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Mosaic skin disorders - deep sequencing v3.27 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Mosaic skin disorders - deep sequencing v3.26 Ida Ertmanska Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Mosaic skin disorders - deep sequencing v3.25 MVK Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: MVK.
Mosaic skin disorders - deep sequencing v3.25 MVK Ida Ertmanska edited their review of gene: MVK: Added comment: Comment on list classification: There are at least 9 unrelated families reported in literature with porokeratosis / disseminated superficial actinic porokeratosis (DSAP), with heterozygous germline mutations in MVK, with confirmed postnatal second-hit mosaic MVK mutation in 2 cases. Other genes in the pathway have been implicated in porokeratosis. Based on available evidence, this gene should be promoted to Green for Mosaic skin disorders - deep sequencing.; Changed rating: GREEN
Mosaic skin disorders - deep sequencing v3.25 MVK Ida Ertmanska Phenotypes for gene: MVK were changed from Porokeratosis 3, multiple types, OMIM:175900 to Porokeratosis 3, multiple types, OMIM:175900; porokeratosis 3, disseminated superficial actinic type, MONDO:0008293
Mosaic skin disorders - deep sequencing v3.24 MVK Ida Ertmanska Publications for gene: MVK were set to 24781643
Mosaic skin disorders - deep sequencing v3.23 MVK Ida Ertmanska Classified gene: MVK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v3.23 MVK Ida Ertmanska Gene: mvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v3.22 MVK Ida Ertmanska Tag curated_removed was removed from gene: MVK.
Mosaic skin disorders - deep sequencing v3.22 MVK Ida Ertmanska reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: None; Publications: 22983302, 26794421, 31207227, 31753123, 39386107; Phenotypes: Porokeratosis 3, multiple types, OMIM:175900, porokeratosis 3, disseminated superficial actinic type, MONDO:0008293; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.22 TP63 Arina Puzriakova Tag watchlist was removed from gene: TP63.
Mosaic skin disorders - deep sequencing v3.22 GJA1 Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v3.21 GJA1 Arina Puzriakova Publications for gene: GJA1 were set to PMID:
Mosaic skin disorders - deep sequencing v3.20 TSC2 Ida Ertmanska Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, OMIM: 613254; tuberous sclerosis 2, MONDO:0013199
Mosaic skin disorders - deep sequencing v3.19 TSC2 Ida Ertmanska Publications for gene: TSC2 were set to PMID: 37356622
Mosaic skin disorders - deep sequencing v3.18 TSC2 Ida Ertmanska Mode of inheritance for gene: TSC2 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.17 TSC2 Ida Ertmanska Classified gene: TSC2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v3.17 TSC2 Ida Ertmanska Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v3.16 TSC2 Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TSC2.
Tag Q4_25_NHS_review tag was added to gene: TSC2.
Mosaic skin disorders - deep sequencing v3.16 TSC2 Ida Ertmanska commented on gene: TSC2: Comment on list classification: There are numerous individuals reported in literature diagnosed with Tuberous sclerosis complex, harbouring heterozygous mosaic TSC2 variants. Variants are sometimes detected in skin biopsy samples only - not in blood or saliva. Deep sequencing of multiple patient samples is advised, as the variants often occur at very low frequencies (down to <1%). Based on the available evidence, TSC2 should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.16 TSC2 Ida Ertmanska reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26540169, 31160751, 31114024, 32461669, 37141891, 37356622; Phenotypes: Tuberous sclerosis-2, OMIM: 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.16 TSC1 Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported in literature diagnosed with Tuberous sclerosis complex, harbouring heterozygous mosaic TSC1 variants. Deep sequencing of multiple patient samples is advised, as the variants often occur at very low frequencies (3-5%). Variants may be detected in skin biopsy samples but not in blood or saliva. Based on the available evidence, TSC1 should be promoted to Green for Mosaic skin disorders - deep sequencing.; to: Comment on list classification: There are numerous individuals reported in literature diagnosed with Tuberous sclerosis complex, harbouring heterozygous mosaic TSC1 variants. Deep sequencing of multiple patient samples is advised, as the variants often occur at very low frequencies (3-5%). Variants are sometimes detected in skin biopsy samples only - not in blood or saliva. Based on the available evidence, TSC1 should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.16 TSC1 Ida Ertmanska changed review comment from: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, and shagreen patch (PMID: 37141891).

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%).
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of 53 patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method. All 53 TSC patients had skin involvement.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).; to: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, and shagreen patch (PMID: 37141891).

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%). Variants are sometimes detected in skin biopsy samples only - not in blood or saliva.
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of 53 patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method. All 53 TSC patients had skin involvement.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).
Mosaic skin disorders - deep sequencing v3.16 TSC1 Ida Ertmanska Deleted their comment
Mosaic skin disorders - deep sequencing v3.16 TSC1 Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported in literature diagnosed with Tuberous sclerosis complex, harbouring mosaic TSC1 variants. Deep sequencing of multiple patient samples is advised, as the variants often occur at very low frequencies (3-5%). Variants may be detected in skin biopsy samples but not in blood or saliva. Based on the available evidence, TSC1 should be promoted to Green for Mosaic skin disorders - deep sequencing.; to: Comment on list classification: There are numerous individuals reported in literature diagnosed with Tuberous sclerosis complex, harbouring heterozygous mosaic TSC1 variants. Deep sequencing of multiple patient samples is advised, as the variants often occur at very low frequencies (3-5%). Variants may be detected in skin biopsy samples but not in blood or saliva. Based on the available evidence, TSC1 should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.16 TSC1 Ida Ertmanska Phenotypes for gene: TSC1 were changed from Cutaneous pigmentary abnormalities, and/or other aspects of germline TSC disease to Tuberous sclerosis-1, OMIM:191100; tuberous sclerosis 1, MONDO:0008612
Mosaic skin disorders - deep sequencing v3.15 TSC1 Ida Ertmanska Publications for gene: TSC1 were set to PMID: 37356622
Mosaic skin disorders - deep sequencing v3.14 TSC1 Ida Ertmanska Mode of inheritance for gene: TSC1 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.13 TSC1 Ida Ertmanska Added comment: Comment on mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.13 TSC1 Ida Ertmanska Mode of inheritance for gene: TSC1 was changed from Other to Other
Mosaic skin disorders - deep sequencing v3.12 TSC1 Ida Ertmanska Classified gene: TSC1 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v3.12 TSC1 Ida Ertmanska Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v3.11 TSC1 Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TSC1.
Tag Q4_25_NHS_review tag was added to gene: TSC1.
Mosaic skin disorders - deep sequencing v3.11 TSC1 Ida Ertmanska commented on gene: TSC1: Comment on list classification: There are numerous individuals reported in literature diagnosed with Tuberous sclerosis complex, harbouring mosaic TSC1 variants. Deep sequencing of multiple patient samples is advised, as the variants often occur at very low frequencies (3-5%). Variants may be detected in skin biopsy samples but not in blood or saliva. Based on the available evidence, TSC1 should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.11 TSC1 Ida Ertmanska changed review comment from: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, shagreen patch.

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%).
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).; to: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, and shagreen patch (PMID: 37141891).

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%).
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of 53 patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method. All 53 TSC patients had skin involvement.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).
Mosaic skin disorders - deep sequencing v3.11 TSC1 Ida Ertmanska reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26540169, 31160751, 31114024, 32461669, 37141891, 37356622; Phenotypes: Tuberous sclerosis-1, OMIM:191100, tuberous sclerosis 1, MONDO:0008612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.11 TP63 Ida Ertmanska Phenotypes for gene: TP63 were changed from Split hand foot malformation with whorl-like pigmentary pattern to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292
Mosaic skin disorders - deep sequencing v3.10 TP63 Ida Ertmanska Publications for gene: TP63 were set to 18792980
Mosaic skin disorders - deep sequencing v3.9 TP63 Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TP63.
Tag Q4_25_NHS_review tag was added to gene: TP63.
Tag Q4_25_expert_review tag was added to gene: TP63.
Mosaic skin disorders - deep sequencing v3.9 TP63 Ida Ertmanska commented on gene: TP63: Comment on list classification: There is only one reported case of a confirmed mosaic TP63 variant in a parent, which has been passed on to offspring in an autosomal dominant manner (PMID:18792980). PMID: 34703865 reports another individual described as mosaic, but variant details are not specified. Both patients presented with linear hypopigmented patches following Blaschkoid lines - usually indicative of cutaneous mosaicism. In addition, 3 unrelated sets of siblings, harbouring the same rare 'de novo' TP63 mutations, have been described - suggestive of undetected mosaicism in parents (PMIDs: 22740388; 27351625; 28977327). Based on available evidence, this gene will be tagged for promotion to Green on Mosaic skin disorders - deep sequencing. Expert Review will be requested regarding the evidence for mosaicism in four cases (suspected but not confirmed through sequencing).
Mosaic skin disorders - deep sequencing v3.9 TP63 Ida Ertmanska changed review comment from: PMID: 34703865 Chen, Issa and Schmidt, 2021
Report of a 31 yo African American man harbouring a 'TP63 gene copy number variant' (not specified) with a mosaic distribution (ratio not given). Putative diagnosis: ectodermal dysplasia (ED). Phenotype: patterned skin hypopigmentation (including linear hypopigmented patches following Blaschkoid lines), alopecia, and dental anomaly (one hypoplastic, conical tooth). Variant identified through an ED-associated gene panel.

PMID: 28977327 Rosa et al., 2017
3 siblings with Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, parents unaffected. Germline mosaicism hypothesised, but no DNA sequencing described.

PMID: 27351625 Enriquez et al., 2016
Report of two sibling fetuses with urogenital abnormalities, split hand and foot malformation, and bilateral cleft lip and palate. Both het for c.1051G > A; p.D351N in TP63. Both parents were unaffected. 'Parental lymphocyte DNA showed no evidence of the TP63 mutation but germline mosaicism in a parent is assumed' - only TP63 sequenced, parents are WT. Mosaicism presumed due to recurrence in the two siblings. The same missense mutation was reported de novo in other families (PMID: 21434540 Ergin et al., 2010 and PMID: 16691622 Rinne et al., 2006).

PMID: 22740388 Barbaro et al., 2012
Two sisters with Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Both sisters were heterozygous for TP63 c.1568T>C p.L523P (NM_003722.5: c.1574T>C, p.Leu525Pro) - not in gnomAD v4.1.0. Parental DNA analysis (blood, father's seminal fluid and mother's buccal, vaginal, and cervical cells) did not reveal the mutation. Authors pose that the apparently de novo variant was actually inherited through very low grade somatic mosaicism or maternal gonadal mosaicism.

PMID: 18792980 Kosaki et al., 2008


TP63 is associated with several AD conditions in OMIM, including Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM:604292 (accessed 3rd Dec 2025).; to: PMID: 34703865 Chen, Issa and Schmidt, 2021
Report of a 31 yo African American man harbouring a 'TP63 gene copy number variant' (not specified) with a mosaic distribution (ratio not given). Putative diagnosis: ectodermal dysplasia (ED). Phenotype: patterned skin hypopigmentation (including linear hypopigmented patches following Blaschkoid lines), alopecia, and dental anomaly (one hypoplastic, conical tooth). Variant identified through an ED-associated gene panel.

PMID: 28977327 Rosa et al., 2017
3 siblings with Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, parents unaffected. Germline mosaicism hypothesised, but no DNA sequencing described.

