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Research panel - Severe Paediatric Disorders

Gene: AP1S2

Green List (high evidence)
AP1S2 (adaptor related protein complex 1 sigma 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000182287
EnsemblGeneIds (GRCh37): ENSG00000182287
OMIM: 300629, Gene2Phenotype
AP1S2 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AP1S2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, X-linked syndromic 5, 304340 (3); Mode of inheritance: X-linked recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene AP1S2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked syndromic 5, 304340 for gene: AP1S2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked syndromic 5, 304340 for gene: AP1S2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked syndromic 5, 304340 for gene: AP1S2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked syndromic 5, 304340 for gene: AP1S2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to AP1S2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to AP1S2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: AP1S2 was added gene: AP1S2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: AP1S2 was set to