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  3. CHMP1A
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Fetal anomalies

Gene: CHMP1A

Green List (high evidence)
CHMP1A (charged multivesicular body protein 1A)
EnsemblGeneIds (GRCh38): ENSG00000131165
EnsemblGeneIds (GRCh37): ENSG00000131165
OMIM: 164010, Gene2Phenotype
CHMP1A is in 10 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 11:31 a.m. | Last Modified: 1 Feb 2021, 11:31 a.m.
Panel Version: 1.344
Created: 1 Feb 2021, 11:31 a.m.
Last Modified: 1 Feb 2021, 11:31 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia
Created: 29 Jan 2021, 11:52 a.m. | Last Modified: 29 Jan 2021, 11:52 a.m.
Panel Version: 1.229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 8, 614961

Created: 29 Jan 2021, 11:52 a.m.
Last Modified: 29 Jan 2021, 11:52 a.m.
Panel version: 1.229

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Pontocerebellar hypoplasia, type 8, OMIM:614961
  • Pontocerebellar hypoplasia type 8, MONDO:0013990
OMIM
164010
Clinvar variants
Variants in CHMP1A
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: CHMP1A.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CHMP1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CHMP1A were changed from PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY to Pontocerebellar hypoplasia, type 8, OMIM:614961; Pontocerebellar hypoplasia type 8, MONDO:0013990

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chmp1a has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: CHMP1A.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CHMP1A was added gene: CHMP1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY