Activity
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| Intellectual disability v9.325 | PHF12 | Arina Puzriakova Tag gene-checked tag was added to gene: PHF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.256 | PHF12 | Ida Ertmanska Phenotypes for gene: PHF12 were changed from to complex neurodevelopmental disorder, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.255 | PHF12 | Ida Ertmanska Publications for gene: PHF12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.254 | PHF12 | Ida Ertmanska Classified gene: PHF12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.254 | PHF12 | Ida Ertmanska Added comment: Comment on list classification: There are numerous individuals reported in literature in large cohort studies of intellectual disability, ASD, and developmental disorders patients, harbouring heterozygous de novo variants in PHF12. The association between PHF12 and a complex neurodevelopmental disorder was classified as Definitive by the Intellectual Disability and Autism ClinGen Expert Panel (Feb 2025). Based on available evidence this gene should be promoted to Green for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.254 | PHF12 | Ida Ertmanska Gene: phf12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.253 | PHF12 | Ida Ertmanska Tag Q1_26_NHS_review tag was added to gene: PHF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.253 | PHF12 | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: PHF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.253 | PHF12 |
Ida Ertmanska changed review comment from: The below publication information is taken from ClinGen evidence summary: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_329aa190-d20e-4f6b-9c85-58242a8a2d33-2025-02-19T110000.000Z?page=1&size=25&search= Lelieveld SH, et al., 2016, PMID: 27479843 Cohort (Radboud University Medical Center) with unexplained intellectual disability, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.425C>A (p.Ser142Ter). Deciphering Developmental Disorders Study, 2017, PMID: 28135719 DDD Study cohort with severe undiagnosed developmental disorders, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.2645del (p.Pro882GlnfsTer30). C Yuen RK, et al., 2017, PMID: 28263302 ASD cohort (MSSNG), no detailed clinical information available. Method: Whole genome shotgun sequencing. Het for de novo NM_001033561.2(PHF12):c.1091dup (p.Asn365Ter). Kaplanis J, et al., 2020, PMID: 33057194 31,058 parent-offspring trios of individuals with developmental disorders. Cohort (GeneDx) with developmental disorders, no detailed clinical information available: GDX 15850 het for de novo NM_001033561.2(PHF12):c.2360-1G>A DDD Study cohort: DDD13k.08251 - het for de novo NM_001033561.2(PHF12):c.1970C>G (p.Ser657Ter) DDD Study cohort: DDD13k.05315 - het for de novo NM_001033561.2(PHF12):c.862C>T (p.Gln288Ter) Cohort (Radboud University Medical Center) with unexplained intellectual disability: de novo heterozygous NM_001033561.2(PHF12):c.2542-2A>C PHF12 is not yet linked to a disease entity in OMIM (accessed 10th Feb 2026). The gene-disease association between PHF12 and AD complex neurodevelopmental disorder (MONDO:0100038) was classified as Definitive by the Intellectual Disability and Autism ClinGen Expert Panel (Feb 2025). Gene2Phenotype rated its association with PHF12-related developmental disorder as Strong.; to: The below publication information is taken from ClinGen evidence summary: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_329aa190-d20e-4f6b-9c85-58242a8a2d33-2025-02-19T110000.000Z?page=1&size=25&search= Lelieveld SH, et al., 2016, PMID: 27479843 Cohort (Radboud University Medical Center) with unexplained intellectual disability, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.425C>A (p.Ser142Ter). Deciphering Developmental Disorders Study, 2017, PMID: 28135719 DDD Study cohort with severe undiagnosed developmental disorders, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.2645del (p.Pro882GlnfsTer30). C Yuen RK, et al., 2017, PMID: 28263302 ASD cohort (MSSNG), no detailed clinical information available. Method: Whole genome shotgun sequencing. Het for de novo NM_001033561.2(PHF12):c.1091dup (p.Asn365Ter). Kaplanis J, et al., 2020, PMID: 33057194 31,058 parent-offspring trios of individuals with developmental disorders. Cohort (GeneDx) with developmental disorders, no detailed clinical information available: GDX 15850 het for de novo NM_001033561.2(PHF12):c.2360-1G>A DDD Study cohort: DDD13k.08251 - het for de novo NM_001033561.2(PHF12):c.1970C>G (p.Ser657Ter) DDD Study cohort: DDD13k.05315 - het for de novo NM_001033561.2(PHF12):c.862C>T (p.Gln288Ter) Cohort (Radboud University Medical Center) with unexplained intellectual disability: de novo heterozygous NM_001033561.2(PHF12):c.2542-2A>C Functional evidence: PMID: 27956701 Graveline et al., 2017 - Phf12 (Pf1) -/- mouse embryos had global growth retardation and impaired development of skeleton, associated skeletal muscle, and brain. They died mid- to late-gestation due to developmental defects including edema and internal hemorrhage. Heterozygous Pf1+/- mice developed normally. PHF12 is not yet linked to a disease entity in OMIM (accessed 10th Feb 2026). The gene-disease association between PHF12 and AD complex neurodevelopmental disorder (MONDO:0100038) was classified as Definitive by the Intellectual Disability and Autism ClinGen Expert Panel (Feb 2025). Gene2Phenotype rated its association with PHF12-related developmental disorder as Strong. |