PMID: 27351625 Enriquez et al., 2016
Report of two sibling fetuses with urogenital abnormalities, split hand and foot malformation, and bilateral cleft lip and palate. Both het for c.1051G > A; p.D351N in TP63. Both parents were unaffected. 'Parental lymphocyte DNA showed no evidence of the TP63 mutation but germline mosaicism in a parent is assumed' - only TP63 sequenced, parents are WT. Mosaicism presumed due to recurrence in the two siblings. The same missense mutation was reported de novo in other families (PMID: 21434540 Ergin et al., 2010 and PMID: 16691622 Rinne et al., 2006).

PMID: 22740388 Barbaro et al., 2012
Two sisters with Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Both sisters were heterozygous for TP63 c.1568T>C p.L523P (NM_003722.5: c.1574T>C, p.Leu525Pro) - not in gnomAD v4.1.0. Parental DNA analysis (blood, father's seminal fluid and mother's buccal, vaginal, and cervical cells) did not reveal the mutation. Authors pose that the apparently de novo variant was actually inherited through very low grade somatic mosaicism or maternal gonadal mosaicism.

PMID: 18792980 Kosaki et al., 2008
Newborn with split hand/foot malformation with whorl-like pigmentary pattern following Blaschko lines, heterozygous for c.727C>T, p.R204W (NM_003722.5: c.727C>T, p.Arg243Trp) - germline, variant not present in gnomAD v4.1.0. Mosaicism confirmed in the father (sequencing of peripheral blood and hair). Father presented with ectrodactyly of the hands a whorl-like pigmentary pattern following Blaschko lines.

TP63 is associated with several AD conditions in OMIM, including Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM:604292 (accessed 3rd Dec 2025).
Mosaic skin disorders - deep sequencing v3.9 TP63 Ida Ertmanska edited their review of gene: TP63: Changed rating: GREEN; Changed publications to: 18792980, 22740388, 27351625, 28977327, 34703865; Changed phenotypes to: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.9 TP63 Ida Ertmanska reviewed gene: TP63: Rating: ; Mode of pathogenicity: None; Publications: 18792980, 22740388, 27351625, 34703865; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska Tag Q4_25_NHS_review tag was added to gene: PMVK.
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska changed review comment from: PMID: 38360177 Polubothu et al., 2024
Patient with Inflammatory linear verrucous epidermal nevus (ILVEN) reported to carry a de novo PMVK variant c.126delG, p.R42fs (NM_006556.4: c.124del, p.Arg42Glyfs*16) - not in gnomAD v4.1.0; method: 250x WES; mosaic in blood and skin, no second variant detected in the same gene in skin.

PMID: 30942823 Atzmony et al., 2019 / PMID: 35853659 Atzmony et al., 2022
Report of 2 patients with Linear Porokeratosis. Inheritance pattern unknown.
Patient 1: 20 yo man with a germline-heterozygous PMVK c.329G>A, p.R110Q mutation in blood & affected skin. Skin showed a higher mutant allele fraction (Ref:Non-Ref read ratio was 21:15 in blood and 16:61 in tissue). Suggested somatic loss-of-heterozygosity.
Patient 2: 5 yo girl with a germline mutation PMVK c.79G>T, p.Glu27* & a somatic mutation PMVK c.379C>T, p.Gln127* (Ref:Non-Ref = 113:0 in blood, and 119:34 in tissue). Variant p.Glu27* has MAF = 0.0005930 in gnomAD v4.1.0 (Admixed American pop), no homozygotes.

This gene is NOT predicted to be LoF intolerant (pLI = 0.02, LOEUF = 0.87). PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025).; to: PMID: 38360177 Polubothu et al., 2024
Patient with Inflammatory linear verrucous epidermal nevus (ILVEN) reported to carry a de novo PMVK variant c.126delG, p.R42fs (NM_006556.4: c.124del, p.Arg42Glyfs*16) - not in gnomAD v4.1.0; method: 250x WES; mosaic in blood and skin, no second variant detected in the same gene in skin.

PMID: 30942823 Atzmony et al., 2019 / PMID: 35853659 Atzmony et al., 2022
Report of 2 patients with Linear Porokeratosis - plaques distributed along the lines of Blaschko, suggesting cutaneous mosaicism. Inheritance pattern unknown.
Patient 1: 20 yo man with a germline-heterozygous PMVK c.329G>A, p.R110Q mutation in blood & affected skin. Skin showed a higher mutant allele fraction (Ref:Non-Ref read ratio was 21:15 in blood and 16:61 in tissue). Suggested somatic loss-of-heterozygosity.
Patient 2: 5 yo girl with a germline mutation PMVK c.79G>T, p.Glu27* & a somatic mutation PMVK c.379C>T, p.Gln127* (Ref:Non-Ref = 113:0 in blood, and 119:34 in tissue). Variant p.Glu27* has MAF = 0.0005930 in gnomAD v4.1.0 (Admixed American pop), no homozygotes.

This gene is NOT predicted to be LoF intolerant (pLI = 0.02, LOEUF = 0.87). PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025).
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska commented on gene: PMVK: Comment on list classification: There are 3 unrelated individuals diagnosed with linear porokeratosis / ILVEN with mosaic PMVK variants. 1 individual harboured a mosaic PMVK variant only (vPMID: 38360177), while two patients carried a germline PMVK mutation together with either a somatic PMVK variant, or evidence of loss of heterozygosity (PMID: 30942823). Based on the available evidence, this gene should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: PMVK.
Mosaic skin disorders - deep sequencing v3.9 PMVK Ida Ertmanska Phenotypes for gene: PMVK were changed from Linear porokeratosis to inflammatory linear verrucous epidermal nevus, MONDO:0019318; Porokeratosis 1, multiple types OMIM:175800
Mosaic skin disorders - deep sequencing v3.8 PMVK Ida Ertmanska Publications for gene: PMVK were set to 30942823
Mosaic skin disorders - deep sequencing v3.7 PMVK Ida Ertmanska reviewed gene: PMVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30942823, 35853659, 38360177; Phenotypes: inflammatory linear verrucous epidermal nevus, MONDO:0019318, Porokeratosis 1, multiple types OMIM:175800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.7 GJA1 Ida Ertmanska changed review comment from: PMID: 27890787 Umegaki-Arao et al., 2017
14-year-old girl with inflammatory linear verrucous epidermal nevus (ILVEN); onset at 1yo, worsening over time. At age 14, she developed widespread erythematous plaques and verrucous plaques along Blaschko’s lines on the extremities and buttocks, as well as palmoplantar hyperkeratosis. Hair, teeth, and nails were not affected.
8 candidate variants detected; GJA1 c.131C>T (p.A44V) was the only candidate mutation detected in affected epidermis but not in white blood cells; detected in 22 of 72 reads (30.5%).
The same variant but germline was reported as causative in erythrokeratodermia variabilis et progressiva (EKVP) in PMID: 25398053 Boyden et al., 2015).; to: PMID: 27890787 Umegaki-Arao et al., 2017
14-year-old girl with inflammatory linear verrucous epidermal nevus (ILVEN); onset at 1yo, worsening over time. At age 14, she developed widespread erythematous plaques and verrucous plaques along Blaschko’s lines on the extremities and buttocks, as well as palmoplantar hyperkeratosis. Hair, teeth, and nails were not affected.
8 candidate variants detected; GJA1 c.131C>T (p.A44V) was the only candidate mutation detected in affected epidermis but not in white blood cells; detected in 22 of 72 reads (30%).
The same variant but germline was reported as causative in erythrokeratodermia variabilis et progressiva (EKVP) in PMID: 25398053 Boyden et al., 2015).
Mosaic skin disorders - deep sequencing v3.7 GJA1 Ida Ertmanska Phenotypes for gene: GJA1 were changed from Inflammatory Linear Verrucous Epidermal Naevi (ILVEN) to inflammatory linear verrucous epidermal nevus, MONDO:0019318
Mosaic skin disorders - deep sequencing v3.6 GJA1 Ida Ertmanska Publications for gene: GJA1 were set to PMID: 27890787
Mosaic skin disorders - deep sequencing v3.5 GJA1 Ida Ertmanska Classified gene: GJA1 as Red List (low evidence)
Mosaic skin disorders - deep sequencing v3.5 GJA1 Ida Ertmanska Added comment: Comment on list classification: As there is only one individual reported in literature with a skin disorder and a mosaic GJA1 variant, this gene should remain Red for Mosaic skin disorders - deep sequencing, until more evidence emerges.
Mosaic skin disorders - deep sequencing v3.5 GJA1 Ida Ertmanska Gene: gja1 has been classified as Red List (Low Evidence).
Mosaic skin disorders - deep sequencing v3.4 GJA1 Ida Ertmanska changed review comment from: PMID: 27890787 Umegaki-Arao et al., 2017
14-year-old girl with inflammatory linear verrucous epidermal nevus (ILVEN); onset at 1yo, worsening over time. At age 14, she developed widespread erythematous plaques and verrucous plaques along Blaschko’s lines on the extremities and buttocks, as well as palmoplantar hyperkeratosis. Hair, teeth, and nails were not affected.
8 candidate variants detected; GJA1 c.131C>T (p.A44V) was the only candidate mutation detected in affected epidermis but not in white blood cells; detected in 22 of 72 reads (30.5%).; to: PMID: 27890787 Umegaki-Arao et al., 2017
14-year-old girl with inflammatory linear verrucous epidermal nevus (ILVEN); onset at 1yo, worsening over time. At age 14, she developed widespread erythematous plaques and verrucous plaques along Blaschko’s lines on the extremities and buttocks, as well as palmoplantar hyperkeratosis. Hair, teeth, and nails were not affected.
8 candidate variants detected; GJA1 c.131C>T (p.A44V) was the only candidate mutation detected in affected epidermis but not in white blood cells; detected in 22 of 72 reads (30.5%).
The same variant but germline was reported as causative in erythrokeratodermia variabilis et progressiva (EKVP) in PMID: 25398053 Boyden et al., 2015).
Mosaic skin disorders - deep sequencing v3.4 GJA1 Ida Ertmanska edited their review of gene: GJA1: Changed rating: RED
Mosaic skin disorders - deep sequencing v3.4 GJA1 Ida Ertmanska reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27890787; Phenotypes: inflammatory linear verrucous epidermal nevus, MONDO:0019318; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v3.4 CARD14 Arina Puzriakova Publications for gene: CARD14 were set to
Mosaic skin disorders - deep sequencing v3.3 CARD14 Ida Ertmanska Phenotypes for gene: CARD14 were changed from ILVEN (submitted 2 cases) to inflammatory linear verrucous epidermal nevus, MONDO:0019318
Mosaic skin disorders - deep sequencing v3.2 CARD14 Ida Ertmanska Classified gene: CARD14 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v3.2 CARD14 Ida Ertmanska Gene: card14 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: CARD14.
Tag Q4_25_NHS_review tag was added to gene: CARD14.
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska changed review comment from: Comment on list classification: There are 2 unrelated individuals reported with inflammatory linear verrucous epidermal nevus and mosaic variants in CARD14. 2 more cases have been reported without clinical or variant details.; to: Comment on list classification: There are 2 unrelated individuals reported with inflammatory linear verrucous epidermal nevus and mosaic variants in CARD14. 2 more mosaic cases have been reported without clinical or variant details. There is some functional evidence in cell cultures supporting the role of CARD14 in keratinocyte proliferation. Based on available evidence, this gene should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska changed review comment from: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
Functional evidence - patient 2 keratinocyte culture: WST-1 proliferation assay showed a significant a proliferation rate increase; ELISA showed a significant increase in NF-κB p65 subunit activity.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).; to: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
Functional evidence: WST-1 proliferation assay showed a significant a proliferation rate increase in SVK14 cells transfected with the mutant CARD14 construct; ELISA showed a significant increase in NF-κB p65 subunit activity in patient 2 keratinocyte culture.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska changed review comment from: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).; to: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
Functional evidence - patient 2 keratinocyte culture: WST-1 proliferation assay showed a significant a proliferation rate increase; ELISA showed a significant increase in NF-κB p65 subunit activity.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska edited their review of gene: CARD14: Added comment: Comment on list classification: There are 2 unrelated individuals reported with inflammatory linear verrucous epidermal nevus and mosaic variants in CARD14. 2 more cases have been reported without clinical or variant details.; Changed rating: GREEN; Changed publications to: 34116062, 35853659, 38360177
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska changed review comment from: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.
This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?; to: PMID: 34116062 Riachi et al., 2021
2 probands with heterozygous mosaic CARD14 variants, diagnosed with Inflammatory linear verrucous epidermal naevus (ILVEN).
Patient 1: c.356T > A, p.Met119Lys present in 20% of DNA. Variant not present in gnomAD v4. Same variant in a non-mosaic state caused pityriasis rubra pilaris (PMID: 28301045 Lwin et al., 2018).
Patient 2: c.277A>G, p.Lys93Glu present in 1% of DNA extracted from affected skin. Variant not in gnomAD v4.

