Severe microcephaly

Gene: ANKLE2

Red List (low evidence)

ANKLE2 (ankyrin repeat and LEM domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000176915
EnsemblGeneIds (GRCh37): ENSG00000176915
OMIM: 616062, Gene2Phenotype
ANKLE2 is in 1 panel

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in one family
12 Jan 2017, 11:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Microcephaly 16, primary, autosomal recessive 616681

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Microcephaly 16, primary, autosomal recessive, 616681
OMIM
616062
Clinvar variants
Variants in ANKLE2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

12 Jan 2017, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for ANKLE2 were set to 25259927

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ANKLE2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ANKLE2 was created by rfoulger