Severe microcephaly
Gene: BPTFThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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 microcephalyCreated: 5 May 2021, 10:32 a.m. | Last Modified: 5 May 2021, 10:32 a.m.
Panel Version: 2.121
Microcephaly observed in 7/9 individuals reported.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: BPTF.
Source Expert Review Green was added to BPTF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: bptf has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: BPTF.
Publications for gene: BPTF were set to 28942966
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
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