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Amelogenesis imperfecta v4.36 CLDN19 Ida Ertmanska changed review comment from: Comment on list classification: As there are more than 3 unrelated individuals reported in literature with biallelic CLDN19 variants and amelogenesis imperfecta, this gene can be promoted to Green at the next update.; to: Comment on list classification: As there are more than 3 unrelated individuals reported in literature with biallelic CLDN19 variants and amelogenesis imperfecta, this gene can be promoted to Green at the next update. However, since the families come from one study, and no other cases have been reported to date, this gene is tagged for expert review regarding strength of evidence.
Amelogenesis imperfecta v4.36 CLDN19 Ida Ertmanska changed review comment from: As reviewed previously by Sarah and Rebecca, there are 6 unrelated families reported in PMID: 27530400 from 2 different ethnic backgrounds. 4 different variants were detected: p.Arg200Gln, p.Gly20Asp, and p.Leu90Arg, p.Gln57*, and p.Gly20Asp (either comp het or homozygous in each proband).

CLDN19:c.599G>A, p.Arg200Gln has MAF = 0.03402 in gnomAD v4.1.1. It is also categorically classified as Benign in ClinVar.
CLDN19:c.59G>A, p.Gly20Asp has MAF = 0.0003840 in gnomAD v4.1. (no homozygotes). Revel score = 0.89 (Moderate).
CLDN19:c.269T>G, p.Leu90Arg is not found in gnomAD v4.1.1. Revel score = 0.96 (Strong).
CLDN19:c.169C>T, p.Gln57* - not in gnomAD v4.1.1.
Thus, 3/4 variants are plausibly P/LP - 5/6 families can be included in the scoring.

CLDN19 is associated with AR Hypomagnesemia 5, renal, with ocular involvement, OMIM:248190 in OMIM (Accessed 5th June 2026). This gene is also Green on the Amelogenesis imperfecta panel in PanelApp Australia.; to: As reviewed previously by Sarah and Rebecca, there are 6 unrelated families reported in PMID: 27530400 from 2 different ethnic backgrounds. 4 different variants were detected: p.Arg200Gln, p.Gly20Asp, and p.Leu90Arg, p.Gln57*, and p.Gly20Asp (either comp het or homozygous in each proband).

CLDN19:c.599G>A, p.Arg200Gln has MAF = 0.03402 in gnomAD v4.1.1. It is also categorically classified as Benign in ClinVar.
CLDN19:c.59G>A, p.Gly20Asp has MAF = 0.0003840 in gnomAD v4.1. (no homozygotes). Revel score = 0.89 (Moderate).
CLDN19:c.269T>G, p.Leu90Arg is not found in gnomAD v4.1.1. Revel score = 0.96 (Strong).
CLDN19:c.169C>T, p.Gln57* - not in gnomAD v4.1.1.
Thus, 3/4 variants are plausibly P/LP - 5/6 families can be included in the scoring.

CLDN19 is associated with AR Hypomagnesemia 5, renal, with ocular involvement, OMIM:248190 in OMIM (Accessed 5th June 2026). This gene is also Green on the Amelogenesis imperfecta panel in PanelApp Australia.
Amelogenesis imperfecta v4.36 CLDN19 Ida Ertmanska Tag Q2_26_expert_review tag was added to gene: CLDN19.
Amelogenesis imperfecta v4.36 CLDN19 Ida Ertmanska Phenotypes for gene: CLDN19 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to Hypomagnesemia 5, renal, with ocular involvement, OMIM:248190
Amelogenesis imperfecta v4.35 CLDN19 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: CLDN19.
Amelogenesis imperfecta v4.35 CLDN19 Ida Ertmanska commented on gene: CLDN19: Comment on list classification: As there are more than 3 unrelated individuals reported in literature with biallelic CLDN19 variants and amelogenesis imperfecta, this gene can be promoted to Green at the next update.
Amelogenesis imperfecta v4.35 CLDN19 Ida Ertmanska changed review comment from: As reviewed previously by Sarah and Rebecca, there are 6 unrelated families reported in PMID: 27530400 from 2 different ethnic backgrounds. 4 different variants were detected: p.Arg200Gln, p.Gly20Asp, and p.Leu90Arg, p.Gln57*, and p.Gly20Asp (either comp het or homozygous in each proband).

CLDN19:c.599G>A, p.Arg200Gln has MAF = 0.03402 in gnomAD v4.1.1. It is also categorically classified as Benign in ClinVar.
CLDN19:c.59G>A, p.Gly20Asp has MAF = 0.0003840 in gnomAD v4.1. (no homozygotes). Revel score = 0.89 (Moderate).
CLDN19:c.269T>G, p.Leu90Arg is not found in gnomAD v4.1.1. Revel score = 0.96 (Strong).
CLDN19:c.169C>T, p.Gln57* - not in gnomAD v4.1.1.
Thus, 3/4 variants are plausibly P/LP - 5/6 families can be included in the scoring.

CLDN19 is associated with AR Hypomagnesemia 5, renal, with ocular involvement, OMIM:248190 in OMIM (Accessed 5th June 2026).; to: As reviewed previously by Sarah and Rebecca, there are 6 unrelated families reported in PMID: 27530400 from 2 different ethnic backgrounds. 4 different variants were detected: p.Arg200Gln, p.Gly20Asp, and p.Leu90Arg, p.Gln57*, and p.Gly20Asp (either comp het or homozygous in each proband).

CLDN19:c.599G>A, p.Arg200Gln has MAF = 0.03402 in gnomAD v4.1.1. It is also categorically classified as Benign in ClinVar.
CLDN19:c.59G>A, p.Gly20Asp has MAF = 0.0003840 in gnomAD v4.1. (no homozygotes). Revel score = 0.89 (Moderate).
CLDN19:c.269T>G, p.Leu90Arg is not found in gnomAD v4.1.1. Revel score = 0.96 (Strong).
CLDN19:c.169C>T, p.Gln57* - not in gnomAD v4.1.1.
Thus, 3/4 variants are plausibly P/LP - 5/6 families can be included in the scoring.

CLDN19 is associated with AR Hypomagnesemia 5, renal, with ocular involvement, OMIM:248190 in OMIM (Accessed 5th June 2026). This gene is also Green on the Amelogenesis imperfecta panel in PanelApp Australia.
Amelogenesis imperfecta v4.35 CLDN19 Ida Ertmanska reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27530400; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta CLDN19 Sarah Leigh marked CLDN19 as ready
Amelogenesis imperfecta CLDN19 Sarah Leigh classified CLDN19 as Amber List (moderate evidence)
Amelogenesis imperfecta CLDN19 Rebecca Foulger commented on CLDN19