PMID: 38360177 Polubothu et al., 2024
2 patients with ILVEN with mosaic variants in CARD14 picked up on 250x WES - patient / variant details not specified.

PMID: 35853659 Atzmony et al., 2023
Patient 2 - female patient diagnosed with ILVEN, developed psoriasis vulgaris at 13 months; het for germline variant CARD14 c. 2044C>T, p.R682W; she also carried a post-zygotic variant in KRT10: c.467G>A, p.R156H. The CARD14 variant is very common (MAF = 0.01604 in gnomAD v4 - European population, total of 30 homozygotes reported). Mosaic KRT10 more likely to be causal?

This gene is associated with AD Pityriasis rubra pilaris MIM:173200 and AD Psoriasis 2 MIM:602723 in OMIM (accessed 28th Nov 2025).
Mosaic skin disorders - deep sequencing v3.1 CARD14 Ida Ertmanska reviewed gene: CARD14: Rating: AMBER; Mode of pathogenicity: None; Publications: 34116062, 35853659; Phenotypes: inflammatory linear verrucous epidermal nevus, MONDO:0019318; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v3.1 GJA1 Veronica Kinsler gene: GJA1 was added
gene: GJA1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: GJA1 was set to Other
Publications for gene: GJA1 were set to PMID: 27890787
Phenotypes for gene: GJA1 were set to Inflammatory Linear Verrucous Epidermal Naevi (ILVEN)
Review for gene: GJA1 was set to GREEN
Added comment: Mosaic, potential for germline transmission
Sources: Expert Review
Mosaic skin disorders - deep sequencing v3.1 TSC1 Veronica Kinsler edited their review of gene: TSC1: Changed rating: GREEN
Mosaic skin disorders - deep sequencing v3.1 TSC2 Veronica Kinsler edited their review of gene: TSC2: Changed phenotypes to: Cutaneous pigmentary abnormalities, and/or other aspects of germline TSC disease
Mosaic skin disorders - deep sequencing v3.1 TSC2 Veronica Kinsler gene: TSC2 was added
gene: TSC2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: TSC2 was set to Other
Publications for gene: TSC2 were set to PMID: 37356622
Review for gene: TSC2 was set to GREEN
Added comment: Mosaic, potential for transmission to offspring in germline
Sources: Expert Review
Mosaic skin disorders - deep sequencing v3.1 TSC1 Veronica Kinsler gene: TSC1 was added
gene: TSC1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: TSC1 was set to Other
Publications for gene: TSC1 were set to PMID: 37356622
Phenotypes for gene: TSC1 were set to Cutaneous pigmentary abnormalities, and/or other aspects of germline TSC disease
Added comment: Mosaic, potential for germline transmission to offspring
Sources: Expert Review
Mosaic skin disorders - deep sequencing v3.1 CARD14 Veronica Kinsler reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34116062, PMID: 38360177, PMID: 35853659; Phenotypes: Inflammatory Linear Verrucous Epidermal Naevi (ILVEN); Mode of inheritance: Other
Mosaic skin disorders - deep sequencing v3.1 TP63 Veronica Kinsler reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34703865, PMID: 27351625, PMID: 22740388; Phenotypes: Blaschkolinear hypopigmentation, with or without features of germline TP63 diseases; Mode of inheritance: None
Mosaic skin disorders - deep sequencing v3.1 PMVK Veronica Kinsler reviewed gene: PMVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38360177, PMID: 35853659; Phenotypes: Inflammatory Linear Verrucous Epidermal Naevi (ILVEN); Mode of inheritance: Other
Mosaic skin disorders - deep sequencing v3.1 KITLG Veronica Kinsler reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28257793; Phenotypes: Blaschkolinear hyperpigmentation; Mode of inheritance: Other
Mosaic skin disorders - deep sequencing v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2025-04-30
Mosaic skin disorders - deep sequencing v3.0 Eleanor Williams promoted panel to version 3.0
Mosaic skin disorders - deep sequencing v2.49 GJA4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GJA4.
Mosaic skin disorders - deep sequencing v2.49 ARAF Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ARAF.
Mosaic skin disorders - deep sequencing v2.49 MAP3K3 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: MAP3K3.
Mosaic skin disorders - deep sequencing v2.49 TEK Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TEK.
Tag Q3_23_NHS_review was removed from gene: TEK.
Mosaic skin disorders - deep sequencing v2.49 PTCH1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PTCH1.
Tag Q3_23_NHS_review was removed from gene: PTCH1.
Mosaic skin disorders - deep sequencing v2.49 PIK3R1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PIK3R1.
Tag Q3_23_NHS_review was removed from gene: PIK3R1.
Mosaic skin disorders - deep sequencing v2.49 NEK9 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: NEK9.
Tag Q3_23_NHS_review was removed from gene: NEK9.
Mosaic skin disorders - deep sequencing v2.49 MVD Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MVD.
Mosaic skin disorders - deep sequencing v2.49 IKBKG Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: IKBKG.
Mosaic skin disorders - deep sequencing v2.49 GJA4 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: GJA4.
Tag Q3_23_NHS_review was removed from gene: GJA4.
Mosaic skin disorders - deep sequencing v2.49 FGFR2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: FGFR2.
Tag Q3_23_NHS_review was removed from gene: FGFR2.
Mosaic skin disorders - deep sequencing v2.49 ATP2A2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ATP2A2.
Tag Q3_23_NHS_review was removed from gene: ATP2A2.
Mosaic skin disorders - deep sequencing v2.49 AKT3 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AKT3.
Tag Q3_23_NHS_review was removed from gene: AKT3.
Mosaic skin disorders - deep sequencing v2.49 TEK Achchuthan Shanmugasundram reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v2.49 PTCH1 Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.49 PIK3R1 Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.49 NEK9 Achchuthan Shanmugasundram reviewed gene: NEK9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.49 MVD Achchuthan Shanmugasundram reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.49 IKBKG Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - deep sequencing v2.49 GJA4 Achchuthan Shanmugasundram reviewed gene: GJA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.49 FGFR2 Achchuthan Shanmugasundram reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.49 ATP2A2 Achchuthan Shanmugasundram reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v2.49 AKT3 Achchuthan Shanmugasundram reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.48 TEK Achchuthan Shanmugasundram Source Expert Review Green was added to TEK.
Source NHS GMS was added to TEK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 PTCH1 Achchuthan Shanmugasundram Source Expert Review Green was added to PTCH1.
Source NHS GMS was added to PTCH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 PIK3R1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIK3R1.
Source NHS GMS was added to PIK3R1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 NEK9 Achchuthan Shanmugasundram Source Expert Review Green was added to NEK9.
Source NHS GMS was added to NEK9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 MVD Achchuthan Shanmugasundram Source Expert Review Green was added to MVD.
Source NHS GMS was added to MVD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 IKBKG Achchuthan Shanmugasundram Source Expert Review Green was added to IKBKG.
Source NHS GMS was added to IKBKG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 GJA4 Achchuthan Shanmugasundram Source Expert Review Green was added to GJA4.
Source NHS GMS was added to GJA4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 FGFR2 Achchuthan Shanmugasundram Source Expert Review Green was added to FGFR2.
Source NHS GMS was added to FGFR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 ATP2A2 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP2A2.
Source NHS GMS was added to ATP2A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.48 AKT3 Achchuthan Shanmugasundram Source Expert Review Green was added to AKT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v2.47 MVD Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: MVD.
Mosaic skin disorders - deep sequencing v2.47 MVD Arina Puzriakova Classified gene: MVD as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.47 MVD Arina Puzriakova Added comment: Comment on list classification: At least 5 individuals reported (PMID: 30942823; 33491095) which meets the criteria for classifying this gene-disease association as Green at the next GMS panel update.
Mosaic skin disorders - deep sequencing v2.47 MVD Arina Puzriakova Gene: mvd has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.46 MVD Arina Puzriakova commented on gene: MVD
Mosaic skin disorders - deep sequencing v2.46 MVD Arina Puzriakova Publications for gene: MVD were set to 30942823
Mosaic skin disorders - deep sequencing v2.45 MVD Arina Puzriakova Phenotypes for gene: MVD were changed from Linear porokeratosis to Porokeratosis 7, multiple types, OMIM:614714
Mosaic skin disorders - deep sequencing v2.44 IKBKG Arina Puzriakova changed review comment from: Comment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution.

Overall 'R327 Mosaic skin disorders - deep sequencing' represents the most likely diagnostic route for these cases and therefore a Green rating on this panel would be appropriate.; to: Comment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution.

Overall 'R327 Mosaic skin disorders - deep sequencing' represents a plausible route for referral and diagnosis for these cases and therefore a Green rating on this panel would be appropriate.
Mosaic skin disorders - deep sequencing v2.44 IKBKG Arina Puzriakova Classified gene: IKBKG as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.44 IKBKG Arina Puzriakova Added comment: Comment on list classification: Incontinentia pigmenti (IP) is a X-linked dominant disorder associated with variants in the IKBKG gene. IP is mostly lethal in males in utero, and only very rare surviving male cases have somatic mosaicism. Phenotypically, cutaneous lesions manifest in Blaschkoid distribution.

