Microcephaly
Gene: BPTFEnsemblGeneIds (GRCh38): ENSG00000171634
EnsemblGeneIds (GRCh37): ENSG00000171634
OMIM: 601819, Gene2Phenotype
BPTF is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Microcephaly observed in 7/9 individuals reported.Created: 6 Mar 2020, 9:49 a.m. | Last Modified: 6 Mar 2020, 9:49 a.m.
Panel Version: 0.92
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
- OMIM
- 601819
- Clinvar variants
- Variants in BPTF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bptf has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BPTF were changed from to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BPTF were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BPTF was added gene: BPTF was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BPTF was set to Unknown