Cerebral Palsy
Gene: BCL11AEnsemblGeneIds (GRCh38): ENSG00000119866
EnsemblGeneIds (GRCh37): ENSG00000119866
OMIM: 606557, Gene2Phenotype
BCL11A is in 7 panels
2 reviews
Luisa Weiss (University of Adelaide)
3 independent individuals with LoF mutations in BCL11A and CP, two of which have been diagnosed as "dyskinetic CP". There is phenotypic overlap with a form syndromic intellectual disability caused by BCL11A haploinsufficiency with features like delayed psychomotor development, motor delays, autism spectrum disorder (ASD), speech and language delay through to apraxia of speech, persistence of fetal haemoglobin and variable dysmorphic features.Created: 22 May 2023, 11:26 p.m. | Last Modified: 22 May 2023, 11:26 p.m.
Panel Version: 1.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dias-Logan syndrome, MIM#617101
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Intellectual disability, microcephaly, dysmorphic features and persistence of fetal haemoglobin but no specific overlap with CP.
Sources: Expert ReviewCreated: 18 Sep 2021, 6:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dias-Logan syndrome, MIM# 617101
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Dias-Logan syndrome, MIM# 617101
- OMIM
- 606557
- Clinvar variants
- Variants in BCL11A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BCL11A were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bcl11a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bcl11a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BCL11A was added gene: BCL11A was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BCL11A were set to Dias-Logan syndrome, MIM# 617101 Review for gene: BCL11A was set to RED