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Fetal anomalies

Gene: CLN5

Red List (low evidence)

CLN5 (CLN5, intracellular trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000102805
EnsemblGeneIds (GRCh37): ENSG00000102805
OMIM: 608102, Gene2Phenotype
CLN5 is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Kept rating of CLN5 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
Created: 12 Aug 2019, 10:43 a.m. | Last Modified: 12 Aug 2019, 10:43 a.m.
Panel Version: 0.331
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN5 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for NEURONAL CEROID LIPOFUSCINOSIS TYPE 5
Created: 11 Dec 2018, 9:04 a.m.

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to CLN5. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CLN5 was added gene: CLN5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5