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Speech apraxia

Gene: MEIS2

Amber List (moderate evidence)
MEIS2 (Meis homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000134138
EnsemblGeneIds (GRCh37): ENSG00000134138
OMIM: 601740, Gene2Phenotype
MEIS2 is in 6 panels

1 review

Thomas Scerri (Murdoch Children's Research Institute)

I don't know

First reported CAS proband with a MEI2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733).

Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia.
Sources: Expert Review, Expert list
Created: 25 Jun 2024, 10:21 a.m. | Last Modified: 1 Jul 2024, 10:39 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cleft palate, cardiac defects, and impaired intellectual development, MIM# 600987

Publications

Created: 25 Jun 2024, 10:21 a.m.
Last Modified: 1 Jul 2024, 10:39 a.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Cleft palate, cardiac defects, and impaired intellectual development, MIM# 600987
OMIM
601740
Clinvar variants
Variants in MEIS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: meis2 has been classified as Amber List (Moderate Evidence).

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: meis2 has been classified as Amber List (Moderate Evidence).

25 Jun 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Thomas Scerri (Murdoch Children's Research Institute)

gene: MEIS2 was added gene: MEIS2 was added to Speech apraxia. Sources: Expert Review,Expert list Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEIS2 were set to 32345733; 30055086 Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and impaired intellectual development, MIM# 600987 Review for gene: MEIS2 was set to AMBER