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Autism

Gene: ADNP

Green List (high evidence)

ADNP (activity dependent neuroprotector homeobox)
EnsemblGeneIds (GRCh38): ENSG00000101126
EnsemblGeneIds (GRCh37): ENSG00000101126
OMIM: 611386, Gene2Phenotype
ADNP is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/ADNP Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder. The number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 15 / 29
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • Helsmoortel-Van der Aa syndrome
  • ID, EPS, DD/NDD, ASD
OMIM
611386
Clinvar variants
Variants in ADNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ADNP were changed from 22495309; 23160955; 25363760; 24531329; 26401017 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

1 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Helsmoortel-Van der Aa syndrome; ID, EPS, DD/NDD, ASD for gene: ADNP

29 Mar 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ADNP were changed from to 22495309; 23160955; 25363760; 24531329; 26401017

29 Mar 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ADNP. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ADNP was added gene: ADNP was added to Autism. Sources: SFARI Mode of inheritance for gene: ADNP was set to