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Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases and some functional evidence reported in support of the association of LAS1L gene with SMARD-like phenotype. Karen Stals reported in her review that there is an additional case in Exeter, but the variant is of uncertain significance.

Hence, this gene should be rated amber with the current evidence.

However, 'watchlist' tag added so that this gene will be reviewed in light of new evidence.; to: Comment on list classification: There are two unrelated cases and some functional evidence reported in support of the association of LAS1L gene with SMARD-like phenotype. Karen Stals reported in her review that there is an additional case in Exeter, but the variant is of uncertain significance. Hence, this gene should be rated amber with the current evidence.

However, 'watchlist' tag added so that this gene will be reviewed in light of new evidence.
Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases and some functional evidence reported in support of the association of LAS1L gene with SMARD-like phenotype. The main phenotype reported for this gene is syndromic intellectual disability (Wilson-Turner syndrome, MIM# 309585).

Karen Stals reported in her review that there is an additional case in Exeter, but the variant is of uncertain significance.

Hence, this gene should be rated amber with the current evidence.

However, 'watchlist' tag added so that this gene will be reviewed in light of new evidence.; to: Comment on list classification: There are two unrelated cases and some functional evidence reported in support of the association of LAS1L gene with SMARD-like phenotype. Karen Stals reported in her review that there is an additional case in Exeter, but the variant is of uncertain significance.

Hence, this gene should be rated amber with the current evidence.

However, 'watchlist' tag added so that this gene will be reviewed in light of new evidence.
Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases and some functional evidence reported in support of the association of LAS1L gene with SMARD-like phenotype. The main phenotype reported for this gene is syndromic intellectual disability (Wilson-Turner syndrome, MIM# 309585). Hence, this gene should be rated amber with the current evidence.

However, 'watchlist' tag added so that this gene will be reviewed in light of new evidence.; to: Comment on list classification: There are two unrelated cases and some functional evidence reported in support of the association of LAS1L gene with SMARD-like phenotype. The main phenotype reported for this gene is syndromic intellectual disability (Wilson-Turner syndrome, MIM# 309585).

Karen Stals reported in her review that there is an additional case in Exeter, but the variant is of uncertain significance.

Hence, this gene should be rated amber with the current evidence.

However, 'watchlist' tag added so that this gene will be reviewed in light of new evidence.
Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram changed review comment from: LAS1L is associated with Wilson-Turner syndrome, which is a syndromic intellectual developmental disorder in OMIM (MIM #309585, last accessed 26 July 2026).

PMID:24647030 (2014) reported the identification of a de novo hemizygous missense variant (c.1430G>A, p.Ser477Asn) in a male neonate proband with fatal congenital spinal muscular atrophy with respiratory distress (SMARD)-like motor neuron disease. There is supporting evidence available from zebrafish rescue experiments.

PMID:35627110 (2022) reported the identification of a novel hemizygous synonymous variant in the LAS1L gene inherited from an unaffected mother (c.846G>C, p.Thr282=) in an eighteen-month old male patient with a SMARD phenotype. Maternal fibroblasts showed no coding-region transcript, suggesting skewed X-inactivation silencing the variant allele in her cells.; to: LAS1L is associated with Wilson-Turner syndrome, which is a syndromic intellectual developmental disorder in OMIM (MIM #309585, last accessed 26 July 2026).

PMID:24647030 (2014) reported the identification of a de novo hemizygous missense variant (c.1430G>A, p.Ser477Asn) in a male neonate proband with fatal congenital spinal muscular atrophy with respiratory distress (SMARD)-like motor neuron disease. There is supporting evidence available from zebrafish rescue experiments.

PMID:35627110 (2022) reported the identification of a novel hemizygous synonymous variant in the LAS1L gene inherited from an unaffected mother (c.846G>C, p.Thr282=) in an eighteen-month old male patient with a SMARD phenotype. Maternal fibroblasts showed no coding-region transcript, suggesting skewed X-inactivation silencing the variant allele in her cells.
Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram Tag watchlist tag was added to gene: LAS1L.
Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram Classified gene: LAS1L as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and some functional evidence reported in support of the association of LAS1L gene with SMARD-like phenotype. The main phenotype reported for this gene is syndromic intellectual disability (Wilson-Turner syndrome, MIM# 309585). Hence, this gene should be rated amber with the current evidence.

However, 'watchlist' tag added so that this gene will be reviewed in light of new evidence.
Hereditary neuropathy or pain disorder v8.21 LAS1L Achchuthan Shanmugasundram Gene: las1l has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v8.20 LAS1L Achchuthan Shanmugasundram Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, OMIM:309585; Spinal muscular atrophy with respiratory distress (SMARD)-like motor neuron disease
Hereditary neuropathy or pain disorder v8.19 LAS1L Achchuthan Shanmugasundram edited their review of gene: LAS1L: Changed phenotypes to: Wilson-Turner syndrome, OMIM:309585, Spinal muscular atrophy with respiratory distress (SMARD)-like motor neuron disease
Hereditary neuropathy or pain disorder v8.19 LAS1L Achchuthan Shanmugasundram Publications for gene: LAS1L were set to 24647030
Hereditary neuropathy or pain disorder v8.18 LAS1L Achchuthan Shanmugasundram Mode of inheritance for gene: LAS1L was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v8.17 LAS1L Achchuthan Shanmugasundram reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 24647030, 35627110; Phenotypes: Wilson-Turner syndrome, OMIM:309585, motor neuron disorder, MONDO:0020128; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary neuropathy or pain disorder v8.4 LAS1L Karen Stals reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35627110, PMID: 24647030; Phenotypes: SMARD-like, respiratory distress, apnoea, hypotonia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v0.1 LAS1L Ellen McDonagh gene: LAS1L was added
gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAS1L were set to 24647030