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  3. ANKRD11
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Clefting

Gene: ANKRD11

Green List (high evidence)
ANKRD11 (ankyrin repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000167522
EnsemblGeneIds (GRCh37): ENSG00000167522
OMIM: 611192, Gene2Phenotype
ANKRD11 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green, clefting is a common enough feature and the other features can be subtle
Created: 9 Feb 2017, 2:28 p.m.
Comment on list classification: Changed status from Red to Amber- This disorder has a heterogeneous phenotype. There seems to be enough evidence for this gene to be involved in KGB syndrome but it depends if this should be in the clefting panel.
Created: 24 Jan 2017, 2:25 p.m.
Comment on publications: added recent publications providing new evidence
Created: 24 Jan 2017, 2:08 p.m.
Created: 24 Jan 2017, 2:08 p.m.

Panel version: 0.94

Usha Kini (Oxford Centre for Genomic Medicine)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KBG syndrome- orofacial clefting; intellectual disability; dental anomalies; dysmorphism

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

Created: 8 Dec 2016, 10:31 a.m.

Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)
  • Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
  • Orofacial Clefting with skeletal features
OMIM
611192
Clinvar variants
Variants in ANKRD11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jan 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

ANKRD11 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen

24 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Jan 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ANKRD11 were set to 21782149;25838844;2705097;27900361

24 Jan 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ANKRD11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jan 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ANKRD11 were set to KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism);Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome;Orofacial Clefting with skeletal features

24 Jan 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ANKRD11 were set to KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism); Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome);Orofacial Clefting with skeletal features

24 Jan 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ANKRD11 were set to KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism;Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome);Orofacial Clefting with skeletal features

24 Jan 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ANKRD11 were set to KBG syndrome 148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism;Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome);Orofacial Clefting with skeletal features

23 Jan 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ANKRD11 were set to KBG syndrome - orofacial clefting, intellectual disability, dental anomalies, dysmorphism; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features

18 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

ANKRD11 was added to Cleftingpanel. Sources: UKGTN

18 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

ANKRD11 was created by oniblock