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Severe microcephaly

Gene: BPTF

Amber List (moderate evidence)

BPTF (bromodomain PHD finger transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000171634
EnsemblGeneIds (GRCh37): ENSG00000171634
OMIM: 601819, Gene2Phenotype
BPTF is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support gene-diseas association. This gene should be rated Green at the next review.
Created: 5 May 2021, 10:33 a.m. | Last Modified: 5 May 2021, 10:33 a.m.
Panel Version: 2.122
Comment on publications: PMID:33522091 additonal paper describing 12/20 unrelated cases with microcephaly
Created: 5 May 2021, 10:32 a.m. | Last Modified: 5 May 2021, 10:32 a.m.
Panel Version: 2.121

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly observed in 7/9 individuals reported.
Sources: Expert list
Created: 4 Sep 2020, 10:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755
Tags
Q2_21_rating
OMIM
601819
Clinvar variants
Variants in BPTF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

5 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: BPTF.

5 May 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BPTF were set to 28942966

5 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: BPTF was added gene: BPTF was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BPTF were set to 28942966 Phenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755 Review for gene: BPTF was set to GREEN gene: BPTF was marked as current diagnostic