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  3. AIP
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Coarse facial features including Coffin-Siris-like disorders

Gene: AIP

Red List (low evidence)
AIP (aryl hydrocarbon receptor interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000110711
EnsemblGeneIds (GRCh37): ENSG00000110711
OMIM: 605555, Gene2Phenotype
AIP is in 5 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Not relevant to this gene panel -familial acromegaly rather than Coffin Siris -like disorder
Created: 23 Nov 2016, 10:20 a.m.
Created: 23 Nov 2016, 10:20 a.m.

Panel version: 0.51

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acromegaly due to pituitary ademona 1; Growth hormone secreting pituitary adenoma (102200)

Publications

Created: 30 Jan 2016, 2:04 p.m.

Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Acromegaly
  • Growth hormone secreting pituitary adenoma
OMIM
605555
Clinvar variants
Variants in AIP
Penetrance
Complete
Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

30 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

AIP was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN

30 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

AIP was created by alicegardham