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  2. Growth failure in early childhood
  3. ANKRD11
STRs in panel
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Growth failure in early childhood

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

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that ANKRD11 should be included on the panel. Although most skeletal dysplasias are not included in this panel, KBG syndrome is a short stature condition in which skeletal features might be less prominent. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.
Created: 30 May 2019, 9:34 a.m.

Panel version: 0.21

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: KBG.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
KBG

Created: 14 May 2019, 1:25 p.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • KBG syndrome, OMIM:148050
OMIM
611192
Clinvar variants
Variants in ANKRD11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ANKRD11 were changed from KBG; KBG syndrome, 148050 to KBG syndrome, OMIM:148050

14 May 2019, Gel status: 4

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to ANKRD11. Added phenotypes KBG for gene: ANKRD11

8 May 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ANKRD11 were changed from 148050; KBG syndrome to KBG syndrome, 148050

14 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ANKRD11 was added gene: ANKRD11 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD11 were set to 21782149 Phenotypes for gene: ANKRD11 were set to 148050; KBG syndrome