Overall 'R327 Mosaic skin disorders - deep sequencing' represents the most likely diagnostic route for these cases and therefore a Green rating on this panel would be appropriate.
Mosaic skin disorders - deep sequencing v2.44 IKBKG Arina Puzriakova Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.43 IKBKG Arina Puzriakova Tag somatic tag was added to gene: IKBKG.
Tag Q2_24_promote_green tag was added to gene: IKBKG.
Mosaic skin disorders - deep sequencing v2.43 IKBKG Arina Puzriakova Publications for gene: IKBKG were set to
Mosaic skin disorders - deep sequencing v2.42 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300 to Incontinentia pigmenti, OMIM:308300
Mosaic skin disorders - deep sequencing v2.41 GNB2 Arina Puzriakova Classified gene: GNB2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.41 GNB2 Arina Puzriakova Added comment: Comment on list classification: Upgraded rating from Red to Amber in line with review by Tom Cullup (GOSH) to facilitate further gathering of data where appropriate which could potentially support future promotion to Green.
Mosaic skin disorders - deep sequencing v2.41 GNB2 Arina Puzriakova Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.40 EGFR Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). Rating Amber inline with his review. Single individual (PMID: 31745974) with nonepidermolytic keratinocytic epidermal naevi and a postzygotic variant in EGFR.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). Rating Amber inline with this review to facilitate further gathering of data where appropriate which could potentially support future promotion to Green. Single individual (PMID: 31745974) with nonepidermolytic keratinocytic epidermal naevi and a postzygotic variant in EGFR.
Mosaic skin disorders - deep sequencing v2.40 EGFR Arina Puzriakova Classified gene: EGFR as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.40 EGFR Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Rating Amber inline with his review. Single individual (PMID: 31745974) with nonepidermolytic keratinocytic epidermal naevi and a postzygotic variant in EGFR.
Mosaic skin disorders - deep sequencing v2.40 EGFR Arina Puzriakova Gene: egfr has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.37 AKT2 Arina Puzriakova commented on gene: AKT2
Mosaic skin disorders - deep sequencing v2.37 AKT2 Arina Puzriakova Publications for gene: AKT2 were set to
Mosaic skin disorders - deep sequencing v2.36 AKT2 Arina Puzriakova Mode of pathogenicity for gene: AKT2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - deep sequencing v2.35 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from Overgrowth syndrome (not always mosaic in this case) to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
Mosaic skin disorders - deep sequencing v2.34 KITLG Arina Puzriakova Phenotypes for gene: KITLG were changed from Progressive hyper- and hypopigmentation; Blaschko-linear hypopigmentation to Linear and whorled nevoid hypermelanosis (LWNH); Hyperpigmentation with or without hypopigmentation, OMIM:145250
Mosaic skin disorders - deep sequencing v2.33 KITLG Arina Puzriakova Publications for gene: KITLG were set to
Mosaic skin disorders - deep sequencing v2.32 KITLG Arina Puzriakova Classified gene: KITLG as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.32 KITLG Arina Puzriakova Added comment: Comment on list classification: Upgrading rating from Grey (removed) to Amber. One patient has been reported with congenital linear and mottled hyperpigmentation on trunk and limbs due to a de novo postzygotic KITLG variant (p.Asp110Gly). Immunohistochemistry suggested that this variant results in increased epidermal expression of KITLG and an increased number of epidermal melanocytes (PMID: 28257793).

The germline phenotype (OMIM:145250) is more likely to be tested under R236 and as there is only one somatic case with a mosaic presentation, suggesting an Amber rating while awaiting further evidence (added 'watchlist' tag).
Mosaic skin disorders - deep sequencing v2.32 KITLG Arina Puzriakova Gene: kitlg has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.31 KITLG Arina Puzriakova Tag curated_removed was removed from gene: KITLG.
Tag watchlist tag was added to gene: KITLG.
Mosaic skin disorders - deep sequencing v2.31 TP63 Arina Puzriakova Tag watchlist tag was added to gene: TP63.
Tag somatic tag was added to gene: TP63.
Mosaic skin disorders - deep sequencing v2.31 TP63 Arina Puzriakova Classified gene: TP63 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.31 TP63 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). This gene is associated with a number of phenotypes, some of which lead to dermatologic abnormalities. Mosaicism is not common - there is only one paper confirming somatic mosaicism in one individual (PMID: 18792980), plus another case mentioned by Tom Cullup from Kinsler lab. There is also a report of suspected mosaicism (but not confirmed) in a patient due to the Blaschko distributions of hypopigmented patches on their skin and hair loss (PMID: 34703865).

The phenotype fits the scope and this is likely the only panel to pick up somatic cases. However, the evidence supporting somatic mosaicism is borderline. Only one case has been published since 2008, and at least one additional confirmed case is needed to corroborate the association. Leaving rating as Amber with watchlist tag to monitor for additional evidence.
Mosaic skin disorders - deep sequencing v2.31 TP63 Arina Puzriakova Gene: tp63 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.30 TEK Arina Puzriakova Phenotypes for gene: TEK were changed from Venous malformations, multiple cutaneous and mucosal, 600195 to Venous malformations, multiple cutaneous and mucosal, OMIM:600195; Unifocal and multifocal sporadic venous malformations; Blue rubber bleb naevus
Mosaic skin disorders - deep sequencing v2.29 TEK Arina Puzriakova Publications for gene: TEK were set to 27519652
Mosaic skin disorders - deep sequencing v2.28 TEK Arina Puzriakova Mode of pathogenicity for gene: TEK was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - deep sequencing v2.27 TEK Arina Puzriakova Tag somatic tag was added to gene: TEK.
Tag Q3_23_promote_green tag was added to gene: TEK.
Tag Q3_23_NHS_review tag was added to gene: TEK.
Mosaic skin disorders - deep sequencing v2.27 TEK Arina Puzriakova Classified gene: TEK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.27 TEK Arina Puzriakova Added comment: Comment on list classification: Multiple cases of sporadic vascular malformations due to cutaneous mosaicism of a TEK variant (PMID: 19079259; 30677207; 34850385; 35460567; 35740480; 36924216). Different variants reported but the L914F substitution is most common and as are double variants found in cis. Somatic variants may not be picked up via other panels for the phenotype (R326) and therefore this gene should be promoted to Green at then next GMS panel update.
Mosaic skin disorders - deep sequencing v2.27 TEK Arina Puzriakova Gene: tek has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.26 PTCH1 Arina Puzriakova Publications for gene: PTCH1 were set to
Mosaic skin disorders - deep sequencing v2.25 PTCH1 Arina Puzriakova Classified gene: PTCH1 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.25 PTCH1 Arina Puzriakova Added comment: Comment on list classification: New gene on this panel added by Tom Cullup (GOSH). Multiple cases have been reported where linear and segmental basal cell carcinomas developed due to cutaneous mosaicism of a heterozygous variant in the PTCH1 gene (PMID: 23746055; 27658957; 30520020; 32298489; 35235545; 36002246). These variants may not be picked up via other panels for the phenotype and therefore this gene should be promoted to Green at then next GMS panel update.
Mosaic skin disorders - deep sequencing v2.25 PTCH1 Arina Puzriakova Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.24 PTCH1 Arina Puzriakova Tag mosaicism tag was added to gene: PTCH1.
Tag somatic tag was added to gene: PTCH1.
Mosaic skin disorders - deep sequencing v2.24 PTCH1 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PTCH1.
Tag Q3_23_NHS_review tag was added to gene: PTCH1.
Mosaic skin disorders - deep sequencing v2.24 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Gorlin syndrome / basal cell naevus syndrome to Basal cell nevus syndrome 1, OMIM:109400; Basal cell carcinoma, somatic, OMIM:605462; Gorlin syndrome
Mosaic skin disorders - deep sequencing v2.23 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from Overgrowth syndrome (not always mosaic in this case) to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Mosaic skin disorders - deep sequencing v2.22 AKT3 Arina Puzriakova Publications for gene: AKT3 were set to
Mosaic skin disorders - deep sequencing v2.21 AKT3 Arina Puzriakova Mode of pathogenicity for gene: AKT3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - deep sequencing v2.20 AKT3 Arina Puzriakova Classified gene: AKT3 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.20 AKT3 Arina Puzriakova Added comment: Comment on list classification: Variants in this gene cause a spectrum of megalencephaly-related disorders, which in some cases can present as megalencephaly-capillary malformation syndrome (MCAP). Both somatic and germline variants have been reported. Vascular skin anomalies have been identified in at least 2 individuals with germline variants (PMIDs: 22729224; 23745724) and 5 individuals with somatic variants (PMIDs: 25722288; 28969385; 34237354; 36695285; 37395289) meaning that AKT3 can be promoted to green at the next GMS panel update.
Mosaic skin disorders - deep sequencing v2.20 AKT3 Arina Puzriakova Gene: akt3 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.19 AKT3 Arina Puzriakova Tag curated_removed was removed from gene: AKT3.
Tag Q3_23_promote_green tag was added to gene: AKT3.
Tag Q3_23_NHS_review tag was added to gene: AKT3.
Mosaic skin disorders - deep sequencing v2.19 PIK3R1 Arina Puzriakova Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931
Mosaic skin disorders - deep sequencing v2.18 PIK3R1 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: PIK3R1.
Tag Q3_23_NHS_review tag was added to gene: PIK3R1.
Mosaic skin disorders - deep sequencing v2.18 PIK3R1 Arina Puzriakova Classified gene: PIK3R1 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.18 PIK3R1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least 17 cases have been identified with somatic mosaic variants in PIK3R1 (PMIDs: 34040190; 35964931). Affected individuals exhibit various vascular lesions and overgrowth which were comparable to features of the PIK3CA-related overgrowth spectrum.
Mosaic skin disorders - deep sequencing v2.18 PIK3R1 Arina Puzriakova Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.17 NEK9 Arina Puzriakova Tag somatic tag was added to gene: NEK9.
Mosaic skin disorders - deep sequencing v2.17 NEK9 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases (PMIDs: 27153399; 34184242; 31961058)
Mosaic skin disorders - deep sequencing v2.17 NEK9 Arina Puzriakova Publications for gene: NEK9 were set to PMID: 27153399; 34184242; 33481271
Mosaic skin disorders - deep sequencing v2.16 NEK9 Arina Puzriakova Classified gene: NEK9 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.16 NEK9 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases.
Mosaic skin disorders - deep sequencing v2.16 NEK9 Arina Puzriakova Gene: nek9 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.15 NEK9 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: NEK9.
Tag Q3_23_NHS_review tag was added to gene: NEK9.
Mosaic skin disorders - deep sequencing v2.15 NEK9 Arina Puzriakova Phenotypes for gene: NEK9 were changed from nevus comedonicus (NC) (MIM: 617025) to Nevus comedonicus, somatic, OMIM:617025
Mosaic skin disorders - deep sequencing v2.14 GJA4 Arina Puzriakova Publications for gene: GJA4 were set to 33912852
Mosaic skin disorders - deep sequencing v2.13 GJA4 Arina Puzriakova Classified gene: GJA4 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.13 GJA4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update.

