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Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SEC63.
Tag Q3_23_NHS_review tag was added to gene: SEC63.
Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Classified gene: SEC63 as Amber List (moderate evidence)
Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ian Berry, this gene should be considered for green rating in this panel in the next GMS review as there are sufficient cases of polycystic liver disease 2 with both renal and hepatic cysts.
Cystic kidney disease v4.15 SEC63 Achchuthan Shanmugasundram Gene: sec63 has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v4.14 SEC63 Achchuthan Shanmugasundram Publications for gene: SEC63 were set to 15133510,
Cystic kidney disease v4.13 SEC63 Achchuthan Shanmugasundram Publications for gene: SEC63 were set to
Cystic kidney disease v4.12 SEC63 Achchuthan Shanmugasundram Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Cystic kidney disease v4.11 SEC63 Achchuthan Shanmugasundram Mode of inheritance for gene: SEC63 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.10 SEC63 Achchuthan Shanmugasundram reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886261; Phenotypes: Polycystic liver disease 2 with or without kidney cysts, OMIM:617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.6 SEC63 Ian Berry changed review comment from: Phenotype is predominantly hepatic but can involve renal cysts.

We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.; to: Phenotype is predominantly hepatic but can involve renal cysts.

We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.

OMIM disorder name is polycystic liver disease-2 with or without kidney cysts (PCLD2)
Cystic kidney disease v4.6 SEC63 Ian Berry reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v2.0 ALG8 Eleanor Williams changed review comment from: Associated with Polycystic liver disease 3 with or without kidney cysts, 617874 (AD) in OMIM.

PMID: 28375157 - Besse et al 2017 - report 5 probands with 3 different heterozygous variants in ALG8 and liver cysts. 4 of the probands also had between 1 and 9 kidney cysts (1, at least 3, 3-4 and 9). 3 of the probands share the same c.1090C>T, p.R364X variant, but the shared haplotype block among any 2 of these individuals is approximately 87 kb which is too small to be indicative of a cryptic relationship between any of the probands and instead suggests that the mutation in each arose independently.

PMID: 30135240 - Lanktree et al 2018 - looked for rare variants in gnomAD and BRAVO in genes involved in ADPKD (PKD1, PKD2), ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5). ADPLD protein truncating variants in ALG8 are found in 1 in 1,429 people in these two databases. But this paper does not give numbers of people with ADPLD or if those people also have kidney cysts.

Will check with the Genomics England clinical team whether the level of kidney cysts seen in Besse et al is sufficient to rate this gene green on the panel. ; to: Associated with Polycystic liver disease 3 with or without kidney cysts, 617874 (AD) in OMIM.

PMID: 28375157 - Besse et al 2017 - report 5 probands with 3 different heterozygous variants in ALG8 and liver cysts. 4 of the probands also had between 1 and 9 kidney cysts (1, at least 3, 3-4 and 9). 3 of the probands share the same c.1090C>T, p.R364X variant, but the shared haplotype block among any 2 of these individuals is approximately 87 kb which is too small to be indicative of a cryptic relationship between any of the probands and instead suggests that the mutation in each arose independently. The proband with 3-4 kidney cysts has a daughter who shares the ALG8 variants and who has no liver cysts but 8 kidney cysts.

PMID: 30135240 - Lanktree et al 2018 - looked for rare variants in gnomAD and BRAVO in genes involved in ADPKD (PKD1, PKD2), ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5). ADPLD protein truncating variants in ALG8 are found in 1 in 1,429 people in these two databases. But this paper does not give numbers of people with ADPLD or if those people also have kidney cysts.
Cystic kidney disease v2.0 ALG8 Eleanor Williams changed review comment from: Associated with Polycystic liver disease 3 with or without kidney cysts, 617874 (AD) in OMIM.

PMID: 28375157 - Besse et al 2017 - report 5 probands with 3 different heterozygous variants in ALG8 and liver cysts. 4 of the probands also had between 1 and 9 kidney cysts. 3 of the probands share the same c.1090C>T, p.R364X variant, but the shared haplotype block among any 2 of these individuals is approximately 87 kb which is too small to be indicative of a cryptic relationship between any of the probands and instead suggests that the mutation in each arose independently.

PMID: 30135240 - Lanktree et al 2018 - looked for rare variants in gnomAD and BRAVO in genes involved in ADPKD (PKD1, PKD2), ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5). ADPLD protein truncating variants in ALG8 are found in 1 in 1,429 people in these two databases. But this paper does not give numbers of people with ADPLD or if those people also have kidney cysts.

Will check with the Genomics England clinical team whether the level of kidney cysts seen in Besse et al is sufficient to rate this gene green on the panel. ; to: Associated with Polycystic liver disease 3 with or without kidney cysts, 617874 (AD) in OMIM.

PMID: 28375157 - Besse et al 2017 - report 5 probands with 3 different heterozygous variants in ALG8 and liver cysts. 4 of the probands also had between 1 and 9 kidney cysts (1, at least 3, 3-4 and 9). 3 of the probands share the same c.1090C>T, p.R364X variant, but the shared haplotype block among any 2 of these individuals is approximately 87 kb which is too small to be indicative of a cryptic relationship between any of the probands and instead suggests that the mutation in each arose independently.

PMID: 30135240 - Lanktree et al 2018 - looked for rare variants in gnomAD and BRAVO in genes involved in ADPKD (PKD1, PKD2), ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5). ADPLD protein truncating variants in ALG8 are found in 1 in 1,429 people in these two databases. But this paper does not give numbers of people with ADPLD or if those people also have kidney cysts.

Will check with the Genomics England clinical team whether the level of kidney cysts seen in Besse et al is sufficient to rate this gene green on the panel.
Cystic kidney disease v2.0 ALG8 Eleanor Williams changed review comment from: Associated with Polycystic liver disease 3 with or without kidney cysts, 617874 (AD) in OMIM.

PMID: 28375157 - Besse et al 2017 - report 5 probands with 3 different heterozygous variants in ALG8 and liver cysts. 4 of the probands also had between 1 and 9 kidney cysts. 3 of the probands share the same c.1090C>T, p.R364X variant, but the shared haplotype block among any 2 of these individuals is approximately 87 kb which is too small to be indicative of a cryptic relationship between any of the probands and instead suggests that the mutation in each arose independently.

PMID: 30135240 - Lanktree et al 2018 - looked for rare variants in gnomAD and BRAVO in genes involved in ADPKD (PKD1, PKD2), ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5). ADPLD protein truncating variants in ALG8 are found in 1 in 1,429 people in these two databases. But this paper does not give numbers of people with ADPLD or if those people also have kidney cysts.; to: Associated with Polycystic liver disease 3 with or without kidney cysts, 617874 (AD) in OMIM.

PMID: 28375157 - Besse et al 2017 - report 5 probands with 3 different heterozygous variants in ALG8 and liver cysts. 4 of the probands also had between 1 and 9 kidney cysts. 3 of the probands share the same c.1090C>T, p.R364X variant, but the shared haplotype block among any 2 of these individuals is approximately 87 kb which is too small to be indicative of a cryptic relationship between any of the probands and instead suggests that the mutation in each arose independently.

PMID: 30135240 - Lanktree et al 2018 - looked for rare variants in gnomAD and BRAVO in genes involved in ADPKD (PKD1, PKD2), ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5). ADPLD protein truncating variants in ALG8 are found in 1 in 1,429 people in these two databases. But this paper does not give numbers of people with ADPLD or if those people also have kidney cysts.

Will check with the Genomics England clinical team whether the level of kidney cysts seen in Besse et al is sufficient to rate this gene green on the panel.