DDG2P
Gene: ACTL6B
The DDG2P confidence category for the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 30656450;31031012). The DDG2P confidence category for the disease INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS, OMIM:618470 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:28867141).Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS, OMIM:618470; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468
Publications
Comment on phenotypes: Removed 'Unspecified Neurodevelopmental Disorder' from phenotypes to match G2P update.Created: 5 Nov 2019, 1:54 p.m. | Last Modified: 5 Nov 2019, 1:54 p.m.
Panel Version: 1.146
Comment on list classification: Updated rating of ACTL6B from Red to Green, to match 'confirmed' rating of new DDG2P disorder: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE.Created: 3 Oct 2019, 12:11 p.m. | Last Modified: 3 Oct 2019, 12:11 p.m.
Panel Version: 1.121
Comment on mode of pathogenicity: Changed MOP from 'Other' to default, since the confirmed (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) disorder has loss of function listed as the DDG2P mutation consequence.Created: 3 Oct 2019, 12:11 p.m. | Last Modified: 3 Oct 2019, 12:11 p.m.
Panel Version: 1.120
Comment on mode of inheritance: Changed MOI from MONOALLELIC to BIALLELIC to match the MOI of the confirmed disorder. Only the new biallelic disorder (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) has a 'confirmed' rating. Both monoallelic disorders have 'possible' ratings.Created: 3 Oct 2019, 12:10 p.m. | Last Modified: 3 Oct 2019, 12:10 p.m.
Panel Version: 1.119
Two new gene:disorder associations added to DDG2P for ACTL6B, September 2019:
New gene:disorder association: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
New gene:disorder association: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame; DDG2P allelic requirement: monoallelic.Created: 3 Oct 2019, 11:07 a.m. | Last Modified: 3 Oct 2019, 11:07 a.m.
Panel Version: 1.118
Original DDG2P rating for Unspecified Neurodevelopmental Disorder: possible. DDG2P mode of pathogenicity: all missense/in frame; DG2P allelic requirement: monoallelic.Created: 19 Nov 2018, 11:29 a.m. | Last Modified: 3 Oct 2019, 11:02 a.m.
Panel Version: 1.116
Tag watchlist was removed from gene: ACTL6B.
Publications for gene: ACTL6B were updated from 28867141; 31130285 to 28867141; 30656450; 31031012; 31130285
Tag watchlist tag was added to gene: ACTL6B.
Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
Gene: actl6b has been classified as Green List (High Evidence).
Mode of pathogenicity for gene: ACTL6B was changed from Other - please provide details in the comments to None
Mode of inheritance for gene: ACTL6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 28867141
Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder to Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
Rebecca Foulger: Original DDG2P rating: possibl
gene: ACTL6B was added gene: ACTL6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ACTL6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTL6B were set to 28867141 Phenotypes for gene: ACTL6B were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: ACTL6B was set to Other - please provide details in the comments