A recurrent GJA4 c.121G>T (p.Gly41Cys) somatic variant has been found in >50 individuals with cavernous venous malformation. The same somatic variant has been found in at least three unrelated cases with cutaneous lesions which plausibly could be referred via this panel. Functional studies have shown this is a GoF variant that leads to formation of a hyperactive hemichannel.
Mosaic skin disorders - deep sequencing v2.13 GJA4 Arina Puzriakova Gene: gja4 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.12 GJA4 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: GJA4.
Tag Q3_23_NHS_review tag was added to gene: GJA4.
Tag recurrent-variant tag was added to gene: GJA4.
Mosaic skin disorders - deep sequencing v2.12 FGFR2 Arina Puzriakova Tag somatic tag was added to gene: FGFR2.
Mosaic skin disorders - deep sequencing v2.12 FGFR2 Arina Puzriakova Publications for gene: FGFR2 were set to 9728990
Mosaic skin disorders - deep sequencing v2.11 FGFR2 Arina Puzriakova Mode of pathogenicity for gene: FGFR2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - deep sequencing v2.10 FGFR2 Arina Puzriakova Classified gene: FGFR2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.10 FGFR2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to green at the next GMS panel update. FGFR2 is associated with multiple phenotypes but mosaic somatic variants have been found in more than 10 unrelated individuals in literature with nevoid skin disorders.
Mosaic skin disorders - deep sequencing v2.10 FGFR2 Arina Puzriakova Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.9 FGFR2 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: FGFR2.
Tag Q3_23_NHS_review tag was added to gene: FGFR2.
Mosaic skin disorders - deep sequencing v2.9 FGFR2 Arina Puzriakova Phenotypes for gene: FGFR2 were changed from Epdermal naevi to Keratinocytic epidermal naevi (KENs); Naevoid acanthosis nigricans; RAVEN (round and velvety epidermal naevus)
Mosaic skin disorders - deep sequencing v2.8 EPHB4 Arina Puzriakova Tag watchlist tag was added to gene: EPHB4.
Mosaic skin disorders - deep sequencing v2.8 EPHB4 Arina Puzriakova Classified gene: EPHB4 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.8 EPHB4 Arina Puzriakova Added comment: Comment on list classification: Rating Amber for now as only a single case with mosaicism has been reported to date. The patients phenotype was comparable to germline cases but another independent report or functional studies of the variant would help corroborate this association before classifying as diagnostic-grade.
Mosaic skin disorders - deep sequencing v2.8 EPHB4 Arina Puzriakova Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.7 EPHB4 Arina Puzriakova Publications for gene: EPHB4 were set to PMID: 30760892
Mosaic skin disorders - deep sequencing v2.6 EPHB4 Arina Puzriakova Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2 (MIM 618196); Lymphatic malformation 7 (MIM 617300) to Capillary malformation-arteriovenous malformation 2, OMIM:618196
Mosaic skin disorders - deep sequencing v2.5 EPHB4 Arina Puzriakova commented on gene: EPHB4
Mosaic skin disorders - deep sequencing v2.5 ATP2A2 Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: ATP2A2.
Tag Q3_23_NHS_review tag was added to gene: ATP2A2.
Mosaic skin disorders - deep sequencing v2.5 ATP2A2 Arina Puzriakova Classified gene: ATP2A2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.5 ATP2A2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 6 unrelated cases of mosaic Darier disease reported in literature. ATP2A2 is associated with a relevant phenotype in OMIM that also mentions somatic mosaic disease.
Mosaic skin disorders - deep sequencing v2.5 ATP2A2 Arina Puzriakova Gene: atp2a2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.4 ATP2A2 Arina Puzriakova Phenotypes for gene: ATP2A2 were changed from to Segmental Darier disease OMIM:124200; Darier-White disease OMIM:124200; Acrokeratosis verruciformis, OMIM:101900
Mosaic skin disorders - deep sequencing v2.3 ATP2A2 Arina Puzriakova Publications for gene: ATP2A2 were set to
Mosaic skin disorders - deep sequencing v2.2 ARAF Arina Puzriakova Tag treatable tag was added to gene: ARAF.
Mosaic skin disorders - deep sequencing v2.2 ARAF Arina Puzriakova Classified gene: ARAF as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v2.2 ARAF Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). ARAF is not currently associated with any phenotype in OMIM or G2P. Although only two patients have been reported with the same missense variant, functional studies including an animal model provide strong support of pathogenicity (outlined below). Evidence of this variant specific gene-disease relationship is sufficiently compelling but the phenotype is more within scope of the R110 Segmental overgrowth disorders – Deep sequencing panel. Therefore rating as amber on this panel and green on R110.

