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Pigmentary skin disorders v4.21 SNAI2 Achchuthan Shanmugasundram changed review comment from: PMID:12444107 (2002) reported the identification of homozygous deletions in SNAI2 gene (previous gene name: SLUG) in two unrelated patients with Waardenburg syndrome type 2 (WS2). The first patient was reported with profound bilateral sensorineural hearing loss and heterochromia iridis, while the second patient presented with 60 dB hearing loss and unilateral heterochromia. Neither of the patients were reported with any pigmentary abnormalities of the skin.

PMID:12955764 (2003) reported Southern blot analysis of the SNAI2 (SLUG) gene in 17 unrelated patients with piebaldism, who lacked apparent KIT mutations. Three patients had evident heterozygous deletions of the SNAI2 gene encompassing the entire coding region. However, Celia Moss (one of the co-authors of this publication) reviewed below that one of the reported patients was from her and it was identified from further investigation that this patient had a KIT mutation and not SNAI2.

PMID:24443330 (2014) reported a female patient of Chinese descent with a SNAI2 5'UTR variant and a recurrent EDA1 variant. The patient presented with a mild form of piebaldism and a severe form of X-linked hypohidrotic ectodermal dysplasia.

PMID:30936914 (2019) reported a 90-patient WS cohort from which two novel heterozygous variants in SNAI2 gene were identified in one patient each. One of these patients were reported with WS2 and other with WS4, and both presented with heterochromia irides and hearing loss. Both the detected SNAI2 variants (c.230C>G and c.365C>T) were not considered causative due to their frequency (>1/10000) in the population database.

PMID:41073431 (2025) reported a family of Chinese descent with WS and with a pathogenic heterozygous SNAI2 variant (c.230C>G). All four adolescents from the family (third generation) presented moderate to severe ID, along with severe anxiety, mild level of depression, and serious social dysfunction. But they did not show any signs of hearing loss and heterochromia iris, which are considered features of WS.

This gene has not yet been associated with any relevant phenotypes in OMIM (last accessed 29 April 2026), but recessive variants are associated with 'limited' rating by Hearing Loss GCEP in ClinGen.; to: PMID:12444107 (2002) reported the identification of homozygous deletions in SNAI2 gene (previous gene name: SLUG) in two unrelated patients with Waardenburg syndrome type 2 (WS2). The first patient was reported with profound bilateral sensorineural hearing loss and heterochromia iridis, while the second patient presented with 60 dB hearing loss and unilateral heterochromia. Neither of the patients were reported with any pigmentary abnormalities of the skin.

PMID:12955764 (2003) reported Southern blot analysis of the SNAI2 (SLUG) gene in 17 unrelated patients with piebaldism, who lacked apparent KIT mutations. Three patients had evident heterozygous deletions of the SNAI2 gene encompassing the entire coding region. However, Celia Moss (one of the co-authors of this publication) reviewed below that one of the reported patients was from her and it was identified from further investigation that this patient had a KIT mutation and not SNAI2.

PMID:24443330 (2014) reported a female patient of Chinese descent with a SNAI2 5'UTR variant and a recurrent EDA1 variant. The patient presented with a mild form of piebaldism and a severe form of X-linked hypohidrotic ectodermal dysplasia.

PMID:30936914 (2019) reported a 90-patient WS cohort from which two novel heterozygous variants in SNAI2 gene were identified in one patient each. One of these patients were reported with WS2 and other with WS4, and both presented with heterochromia irides and hearing loss. Both the detected SNAI2 variants (c.230C>G and c.365C>T) were not considered causative due to their frequency (>1/10000) in the population database.

PMID:41073431 (2025) reported a family of Chinese descent with WS and with a pathogenic heterozygous SNAI2 variant (c.230C>G). All four adolescents from the family (third generation) presented moderate to severe ID, along with severe anxiety, mild level of depression, and serious social dysfunction. But they did not show any signs of hearing loss or heterochromia iris, which are considered features of WS.

This gene has not yet been associated with any relevant phenotypes in OMIM (last accessed 29 April 2026), but recessive variants are associated with 'limited' rating by Hearing Loss GCEP in ClinGen.
Pigmentary skin disorders v4.21 SNAI2 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: SNAI2.
Pigmentary skin disorders v4.21 SNAI2 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are three unrelated patients reported with monoallelic SNAI2 variants (excluding the family from Celia Moss, who has later been identified with KIT variant) and piebaldism (mild in the patient reported in PMID:24443330, who also had EDA1 variant). However, all three families reported with heterozygous variants in the recent literature (PMIDs: 30936914; 41073431) presented with Waardenburg syndrome (variants from two cases from PMID:30936914 had higher frequencies in population databases) and did not have any phenotype relevant to pigmentary skin disorders.

There are two unrelated patients reported with homozygous SNAI2 deletions and with Waardenburg syndrome. These patients presented with hearing loss and heterochromia iridis and not with any skin pigmentation phenotypes.

The MOI should therefore be updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' as the patients with biallelic variants did not present with any skin pigmentation phenotypes.

