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Cerebellar hypoplasia

Gene: FOXP1

No list
FOXP1 (forkhead box P1)
EnsemblGeneIds (GRCh38): ENSG00000114861
EnsemblGeneIds (GRCh37): ENSG00000114861
OMIM: 605515, Gene2Phenotype
FOXP1 is in 5 panels

1 review

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

In PMID: 31474318 found 11 patient with DNM AHDC1 variant and cerebellar hypoplasia (see suplements of the paper).
Sources: Literature
Created: 26 Jul 2021, 7:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation with language impairment and with or without autistic features

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Jul 2021, 7:03 p.m.

Panel version: 1.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Mental retardation with language impairment and with or without autistic features
OMIM
605515
Clinvar variants
Variants in FOXP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2021, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: FOXP1 was added gene: FOXP1 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXP1 were set to PMID: 31474318 Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features Penetrance for gene: FOXP1 were set to Complete Review for gene: FOXP1 was set to GREEN gene: FOXP1 was marked as current diagnostic