- PMID: 31263281 (2019):
To date, only two unrelated patients have been reported with the same missense GoF variant in ARAF (c.640T>C:p.S214P) who both had a complex lymphatic anomaly (no haplotype analysis was done). Cells transduced with ARAF-S214P showed elevated ERK1/2 activity, enhanced lymphangiogenic capacity, and disassembly of actin skeleton and VE-cadherin junctions. A zebrafish model recapitulated the lymphatic phenotype. The cellular, zebrafish and patient clinical phenotypes were all rescued with with a MEK inhibitor.
Mosaic skin disorders - deep sequencing v2.2 ARAF Arina Puzriakova Gene: araf has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v2.1 PTCH1 Tom Cullup gene: PTCH1 was added
gene: PTCH1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Gorlin syndrome / basal cell naevus syndrome
Penetrance for gene: PTCH1 were set to unknown
Review for gene: PTCH1 was set to GREEN
Added comment: Well established cause of Gorlin / BCN syndrome. Need to add to mosaic panel in order that mosaic patients / presentations can be accurately diagnosed - current existing indication (R214) does not include low-level variant analysis.
Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 ARAF Tom Cullup gene: ARAF was added
gene: ARAF was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: ARAF 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: ARAF were set to 31263281
Phenotypes for gene: ARAF were set to central conducting lymphatic anomaly
Penetrance for gene: ARAF were set to unknown
Mode of pathogenicity for gene: ARAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ARAF was set to GREEN
Added comment: Two patients described in Li et al with lymphatic anomaly, with same activating missense; functional studies support activating effect including zebrafish model.
Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 EGFR Tom Cullup gene: EGFR was added
gene: EGFR was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EGFR were set to 31745974
Phenotypes for gene: EGFR were set to nonepidermolytic keratinocytic epidermal naevus
Penetrance for gene: EGFR were set to unknown
Mode of pathogenicity for gene: EGFR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: EGFR was set to AMBER
Added comment: Insufficient evidence for green rating, but compelling evidence from publication of single case, and important to be able to analyse in phenotypically appropriate cases as an amber gene.
Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 GNB2 Tom Cullup reviewed gene: GNB2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34124757; Phenotypes: Sturge-Weber syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.1 EPHB4 Tom Cullup gene: EPHB4 was added
gene: EPHB4 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHB4 were set to PMID: 30760892
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2 (MIM 618196); Lymphatic malformation 7 (MIM 617300)
Penetrance for gene: EPHB4 were set to unknown
Review for gene: EPHB4 was set to GREEN
Added comment: EPHB4 well documented as disease-associated gene; only a single mosaic case so far reported in the literature (PMID: 30760892), but considered likely to be underestimate by Prof Kinsler's team. Important differential for RASA1-like presentation (CM-AVM).
Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 NEK9 Tom Cullup gene: NEK9 was added
gene: NEK9 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: NEK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEK9 were set to PMID: 27153399; 34184242; 33481271
Phenotypes for gene: NEK9 were set to nevus comedonicus (NC) (MIM: 617025)
Penetrance for gene: NEK9 were set to unknown
Mode of pathogenicity for gene: NEK9 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: NEK9 was set to GREEN
Added comment: Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 TEK Tom Cullup reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 27519652; Phenotypes: Blue rubber bleb naevus, multiple cutaneous and mucosal venous malformations (VMCM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.1 PIK3R1 Tom Cullup gene: PIK3R1 was added
gene: PIK3R1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931
Phenotypes for gene: PIK3R1 were set to Vascular malformation and overgrowth
Penetrance for gene: PIK3R1 were set to unknown
Mode of pathogenicity for gene: PIK3R1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PIK3R1 was set to GREEN
Added comment: Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 AKT2 Tom Cullup edited their review of gene: AKT2: Added comment: Hot-spot variant Glu17Lys reported multiple times de novo, at least twice mosaic (21979934; 24285683); Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications to: 21979934, 24285683; Changed phenotypes to: hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MIM 240900)
Mosaic skin disorders - deep sequencing v2.1 GJA4 Tom Cullup gene: GJA4 was added
gene: GJA4 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: GJA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA4 were set to 33912852
Phenotypes for gene: GJA4 were set to Cutaneous and hepatic vascular lesions (no OMIM phenotype)
Penetrance for gene: GJA4 were set to unknown
Mode of pathogenicity for gene: GJA4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GJA4 was set to GREEN
Added comment: Multiple patients with shared phenotype and hot-spot Gly41Cys somatic gain of function mutation in 33912852.
Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 KITLG Tom Cullup edited their review of gene: KITLG: Added comment: Good evidence to support causation in familial progressive hyper- and hypopigmentation (FPHH) - green on pigmentary disorders panel. Less evidence to support linear and whorled nevoid hypermelanosis (LWNH) - single case in PMID 28257793, but important as differential for mosaic pigmentary disorders as no brain involvement unlike other similarly presenting disorders (therefore no brain scanning mandated following KITLG diagnosis).; Changed rating: GREEN; Changed publications to: 28257793; Changed phenotypes to: Linear and whorled nevoid hypermelanosis (LWNH), familial progressive hyperpigmentation with or without hypopigmentation (FPHH)(MIM 145250)
Mosaic skin disorders - deep sequencing v2.1 TP63 Tom Cullup gene: TP63 was added
gene: TP63 was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP63 were set to 18792980
Phenotypes for gene: TP63 were set to Split hand foot malformation with whorl-like pigmentary pattern
Penetrance for gene: TP63 were set to unknown
Review for gene: TP63 was set to GREEN
Added comment: Lots of evidence to support germline variation causing disease - 2x cases now identified as somatic mosaic with pigmentary anomalies (1x in literature, 1 x Kinsler lab). Gene can be rated green based on germline occurrences, and important to be able to detect somatic mosaics as a differential in cases of Blaschkolinear pigmentary anomalies.
Sources: Expert list
Mosaic skin disorders - deep sequencing v2.1 FGFR2 Tom Cullup edited their review of gene: FGFR2: Added comment: Sufficient evidence now to promote to green; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications to: 31937562, 30580445, 30117157; Changed phenotypes to: Keratinocytic epidermal naevi (KENs), naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)
Mosaic skin disorders - deep sequencing v2.1 AKT3 Tom Cullup edited their review of gene: AKT3: Added comment: Previously not included in R327 (R110 only), but is a differential in patients referred for R327 only.; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications to: 22500628, 22729224; Changed phenotypes to: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-2 (MPPH2) (615937)
Mosaic skin disorders - deep sequencing v2.1 ATP2A2 Tom Cullup reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11121153; Phenotypes: Segmental Darier disease (MIM 124200), Darier-White disease (MIM 124200), Acrokeratosis verruciformis (MIM 101900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Mosaic skin disorders - deep sequencing v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Mosaic skin disorders - deep sequencing v1.24 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from McCune-Albright syndrome to McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168
Mosaic skin disorders - deep sequencing v1.23 NDUFB11 Arina Puzriakova Mode of inheritance for gene: NDUFB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - deep sequencing v1.22 MAP3K3 Arina Puzriakova Tag gene-checked tag was added to gene: MAP3K3.
Mosaic skin disorders - deep sequencing v1.22 GNA14 Arina Puzriakova Tag gene-checked tag was added to gene: GNA14.
Mosaic skin disorders - deep sequencing v1.22 PTPN11 Arina Puzriakova Tag Q4_21_rating was removed from gene: PTPN11.
Tag Q4_21_NHS_review was removed from gene: PTPN11.
Mosaic skin disorders - deep sequencing v1.22 PORCN Arina Puzriakova Tag Q4_21_rating was removed from gene: PORCN.
Tag Q4_21_NHS_review was removed from gene: PORCN.
Mosaic skin disorders - deep sequencing v1.22 BRAF Arina Puzriakova Tag Q4_21_rating was removed from gene: BRAF.
Tag Q4_21_NHS_review was removed from gene: BRAF.
Mosaic skin disorders - deep sequencing v1.22 PTPN11 Arina Puzriakova commented on gene: PTPN11
Mosaic skin disorders - deep sequencing v1.22 PORCN Arina Puzriakova commented on gene: PORCN
Mosaic skin disorders - deep sequencing v1.22 BRAF Arina Puzriakova commented on gene: BRAF
Mosaic skin disorders - deep sequencing v1.21 PTPN11 Arina Puzriakova Source Expert Review Green was added to PTPN11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v1.21 PORCN Arina Puzriakova Source Expert Review Green was added to PORCN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v1.21 BRAF Arina Puzriakova Source Expert Review Green was added to BRAF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mosaic skin disorders - deep sequencing v1.20 NOD2 Arina Puzriakova Phenotypes for gene: NOD2 were changed from Blau syndrome to Blau syndrome, OMIM:186580
Mosaic skin disorders - deep sequencing v1.19 MVK Arina Puzriakova Phenotypes for gene: MVK were changed from Actinic porokeratosis; porokeratosis of Mibelli to Porokeratosis 3, multiple types, OMIM:175900
Mosaic skin disorders - deep sequencing v1.18 PORCN Eleanor Williams Tag Q4_21_NHS_review tag was added to gene: PORCN.
Mosaic skin disorders - deep sequencing v1.18 PTPN11 Eleanor Williams Tag Q4_21_NHS_review tag was added to gene: PTPN11.
Mosaic skin disorders - deep sequencing v1.18 BRAF Eleanor Williams Tag Q4_21_NHS_review tag was added to gene: BRAF.
Mosaic skin disorders - deep sequencing v1.18 PTPN11 Eleanor Williams Classified gene: PTPN11 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v1.18 PTPN11 Eleanor Williams Added comment: Comment on list classification: Leaving rating as amber, but with recommendation for green rating after GMS confirmation given the green review from NHS reviewer.
Mosaic skin disorders - deep sequencing v1.18 PTPN11 Eleanor Williams Gene: ptpn11 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v1.17 PTPN11 Eleanor Williams Phenotypes for gene: PTPN11 were changed from Noonan syndrome; Noonan syndrome with lentigines (LEOPARD); Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion) to Phakomatosis pigmentovascularis (PPV), MONDO:0017318; LEOPARD syndrome 1, OMIM:151100; Speckled lentiginous naevus syndrome (deletion)
Mosaic skin disorders - deep sequencing v1.16 PTPN11 Eleanor Williams Tag Q4_21_rating tag was added to gene: PTPN11.
Mosaic skin disorders - deep sequencing v1.16 PTPN11 Eleanor Williams Phenotypes for gene: PTPN11 were changed from Noonan syndrome; Noonan syndrome with lentigines (LEOPARD) to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD); Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion)
Mosaic skin disorders - deep sequencing v1.15 PORCN Eleanor Williams Tag mosaicism tag was added to gene: PORCN.
Mosaic skin disorders - deep sequencing v1.15 PORCN Eleanor Williams Classified gene: PORCN as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v1.15 PORCN Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for a GREEN rating following GMS review.
Mosaic skin disorders - deep sequencing v1.15 PORCN Eleanor Williams Gene: porcn has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v1.14 PORCN Eleanor Williams Tag Q4_21_rating tag was added to gene: PORCN.
Mosaic skin disorders - deep sequencing v1.14 PORCN Eleanor Williams Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia (https://omim.org/entry/305600) to Focal dermal hypoplasia, OMIM:305600; focal dermal hypoplasia, MONDO:0010592
Mosaic skin disorders - deep sequencing v1.13 PORCN Eleanor Williams Publications for gene: PORCN were set to 17546030
Mosaic skin disorders - deep sequencing v1.12 PORCN Eleanor Williams edited their review of gene: PORCN: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - deep sequencing v1.12 PORCN Eleanor Williams reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17546030, 19309688; Phenotypes: Focal dermal hypoplasia, OMIM:305600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v1.12 BRAF Eleanor Williams Classified gene: BRAF as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v1.12 BRAF Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber but with a recommendation for GREEN rating following GMS review. More than 3 cases with tissue specific mosaic missense variants reported and a relevant skin phenotype.
Mosaic skin disorders - deep sequencing v1.12 BRAF Eleanor Williams Gene: braf has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v1.11 BRAF Eleanor Williams Phenotypes for gene: BRAF were changed from Melanocytic naevus syndrome (MIM 137550); Vascular malformations; Noonan syndrome 7 (MIM 613706); LEOPARD syndrome 3 (MIM 613707); Cardio-facio-cutaneous syndrome 1 (MIM 115150) to Melanocytic naevus syndrome, OMIM:137550; Vascular malformations; Noonan syndrome 7 (MIM 613706); LEOPARD syndrome 3 , OMIM:613707; Cardio-facio-cutaneous syndrome 1, OMIM:115150
Mosaic skin disorders - deep sequencing v1.10 BRAF Eleanor Williams Publications for gene: BRAF were set to PMID: 31111470; 31891627; 29461977
Mosaic skin disorders - deep sequencing v1.9 BRAF Eleanor Williams Tag Q4_21_rating tag was added to gene: BRAF.
Mosaic skin disorders - deep sequencing v1.9 BRAF Eleanor Williams commented on gene: BRAF
Mosaic skin disorders - deep sequencing v1.9 PORCN Tom Cullup gene: PORCN was added
gene: PORCN was added to Mosaic skin disorders - deep sequencing. Sources: Other
Mode of inheritance for gene: PORCN 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: PORCN were set to 17546030
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia (https://omim.org/entry/305600)
Penetrance for gene: PORCN were set to unknown
Review for gene: PORCN was set to GREEN
Added comment: Sources: Other
Mosaic skin disorders - deep sequencing v1.9 GNB2 Eleanor Williams gene: GNB2 was added
gene: GNB2 was added to Mosaic skin disorders - deep sequencing. Sources: Literature
somatic tags were added to gene: GNB2.
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB2 were set to 34124757
Phenotypes for gene: GNB2 were set to Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Review for gene: GNB2 was set to RED
Added comment: PMID: 34124757 Fjaer et al 2021 report 1 case of a patient with phenotypic features of Sturge–Weber syndrome (skin legion on left eyelid, nose and brow, mild intellectual disability, refractory eplipsy, left-sided leptomeningeal vascular malformation and atrophy, no eye abnormality) and a variant in GNB2 (NM_005273.3):c.232A>G:p.Lys78Glu, which was present in 6% of the reads from the lesional dermis and 21% of the reads in an endothelial culture from the biopsy, but only present at 0.15% of the reads in non-lesional dermis. The patient was negative for the GNAQ R183Q variant more frequently associated with Sturge–Weber syndrome.
Sources: Literature
Mosaic skin disorders - deep sequencing v1.8 GNAQ Eleanor Williams Phenotypes for gene: GNAQ were changed from Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Mosaic skin disorders - deep sequencing v1.7 GNAQ Eleanor Williams Publications for gene: GNAQ were set to 26778290
Mosaic skin disorders - deep sequencing v1.6 GNAQ Eleanor Williams Mode of pathogenicity for gene: GNAQ was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mosaic skin disorders - deep sequencing v1.5 GNAQ Eleanor Williams reviewed gene: GNAQ: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: None
Mosaic skin disorders - deep sequencing v1.5 PTPN11 Tom Cullup edited their review of gene: PTPN11: Added comment: Request upgrade to green in order that panel updates can be made in preparation for publication of case series, without delay waiting for next PanelApp update cycle.; Changed rating: GREEN; Changed publications to: Mosaic case series currently under publication review - expected to be published by end of 2021; Changed phenotypes to: Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100), Speckled lentiginous naevus syndrome (deletion)
