Speech apraxia
Gene: KAT6AEnsemblGeneIds (GRCh38): ENSG00000083168
EnsemblGeneIds (GRCh37): ENSG00000083168
OMIM: 601408, Gene2Phenotype
KAT6A is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Severe communication difficulties are a feature of the condition.Created: 22 Jun 2024, 1:41 a.m. | Last Modified: 22 Jun 2024, 1:41 a.m.
Panel Version: 0.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arboleda-Tham syndrome, MIM# 616268
Publications
Thomas Scerri (Murdoch Children's Research Institute)
First reported CAS case with a KAT6A splice acceptor variant (Eising et al., 2019; PMID: 29463886).
Kennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with KAT6A variants and found speech delay was a core feature.
St John et al. (2022; PMID: 35892268) examined 49 cases with KAT6A variants and found "Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired." In detail, "Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. "
Sources: Expert list, Expert ReviewCreated: 19 Jun 2024, 4:28 a.m. | Last Modified: 3 Jul 2024, 5:18 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Childhood apraxia of speech; see comments.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Arboleda-Tham syndrome, MIM# 616268
- OMIM
- 601408
- Clinvar variants
- Variants in KAT6A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat6a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KAT6A were changed from Childhood apraxia of speech; see comments. to Arboleda-Tham syndrome, MIM# 616268
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kat6a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Thomas Scerri (Murdoch Children's Research Institute)gene: KAT6A was added gene: KAT6A was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6A were set to 35892268; 38366112; 30245513 Phenotypes for gene: KAT6A were set to Childhood apraxia of speech; see comments. Penetrance for gene: KAT6A were set to Complete Review for gene: KAT6A was set to GREEN