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Research panel - Severe Paediatric Disorders

Gene: TMEM231

Green List (high evidence)
TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 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: TMEM231; Recommended initial gene rating: Green List (high evidence); Phenotypes: Joubert syndrome 20, 614970 (3) | Meckel syndrome 11, 615397 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TMEM231 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Meckel syndrome 11, 615397; Joubert syndrome 20, 614970 for gene: TMEM231

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TMEM231 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TMEM231.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TMEM231. 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: TMEM231 was added gene: TMEM231 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TMEM231 was set to