Mosaic skin disorders - deep sequencing v1.5 BRAF Tom Cullup changed review comment from: Note that the primary mosaic phenotypes are melanocytic naevus syndrome (MIM number currently not linked to BRAF) and vascular malformations (no appropriate MIM number currently) - see publications list.
Sources: Expert list; to: Note that the primary mosaic phenotypes are melanocytic naevus syndrome (MIM number currently not linked to BRAF) and vascular malformations (no appropriate MIM number currently) - see publications list.
Sources: Expert list
Fast track form submitted. Note from Prof Kinsler:
We have noticed that BRAF is not included on this panel. As a key player in mosaic diseases of various types this was an error somehow in the preparation of the original list. Without it's inclusion on the panel various conditions cannot be properly tested for. For example 7% of Congenital Melanocytic Naevus syndrome are caused by BRAF mosaicism and approximately 5% of Arteriovenous Malformations.
Mosaic skin disorders - deep sequencing v1.5 BRAF Tom Cullup gene: BRAF was added
gene: BRAF was added to Mosaic skin disorders - deep sequencing. Sources: Expert list
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to PMID: 31111470; 31891627; 29461977
Phenotypes for gene: BRAF were set to Melanocytic naevus syndrome (MIM 137550); Vascular malformations; Noonan syndrome 7 (MIM 613706); LEOPARD syndrome 3 (MIM 613707); Cardio-facio-cutaneous syndrome 1 (MIM 115150)
Penetrance for gene: BRAF were set to Complete
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: BRAF was set to GREEN
Added comment: Note that the primary mosaic phenotypes are melanocytic naevus syndrome (MIM number currently not linked to BRAF) and vascular malformations (no appropriate MIM number currently) - see publications list.
Sources: Expert list
Mosaic skin disorders - deep sequencing v1.5 JAK2 Arina Puzriakova Tag removed was removed from gene: JAK2.
Tag curated_removed tag was added to gene: JAK2.
Mosaic skin disorders - deep sequencing v1.5 TYRP1 Arina Puzriakova Tag curated_removed tag was added to gene: TYRP1.
Mosaic skin disorders - deep sequencing v1.5 TYR Arina Puzriakova Tag curated_removed tag was added to gene: TYR.
Mosaic skin disorders - deep sequencing v1.5 TERT Arina Puzriakova Tag curated_removed tag was added to gene: TERT.
Mosaic skin disorders - deep sequencing v1.5 NOD2 Arina Puzriakova Tag curated_removed tag was added to gene: NOD2.
Mosaic skin disorders - deep sequencing v1.5 NDUFB11 Arina Puzriakova Tag curated_removed tag was added to gene: NDUFB11.
Mosaic skin disorders - deep sequencing v1.5 MVK Arina Puzriakova Tag curated_removed tag was added to gene: MVK.
Mosaic skin disorders - deep sequencing v1.5 KITLG Arina Puzriakova Tag curated_removed tag was added to gene: KITLG.
Mosaic skin disorders - deep sequencing v1.5 JAK2 Arina Puzriakova Tag removed tag was added to gene: JAK2.
Mosaic skin disorders - deep sequencing v1.5 HCCS Arina Puzriakova Tag curated_removed tag was added to gene: HCCS.
Mosaic skin disorders - deep sequencing v1.5 COX7B Arina Puzriakova Tag curated_removed tag was added to gene: COX7B.
Mosaic skin disorders - deep sequencing v1.5 AKT3 Arina Puzriakova Tag curated_removed tag was added to gene: AKT3.
Mosaic skin disorders - deep sequencing v1.5 AKT2 Arina Puzriakova Tag curated_removed tag was added to gene: AKT2.
Mosaic skin disorders - deep sequencing v1.5 MVD Zornitza Stark reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33491095; Phenotypes: Porokeratosis 7, multiple types, MIM# 614714; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v1.5 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 32908217, 29077987; Phenotypes: Incontinentia pigmenti, 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mosaic skin disorders - deep sequencing v1.5 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937562, 30580445; Phenotypes: Keratinocytic epidermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v1.5 ATP2A2 Zornitza Stark reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30085326, 26154588, 21720150, 12890216; Phenotypes: Darier disease, MIM# 124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v1.5 AKT1 Eleanor Williams Publications for gene: AKT1 were set to 21793738
Mosaic skin disorders - deep sequencing v1.4 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: ; Mode of pathogenicity: None; Publications: 33030203; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders - deep sequencing v1.4 Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off
Panel version has been signed off
Mosaic skin disorders - deep sequencing v1.3 Sarah Leigh Panel version has been signed off
Mosaic skin disorders - deep sequencing v1.0 Catherine Snow promoted panel to version 1.0
Mosaic skin disorders - deep sequencing v0.24 Catherine Snow List of related panels changed from to R327
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Mosaic skin disorders - deep sequencing v0.23 TEK Catherine Snow Classified gene: TEK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.23 TEK Catherine Snow Gene: tek has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.22 TEK Catherine Snow gene: TEK was added
gene: TEK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TEK were set to 27519652
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195
Review for gene: TEK was set to AMBER
Added comment: As advised by Genomics England clinician - "TEK is currently green on vascular and DDG2P panels, activating germline mutations cause cutaneous mucosal venous malformations, somatic mutations cause blue rubber bleb naevus syndrome. I don’t know how much evidence there is for blood mosaicism detection (versus tissue testing). Soblet et al, 2017, (PMID 27519652), didn’t find the pathogenic variants (identified through tissue testing) with targeted deep sequencing in blue rubber bleb naevus syndrome, but did find one at the 1-5% level in sporadic multifocal vascular malformation (probably all related conditions??). As not much targeted deep sequencing has been done it’s possible this would be a good future one.
Sources: Expert Review
Mosaic skin disorders - deep sequencing v0.21 NF2 Catherine Snow Classified gene: NF2 as Green List (high evidence)
Mosaic skin disorders - deep sequencing v0.21 NF2 Catherine Snow Gene: nf2 has been classified as Green List (High Evidence).
Mosaic skin disorders - deep sequencing v0.20 NF2 Catherine Snow gene: NF2 was added
gene: NF2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF2 were set to 29409008
Phenotypes for gene: NF2 were set to NEUROFIBROMATOSIS, TYPE II; NF2
Added comment: Added to panel as advised by Genomics England Clinical Team as NF2 is tested on mosaic panel at GOSH and "targeted NGS can detect low level mosaicism in blood (often tumour tissue is tested if available but some may be detectable with deep sequencing of blood)".
Sources: Expert Review
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Classified gene: PMVK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.19 PMVK Catherine Snow Gene: pmvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.18 MVD Catherine Snow Classified gene: MVD as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.18 MVD Catherine Snow Gene: mvd has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.17 FGFR2 Catherine Snow Classified gene: FGFR2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.17 FGFR2 Catherine Snow Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.16 RHOA Tom Cullup reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 31570889; Phenotypes: Blaschko-linear hypopigmentation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MVD Tom Cullup reviewed gene: MVD: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PMVK Tom Cullup reviewed gene: PMVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR2 Tom Cullup reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 9728990; Phenotypes: Epdermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 CARD14 Tom Cullup reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ILVEN (submitted 2 cases); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TYRP1 Tom Cullup reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TYR Tom Cullup reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 TERT Tom Cullup reviewed gene: TERT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 SPRED1 Tom Cullup reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27423141; Phenotypes: Legius syndrome (611431); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 SMO Tom Cullup reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome (601707); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 RASA1 Tom Cullup reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24038909, 30635911; Phenotypes: Capillary malformation-arteriovenous malformation syndrome (608354); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PTPN11 Tom Cullup reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: Mosaic case series shortly to be published by Kinsler group; Phenotypes: Noonan syndrome with lentigines (LEOPARD)(151100), Speckled lentiginous naevus syndrome (deletion) and PPV spilorosea (missense activating like Leopard); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PTEN Tom Cullup reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749983, 12471211; Phenotypes: Cowden syndrome (158350), Epidermal naevi, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 PIK3CA Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499344, 22729224, 29446767, 23100325; Phenotypes: PIK3CA-related overgrowth syndromes (613089, 612918, 615108, 155500), Vascular malformations, Epidermal naevus (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NRAS Tom Cullup reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 24006476, 10878667; Phenotypes: Melanocytic naevi (162900), Congenital melanocytic naevus syndrome, Noonan syndrome (613224); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NOD2 Tom Cullup reviewed gene: NOD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blau syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NF1 Tom Cullup reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668375, 14605872; Phenotypes: Neurofibromatosis type I (162200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 NDUFB11 Tom Cullup reviewed gene: NDUFB11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MVK Tom Cullup reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: 24781643; Phenotypes: Actinic porokeratosis, porokeratosis of Mibelli (175900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MTOR Tom Cullup reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27159400; Phenotypes: Hypomelanosis of Ito/Blaschko-linear hypopigmentation (Focal cortical dysplasia type II, 607341); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MAP3K3 Tom Cullup reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 25728774; Phenotypes: Verrucous haemangiomas; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 MAP2K1 Tom Cullup reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461977; Phenotypes: Arteriovenous malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRT10 Tom Cullup reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: 29135017, 25495838; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Pachyonychia congenita, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRT1 Tom Cullup reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28532675, 17255957; Phenotypes: Epidermolytic hyperkeratosis, Ichthyosis histrix, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KRAS Tom Cullup reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 22683711; Phenotypes: Epidermal naevi, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 KITLG Tom Cullup reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive hyper- and hypopigmentation, Blaschko-linear hypopigmentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 JAK2 Tom Cullup reviewed gene: JAK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelofibrosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 IDH2 Tom Cullup reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 IDH1 Tom Cullup reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 HRAS Tom Cullup reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22499344, 22683711, 24006476; Phenotypes: Epidermal naevi, Schimmelpenning syndrome, Phakomatosis pigmentokeratotica, Woolly hair, Costello syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 HCCS Tom Cullup reviewed gene: HCCS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNAS Tom Cullup reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v0.16 GNAQ Tom Cullup reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNA14 Tom Cullup reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27476652; Phenotypes: Kaposiform endothelioma, Tufted angioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 GNA11 Tom Cullup reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26778290; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR3 Tom Cullup reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 16841094 , 22499344; Phenotypes: Epidermal naevi (162900), Syringocystadenoma papilliferum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 FGFR1 Tom Cullup reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 26942290; Phenotypes: Encephalocraniocutaneous Lipomatosis (613001); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 COX7B Tom Cullup reviewed gene: COX7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - deep sequencing v0.16 AKT3 Tom Cullup reviewed gene: AKT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 AKT2 Tom Cullup reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 AKT1 Tom Cullup reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.16 ACTB Tom Cullup reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28347698; Phenotypes: Becker naevus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.15 TYRP1 Catherine Snow Source Expert Review Removed was added to TYRP1.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 TYR Catherine Snow Source Expert Review Removed was added to TYR.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 TERT Catherine Snow Source Expert Review Removed was added to TERT.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 SPRED1 Catherine Snow Publications for gene SPRED1 were changed from to 27423141
Mosaic skin disorders - deep sequencing v0.15 SMO Catherine Snow Publications for gene SMO were changed from to 27236920
Mosaic skin disorders - deep sequencing v0.15 RASA1 Catherine Snow Publications for gene RASA1 were changed from to 24038909; 30635911
Mosaic skin disorders - deep sequencing v0.15 PTPN11 Catherine Snow Source Expert Review Amber was added to PTPN11.
Publications for gene PTPN11 were changed from to Mosaic case series shortly to be published by Kinsler group
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.15 PTEN Catherine Snow Publications for gene PTEN were changed from to 10749983; 12471211
Mosaic skin disorders - deep sequencing v0.15 PIK3CA Catherine Snow Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325
Mosaic skin disorders - deep sequencing v0.15 NRAS Catherine Snow Publications for gene NRAS were changed from to 22499344; 10878667; 24006476
Mosaic skin disorders - deep sequencing v0.15 NOD2 Catherine Snow Source Expert Review Removed was added to NOD2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 NF1 Catherine Snow Publications for gene NF1 were changed from to 14605872; 17668375
Mosaic skin disorders - deep sequencing v0.15 NDUFB11 Catherine Snow Source Expert Review Removed was added to NDUFB11.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 MVK Catherine Snow Source Expert Review Removed was added to MVK.
Publications for gene MVK were changed from to 24781643
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 MTOR Catherine Snow Publications for gene MTOR were changed from to 27159400
Mosaic skin disorders - deep sequencing v0.15 MAP3K3 Catherine Snow Publications for gene MAP3K3 were changed from to 25728774
Mosaic skin disorders - deep sequencing v0.15 MAP2K1 Catherine Snow Publications for gene MAP2K1 were changed from to 29461977
Mosaic skin disorders - deep sequencing v0.15 KRT10 Catherine Snow Publications for gene KRT10 were changed from to 29135017; 25495838
Mosaic skin disorders - deep sequencing v0.15 KRT1 Catherine Snow Publications for gene KRT1 were changed from to 28532675; 17255957
Mosaic skin disorders - deep sequencing v0.15 KRAS Catherine Snow Publications for gene KRAS were changed from to 22499344; 22683711