The rating should remain amber as none of the recent monoallelic cases had piebaldism and the earlier cases with piebaldism were identified with SNAI2 deletion/variants via Southern blots/ single gene sequencing. The 'watchlist' tag has been added for reviewing this gene with new evidence in the future.
Pigmentary skin disorders v4.21 SNAI2 Achchuthan Shanmugasundram Mode of inheritance for gene: SNAI2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v4.20 SNAI2 Achchuthan Shanmugasundram Phenotypes for gene: SNAI2 were changed from Piebaldism to Waardenburg syndrome type 2, MONDO:0019517; piebaldism, MONDO:0008244
Pigmentary skin disorders v4.19 SNAI2 Achchuthan Shanmugasundram Publications for gene: SNAI2 were set to
Pigmentary skin disorders v4.18 SNAI2 Achchuthan Shanmugasundram changed review comment from: PMID:12444107 (2002) reported the identification of homozygous deletions in SNAI2 gene (previous gene name: SLUG) in two unrelated patients with Waardenburg syndrome type 2 (WS2). The first patient was reported with profound bilateral sensorineural hearing loss and heterochromia iridis, while the second patient presented with 60 dB hearing loss and unilateral heterochromia. Neither of the patients were reported with any pigmentary abnormalities of the skin.

PMID:12955764 (2003) reported Southern blot analysis of the SNAI2 (SLUG) gene in 17 unrelated patients with piebaldism, who lacked apparent KIT mutations. Three patients had evident heterozygous deletions of the SNAI2 gene encompassing the entire coding region. However, Celia Moss (one of the co-authors of this publication) reviewed below that one of the reported patients was from her and it was identified from further investigation that this patient had a KIT mutation and not SNAI2.

PMID:24443330 (2014) reported a female patient of Chinese descent with a SNAI2 5'UTR variant and a recurrent EDA1 variant. The patient presented with a mild form of piebaldism and a severe form of X-linked hypohidrotic ectodermal dysplasia.

PMID:30936914 (2019) reported a 90-patient WS cohort from which two novel heterozygous variants in SNAI2 gene were identified in one patient each. Both the detected SNAI2 variants (c.230C>G and c.365C>T) were not considered causative due to their frequency (>1/10000) in the population database.

PMID:41073431 (2025) reported a family of Chinese descent with WS and with a pathogenic heterozygous SNAI2 variant (c.230C>G). All four adolescents from the family (third generation) presented moderate to severe ID, along with severe anxiety, mild level of depression, and serious social dysfunction. But they did not show any signs of hearing loss and heterochromia iris, which are considered features of WS.

This gene has not yet been associated with any relevant phenotypes in OMIM (last accessed 29 April 2026), but recessive variants are associated with 'limited' rating by Hearing Loss GCEP in ClinGen.; to: PMID:12444107 (2002) reported the identification of homozygous deletions in SNAI2 gene (previous gene name: SLUG) in two unrelated patients with Waardenburg syndrome type 2 (WS2). The first patient was reported with profound bilateral sensorineural hearing loss and heterochromia iridis, while the second patient presented with 60 dB hearing loss and unilateral heterochromia. Neither of the patients were reported with any pigmentary abnormalities of the skin.

PMID:12955764 (2003) reported Southern blot analysis of the SNAI2 (SLUG) gene in 17 unrelated patients with piebaldism, who lacked apparent KIT mutations. Three patients had evident heterozygous deletions of the SNAI2 gene encompassing the entire coding region. However, Celia Moss (one of the co-authors of this publication) reviewed below that one of the reported patients was from her and it was identified from further investigation that this patient had a KIT mutation and not SNAI2.

PMID:24443330 (2014) reported a female patient of Chinese descent with a SNAI2 5'UTR variant and a recurrent EDA1 variant. The patient presented with a mild form of piebaldism and a severe form of X-linked hypohidrotic ectodermal dysplasia.

PMID:30936914 (2019) reported a 90-patient WS cohort from which two novel heterozygous variants in SNAI2 gene were identified in one patient each. One of these patients were reported with WS2 and other with WS4, and both presented with heterochromia irides and hearing loss. Both the detected SNAI2 variants (c.230C>G and c.365C>T) were not considered causative due to their frequency (>1/10000) in the population database.

PMID:41073431 (2025) reported a family of Chinese descent with WS and with a pathogenic heterozygous SNAI2 variant (c.230C>G). All four adolescents from the family (third generation) presented moderate to severe ID, along with severe anxiety, mild level of depression, and serious social dysfunction. But they did not show any signs of hearing loss and heterochromia iris, which are considered features of WS.

This gene has not yet been associated with any relevant phenotypes in OMIM (last accessed 29 April 2026), but recessive variants are associated with 'limited' rating by Hearing Loss GCEP in ClinGen.
Pigmentary skin disorders v4.18 SNAI2 Achchuthan Shanmugasundram reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 12955764, 24443330, 30936914, 41073431; Phenotypes: Waardenburg syndrome type 2, MONDO:0019517, piebaldism, MONDO:0008244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v4.13 SNAI2 Veronica Kinsler reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444107, 12955764, 30936914; Phenotypes: Waardenburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.26 SNAI2 Celia Moss reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 SNAI2 Tom Cullup reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.24 SNAI2 Catherine Snow Classified gene: SNAI2 as Amber List (moderate evidence)
Pigmentary skin disorders v0.24 SNAI2 Catherine Snow Gene: snai2 has been classified as Amber List (Moderate Evidence).
Pigmentary skin disorders v0.23 SNAI2 Catherine Snow reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pigmentary skin disorders v0.8 SNAI2 Rebecca Foulger Source London North GLH was added to SNAI2.
Pigmentary skin disorders v0.4 SNAI2 Rebecca Foulger reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.3 SNAI2 Rebecca Foulger gene: SNAI2 was added
gene: SNAI2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAI2 were set to Piebaldism