members. The individuals presented with a pattern of developmental delays, oculomotor and oromotor irregularities, dysmetria, impaired fine-motor dexterity, and problems with balance and gait. The individuals had normal ntelligence (FSIQ = 85-105), except patient EIN-2-1 (FSIQ = 81, slightly below average). Also reported 10 individuals from other sources (Decipher, University of Toronto, GeneMatcher), with microdeletions in ANKS1B. 9 individuals from 7 families with monogenic deletions in ANKS1B are described in Table 1. 1 family was South Asian and 6 had Caucasian ancestry. Craniofacial dysmorphism was reported in 5/7 families. 3/9 patients were diagnosed with ID, however the severity is not specified, and two of the individuals were under 5 years of age - diagnosis is difficult before age 5. 6/9 individuals had developmental delay, 5/9 had ASD, and 4/9 had ADHD. This gene is not yet associated with a phenotype in OMIM (accessed 12th Dec 2025).; to: PMID: 31388001 Carbonell et al., 2019 Report of 2 unrelated families (EIN-1 and EIN-2), with 6 affected members. The individuals presented with a pattern of developmental delays, oculomotor and oromotor irregularities, dysmetria, impaired fine-motor dexterity, and problems with balance and gait. The individuals had normal ntelligence (FSIQ = 85-105), except patient EIN-2-1 (FSIQ = 81, slightly below average). Also reported 10 individuals from other sources (Decipher, University of Toronto, GeneMatcher), with microdeletions in ANKS1B. 9 individuals from 7 families with monogenic deletions in ANKS1B are described in Table 1. 1 family was South Asian and 6 had Caucasian ancestry. Craniofacial dysmorphism was reported in 5/7 families. 3/9 patients were diagnosed with ID, however the severity is not specified, and two of the individuals were under 5 years of age - diagnosis is difficult before age 5. 6/9 individuals had developmental delay, 5/9 had ASD, and 4/9 had ADHD. This gene is not yet associated with a phenotype in OMIM (accessed 12th Dec 2025). |
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| Intellectual disability v9.194 | ANKS1B | Ida Ertmanska edited their review of gene: ANKS1B: Added comment: Comment on list classification: Affected individuals had normal intellect or slightly below average, which does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. Hence, ANKS1B should remain Amber for Intellectual disability until more evidence emerges.; Changed rating: AMBER; Changed publications to: 31388001, 38129387; Changed phenotypes to: complex neurodevelopmental disorder, MONDO:0100038; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.194 | ANKS1B | Ida Ertmanska commented on gene: ANKS1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.186 | ANKS1B |
Nour Elkhateeb gene: ANKS1B was added gene: ANKS1B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ANKS1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKS1B were set to 31388001; 38129387 Phenotypes for gene: ANKS1B were set to Developmental delay; Intellectual disability; Autism; Speech and language delay Review for gene: ANKS1B was set to GREEN Added comment: Monoallelic ANKS1B microdeletion resulting in Haploinsufficiency have been reported to be associated with variable developmental delays, intellectual disability, behavioural difficulties, as well as other features such as Craniofacial dysmorphism, and MRI brain abnormalities in 4 families (PMID 31388001, 38129387). Sources: Literature |
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