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| Intellectual disability v9.253 | PHF12 |
Ida Ertmanska changed review comment from: The below publication information is taken from ClinGen evidence summary: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_329aa190-d20e-4f6b-9c85-58242a8a2d33-2025-02-19T110000.000Z?page=1&size=25&search= Lelieveld SH, et al., 2016, PMID: 27479843 Cohort (Radboud University Medical Center) with unexplained intellectual disability, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.425C>A (p.Ser142Ter). Deciphering Developmental Disorders Study, 2017, PMID: 28135719 DDD Study cohort with severe undiagnosed developmental disorders, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.2645del (p.Pro882GlnfsTer30). C Yuen RK, et al., 2017, PMID: 28263302 ASD cohort (MSSNG), no detailed clinical information available. Method: Whole genome shotgun sequencing. Het for de novo NM_001033561.2(PHF12):c.1091dup (p.Asn365Ter). Kaplanis J, et al., 2020, PMID: 33057194 31,058 parent-offspring trios of individuals with developmental disorders. Cohort (GeneDx) with developmental disorders, no detailed clinical information available: GDX 15850 het for de novo NM_001033561.2(PHF12):c.2360-1G>A DDD Study cohort: DDD13k.08251 - het for de novo NM_001033561.2(PHF12):c.1970C>G (p.Ser657Ter) DDD Study cohort: DDD13k.05315 - het for de novo NM_001033561.2(PHF12):c.862C>T (p.Gln288Ter) Cohort (Radboud University Medical Center) with unexplained intellectual disability: de novo heterozygous NM_001033561.2(PHF12):c.2542-2A>C PHF12 is not yet linked to a disease entity in OMIM (accessed 10th Feb 2026). The gene-disease association between PHF12 and AD complex neurodevelopmental disorder (MONDO:0100038) was classified as Definitive by the Intellectual Disability and Autism ClinGen Expert Panel (Feb 2025). Gene2Phenotype rated its association with PHF12-related developmental disorder as Strong.; to: The below publication information is taken from ClinGen evidence summary: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_329aa190-d20e-4f6b-9c85-58242a8a2d33-2025-02-19T110000.000Z?page=1&size=25&search= Lelieveld SH, et al., 2016, PMID: 27479843 Cohort (Radboud University Medical Center) with unexplained intellectual disability, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.425C>A (p.Ser142Ter). Deciphering Developmental Disorders Study, 2017, PMID: 28135719 DDD Study cohort with severe undiagnosed developmental disorders, no detailed clinical information available. Exome seq revealed de novo heterozygous NM_001033561.2(PHF12):c.2645del (p.Pro882GlnfsTer30). C Yuen RK, et al., 2017, PMID: 28263302 ASD cohort (MSSNG), no detailed clinical information available. Method: Whole genome shotgun sequencing. Het for de novo NM_001033561.2(PHF12):c.1091dup (p.Asn365Ter). Kaplanis J, et al., 2020, PMID: 33057194 31,058 parent-offspring trios of individuals with developmental disorders. Cohort (GeneDx) with developmental disorders, no detailed clinical information available: GDX 15850 het for de novo NM_001033561.2(PHF12):c.2360-1G>A DDD Study cohort: DDD13k.08251 - het for de novo NM_001033561.2(PHF12):c.1970C>G (p.Ser657Ter) DDD Study cohort: DDD13k.05315 - het for de novo NM_001033561.2(PHF12):c.862C>T (p.Gln288Ter) Cohort (Radboud University Medical Center) with unexplained intellectual disability: de novo heterozygous NM_001033561.2(PHF12):c.2542-2A>C PHF12 is not yet linked to a disease entity in OMIM (accessed 10th Feb 2026). The gene-disease association between PHF12 and AD complex neurodevelopmental disorder (MONDO:0100038) was classified as Definitive by the Intellectual Disability and Autism ClinGen Expert Panel (Feb 2025). Gene2Phenotype rated its association with PHF12-related developmental disorder as Strong. |
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| Intellectual disability v9.253 | PHF12 | Ida Ertmanska reviewed gene: PHF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479843, 28135719, 28263302, 33057194; Phenotypes: complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.234 | PHF12 |
Sophie Ellis gene: PHF12 was added gene: PHF12 was added to Intellectual disability. Sources: ClinGen Mode of inheritance for gene: PHF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Penetrance for gene: PHF12 were set to unknown Mode of pathogenicity for gene: PHF12 was set to Other Review for gene: PHF12 was set to GREEN gene: PHF12 was marked as current diagnostic Added comment: ClinGen Definitive Classification - 02/19/2025 Sources: ClinGen |
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