Mosaic skin disorders - deep sequencing v0.15 KITLG Catherine Snow Source Expert Review Removed was added to KITLG.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 JAK2 Catherine Snow Source Expert Review Removed was added to JAK2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 IDH2 Catherine Snow Publications for gene IDH2 were changed from to 22057234
Mosaic skin disorders - deep sequencing v0.15 IDH1 Catherine Snow Publications for gene IDH1 were changed from to 22057234
Mosaic skin disorders - deep sequencing v0.15 HRAS Catherine Snow Publications for gene HRAS were changed from to 22499344; 22683711; 24006476
Mosaic skin disorders - deep sequencing v0.15 HCCS Catherine Snow Source Expert Review Removed was added to HCCS.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 GNAS Catherine Snow Publications for gene GNAS were changed from to 12970318
Mosaic skin disorders - deep sequencing v0.15 GNAQ Catherine Snow Publications for gene GNAQ were changed from to 26778290
Mosaic skin disorders - deep sequencing v0.15 GNA14 Catherine Snow Publications for gene GNA14 were changed from to 27476652
Mosaic skin disorders - deep sequencing v0.15 GNA11 Catherine Snow Publications for gene GNA11 were changed from to 26778290
Mosaic skin disorders - deep sequencing v0.15 FGFR3 Catherine Snow Publications for gene FGFR3 were changed from to 22499344; 16841094
Mosaic skin disorders - deep sequencing v0.15 FGFR1 Catherine Snow Publications for gene FGFR1 were changed from to 26942290
Mosaic skin disorders - deep sequencing v0.15 COX7B Catherine Snow Source Expert Review Removed was added to COX7B.
Mode of inheritance for gene COX7B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT3 Catherine Snow Source Expert Review Removed was added to AKT3.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT2 Catherine Snow Source Expert Review Removed was added to AKT2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - deep sequencing v0.15 AKT1 Catherine Snow Publications for gene AKT1 were changed from to 21793738
Mosaic skin disorders - deep sequencing v0.15 ACTB Catherine Snow Publications for gene ACTB were changed from to 28347698
Mosaic skin disorders - deep sequencing v0.14 RHOA Catherine Snow gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome
Mosaic skin disorders - deep sequencing v0.14 MVD Catherine Snow gene: MVD was added
gene: MVD was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823
Phenotypes for gene: MVD were set to Linear porokeratosis
Mosaic skin disorders - deep sequencing v0.14 PMVK Catherine Snow gene: PMVK was added
gene: PMVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 30942823
Phenotypes for gene: PMVK were set to Linear porokeratosis
Mosaic skin disorders - deep sequencing v0.14 FGFR2 Catherine Snow gene: FGFR2 was added
gene: FGFR2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR2 were set to 9728990
Phenotypes for gene: FGFR2 were set to Epdermal naevi
Mosaic skin disorders - deep sequencing v0.14 CARD14 Catherine Snow gene: CARD14 was added
gene: CARD14 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)
Mosaic skin disorders - deep sequencing v0.13 ATP2A2 Catherine Snow reviewed gene: ATP2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.12 ATP2A2 Catherine Snow gene: ATP2A2 was added
gene: ATP2A2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v0.9 IKBKG Rebecca Foulger Classified gene: IKBKG as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.9 IKBKG Rebecca Foulger Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.8 IKBKG Rebecca Foulger gene: IKBKG was added
gene: IKBKG was added to Mosaic skin disorders - deep sequencing. Sources: Other
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1, 300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; Incontinentia pigmenti, 308300
Added comment: Added IKBKG (NEMO) to the 'Mosaic skin disorders- deep sequencing' panel as suggested by Anna de Burca and Ellen Thomas, based on known mosaic skin phenotypes. Added IKBKG as an Amber gene awaiting clinical review at the first skin Webex call.
Sources: Other
Mosaic skin disorders - deep sequencing v0.7 TYRP1 Rebecca Foulger Source London North GLH was added to TYRP1.
Mosaic skin disorders - deep sequencing v0.7 TYR Rebecca Foulger Source London North GLH was added to TYR.
Mosaic skin disorders - deep sequencing v0.7 TERT Rebecca Foulger Source London North GLH was added to TERT.
Mosaic skin disorders - deep sequencing v0.7 SPRED1 Rebecca Foulger Source London North GLH was added to SPRED1.
Mosaic skin disorders - deep sequencing v0.7 SMO Rebecca Foulger Source London North GLH was added to SMO.
Mosaic skin disorders - deep sequencing v0.7 RASA1 Rebecca Foulger Source London North GLH was added to RASA1.
Mosaic skin disorders - deep sequencing v0.7 PTPN11 Rebecca Foulger Source London North GLH was added to PTPN11.
Mosaic skin disorders - deep sequencing v0.7 PTEN Rebecca Foulger Source London North GLH was added to PTEN.
Mosaic skin disorders - deep sequencing v0.7 PIK3CA Rebecca Foulger Source London North GLH was added to PIK3CA.
Mosaic skin disorders - deep sequencing v0.7 NRAS Rebecca Foulger Source London North GLH was added to NRAS.
Mosaic skin disorders - deep sequencing v0.7 NOD2 Rebecca Foulger Source London North GLH was added to NOD2.
Mosaic skin disorders - deep sequencing v0.7 NF1 Rebecca Foulger Source London North GLH was added to NF1.
Mosaic skin disorders - deep sequencing v0.7 NDUFB11 Rebecca Foulger Source London North GLH was added to NDUFB11.
Mosaic skin disorders - deep sequencing v0.7 MVK Rebecca Foulger Source London North GLH was added to MVK.
Mosaic skin disorders - deep sequencing v0.7 MTOR Rebecca Foulger Source London North GLH was added to MTOR.
Mosaic skin disorders - deep sequencing v0.7 MAP3K3 Rebecca Foulger Source London North GLH was added to MAP3K3.
Mosaic skin disorders - deep sequencing v0.7 MAP2K1 Rebecca Foulger Source London North GLH was added to MAP2K1.
Mosaic skin disorders - deep sequencing v0.7 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Mosaic skin disorders - deep sequencing v0.7 KRT1 Rebecca Foulger Source London North GLH was added to KRT1.
Mosaic skin disorders - deep sequencing v0.7 KRAS Rebecca Foulger Source London North GLH was added to KRAS.
Mosaic skin disorders - deep sequencing v0.7 KITLG Rebecca Foulger Source London North GLH was added to KITLG.
Mosaic skin disorders - deep sequencing v0.7 JAK2 Rebecca Foulger Source London North GLH was added to JAK2.
Mosaic skin disorders - deep sequencing v0.7 IDH2 Rebecca Foulger Source London North GLH was added to IDH2.
Mosaic skin disorders - deep sequencing v0.7 IDH1 Rebecca Foulger Source London North GLH was added to IDH1.
Mosaic skin disorders - deep sequencing v0.7 HRAS Rebecca Foulger Source London North GLH was added to HRAS.
Mosaic skin disorders - deep sequencing v0.7 HCCS Rebecca Foulger Source London North GLH was added to HCCS.
Mosaic skin disorders - deep sequencing v0.7 GNAS Rebecca Foulger Source London North GLH was added to GNAS.
Mosaic skin disorders - deep sequencing v0.7 GNAQ Rebecca Foulger Source London North GLH was added to GNAQ.
Mosaic skin disorders - deep sequencing v0.7 GNA14 Rebecca Foulger Source London North GLH was added to GNA14.
Mosaic skin disorders - deep sequencing v0.7 GNA11 Rebecca Foulger Source London North GLH was added to GNA11.
Mosaic skin disorders - deep sequencing v0.7 FGFR3 Rebecca Foulger Source London North GLH was added to FGFR3.
Mosaic skin disorders - deep sequencing v0.7 FGFR1 Rebecca Foulger Source London North GLH was added to FGFR1.
Mosaic skin disorders - deep sequencing v0.7 COX7B Rebecca Foulger Source London North GLH was added to COX7B.
Mosaic skin disorders - deep sequencing v0.7 AKT3 Rebecca Foulger Source London North GLH was added to AKT3.
Mosaic skin disorders - deep sequencing v0.7 AKT2 Rebecca Foulger Source London North GLH was added to AKT2.
Mosaic skin disorders - deep sequencing v0.7 AKT1 Rebecca Foulger Source London North GLH was added to AKT1.
Mosaic skin disorders - deep sequencing v0.7 ACTB Rebecca Foulger Source London North GLH was added to ACTB.
Mosaic skin disorders - deep sequencing v0.6 Rebecca Foulger removed gene:RHOA from the panel
Mosaic skin disorders - deep sequencing v0.5 RHOA Rebecca Foulger Classified gene: RHOA as No list
Mosaic skin disorders - deep sequencing v0.5 RHOA Rebecca Foulger Added comment: Comment on list classification: Removed from the panel as suggested by V. Kinsler (email discussion).
Mosaic skin disorders - deep sequencing v0.5 RHOA Rebecca Foulger Gene: rhoa has been removed from the panel.
Mosaic skin disorders - deep sequencing v0.4 TYRP1 Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 TYR Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 TERT Rebecca Foulger reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 SPRED1 Rebecca Foulger reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 SMO Rebecca Foulger reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 RHOA Rebecca Foulger reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 RASA1 Rebecca Foulger reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NOD2 Rebecca Foulger reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NF1 Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 NDUFB11 Rebecca Foulger reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MVK Rebecca Foulger reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MAP3K3 Rebecca Foulger reviewed gene: MAP3K3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KRT1 Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 KITLG Rebecca Foulger reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 JAK2 Rebecca Foulger reviewed gene: JAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 IDH2 Rebecca Foulger reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 IDH1 Rebecca Foulger reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 HCCS Rebecca Foulger reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNA14 Rebecca Foulger reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 FGFR3 Rebecca Foulger reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 FGFR1 Rebecca Foulger reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 COX7B Rebecca Foulger reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 AKT3 Rebecca Foulger reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 AKT2 Rebecca Foulger reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 AKT1 Rebecca Foulger reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.4 ACTB Rebecca Foulger reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.3 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism
Mosaic skin disorders - deep sequencing v0.3 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TYR were set to Oculocutaneous albinism
Mosaic skin disorders - deep sequencing v0.3 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita
Mosaic skin disorders - deep sequencing v0.3 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPRED1 were set to Legius syndrome
Mosaic skin disorders - deep sequencing v0.3 SMO Rebecca Foulger gene: SMO was added
gene: SMO was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMO were set to Curry-Jones syndrome
Mosaic skin disorders - deep sequencing v0.3 RHOA Rebecca Foulger gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.3 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation syndrome
Mosaic skin disorders - deep sequencing v0.3 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Mosaic skin disorders - deep sequencing v0.3 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; Epidermal naevi; Melanoma
Mosaic skin disorders - deep sequencing v0.3 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations
Mosaic skin disorders - deep sequencing v0.3 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRAS were set to Congenital melanocytic naevus syndrome; Melanocytic naevi; Noonan syndrome
Mosaic skin disorders - deep sequencing v0.3 NOD2 Rebecca Foulger gene: NOD2 was added
gene: NOD2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOD2 were set to Blau syndrome
Mosaic skin disorders - deep sequencing v0.3 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis type I
Mosaic skin disorders - deep sequencing v0.3 NDUFB11 Rebecca Foulger gene: NDUFB11 was added
gene: NDUFB11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NDUFB11 were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Mosaic skin disorders - deep sequencing v0.3 MVK Rebecca Foulger gene: MVK was added
gene: MVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MVK were set to Actinic porokeratosis; porokeratosis of Mibelli
Mosaic skin disorders - deep sequencing v0.3 MTOR Rebecca Foulger gene: MTOR was added
gene: MTOR was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Mosaic skin disorders - deep sequencing v0.3 MAP3K3 Rebecca Foulger gene: MAP3K3 was added
gene: MAP3K3 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP3K3 were set to Verrucous haemangiomas
Mosaic skin disorders - deep sequencing v0.3 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome
Mosaic skin disorders - deep sequencing v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita
Mosaic skin disorders - deep sequencing v0.3 KRT1 Rebecca Foulger gene: KRT1 was added
gene: KRT1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix
Mosaic skin disorders - deep sequencing v0.3 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRAS were set to Schimmelpenning syndrome; Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 KITLG Rebecca Foulger gene: KITLG was added
gene: KITLG was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KITLG were set to Progressive hyper- and hypopigmentation; Blaschko-linear hypopigmentation
Mosaic skin disorders - deep sequencing v0.3 JAK2 Rebecca Foulger gene: JAK2 was added
gene: JAK2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: JAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JAK2 were set to Myelofibrosis
Mosaic skin disorders - deep sequencing v0.3 IDH2 Rebecca Foulger gene: IDH2 was added
gene: IDH2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH2 were set to Ollier disease; Maffucci syndrome
Mosaic skin disorders - deep sequencing v0.3 IDH1 Rebecca Foulger gene: IDH1 was added
gene: IDH1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IDH1 were set to Ollier disease; Maffucci syndrome
Mosaic skin disorders - deep sequencing v0.3 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Woolly hair; Phakomatosis pigmentokeratotica; Costello syndrome; Schimmelpenning syndrome; Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 HCCS Rebecca Foulger gene: HCCS was added
gene: HCCS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HCCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HCCS were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Mosaic skin disorders - deep sequencing v0.3 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to McCune-Albright syndrome
Mosaic skin disorders - deep sequencing v0.3 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome
Mosaic skin disorders - deep sequencing v0.3 GNA14 Rebecca Foulger gene: GNA14 was added
gene: GNA14 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA14 were set to Tufted angioma; Kaposiform endothelioma
Mosaic skin disorders - deep sequencing v0.3 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis
Mosaic skin disorders - deep sequencing v0.3 FGFR3 Rebecca Foulger gene: FGFR3 was added
gene: FGFR3 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Syringocystadenoma papilliferum; Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 FGFR1 Rebecca Foulger gene: FGFR1 was added
gene: FGFR1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Epidermal naevi
Mosaic skin disorders - deep sequencing v0.3 COX7B Rebecca Foulger gene: COX7B was added
gene: COX7B was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COX7B were set to Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Mosaic skin disorders - deep sequencing v0.3 AKT3 Rebecca Foulger gene: AKT3 was added
gene: AKT3 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT3 were set to Overgrowth syndrome (not always mosaic in this case)
Mosaic skin disorders - deep sequencing v0.3 AKT2 Rebecca Foulger gene: AKT2 was added
gene: AKT2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT2 were set to Overgrowth syndrome (not always mosaic in this case)
Mosaic skin disorders - deep sequencing v0.3 AKT1 Rebecca Foulger gene: AKT1 was added
gene: AKT1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT1 were set to Proteus syndrome
Mosaic skin disorders - deep sequencing v0.3 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Mosaic skin disorders - deep sequencing v0.0 Ellen McDonagh Added Panel Mosaic skin disorders - deep sequencing
Set panel types to: GMS Rare Disease