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10 Apr 2024	Ichthyosis and erythrokeratoderma v3.28	DBR1	Achchuthan Shanmugasundram Classified gene: DBR1 as Amber List (moderate evidence)
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.28	DBR1	Achchuthan Shanmugasundram Gene: dbr1 has been classified as Amber List (Moderate Evidence).
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.27	DBR1	Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: DBR1.
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.27	DBR1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, the same variant was identified in four different families and haplotype analysis suggests this to be a founder variant.; to: Comment on list classification: As reviewed by Zornitza Stark, the same variant was identified in four different families and haplotype analysis suggests this to be a founder variant. There is functional data available. This gene can only be rated amber with the current evidence. The 'founder-effect' tag is added to this gene.
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.27	DBR1	Achchuthan Shanmugasundram Classified gene: DBR1 as No list
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.27	DBR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, the same variant was identified in four different families and haplotype analysis suggests this to be a founder variant.
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.27	DBR1	Achchuthan Shanmugasundram Gene: dbr1 has been removed from the panel.
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.26	DBR1	Achchuthan Shanmugasundram edited their review of gene: DBR1: Changed phenotypes to: ichthyosis, MONDO:0019269
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.26	DBR1	Achchuthan Shanmugasundram Phenotypes for gene: DBR1 were changed from Ichthyosis (MONDO#0019269), DBR1-related to ichthyosis, MONDO:0019269
10 Apr 2024	Ichthyosis and erythrokeratoderma v3.25	DBR1	Achchuthan Shanmugasundram reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: inherited ichthyosis, MONDO:0015947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Mar 2024	Ichthyosis and erythrokeratoderma v3.25	ABHD5	Arina Puzriakova changed review comment from: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, one of the most the most prominent of features is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.; to: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, the most prominent feature is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.
26 Mar 2024	Ichthyosis and erythrokeratoderma v3.25	ABHD5	Arina Puzriakova Classified gene: ABHD5 as Amber List (moderate evidence)
26 Mar 2024	Ichthyosis and erythrokeratoderma v3.25	ABHD5	Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, one of the most the most prominent of features is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.
26 Mar 2024	Ichthyosis and erythrokeratoderma v3.25	ABHD5	Arina Puzriakova Gene: abhd5 has been classified as Amber List (Moderate Evidence).
26 Mar 2024	Ichthyosis and erythrokeratoderma v3.24	ABHD5	Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: ABHD5. Tag Q1_24_NHS_review tag was added to gene: ABHD5.
26 Mar 2024	Ichthyosis and erythrokeratoderma v3.24	ABHD5	Arina Puzriakova Publications for gene: ABHD5 were set to PubMed: 11590543
26 Mar 2024	Ichthyosis and erythrokeratoderma v3.23	ABHD5	Arina Puzriakova Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome to Chanarin-Dorfman syndrome, OMIM:275630
24 Jan 2024	Ichthyosis and erythrokeratoderma v3.22	POMP	Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: POMP. Tag Q1_24_expert_review tag was added to gene: POMP.
24 Jan 2024	Ichthyosis and erythrokeratoderma v3.22	POMP	Arina Puzriakova Classified gene: POMP as Red List (low evidence)
24 Jan 2024	Ichthyosis and erythrokeratoderma v3.22	POMP	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the gene-disease association but based on previous reviews, POMP is currently classified as Red on this panel due the single 1bp deletion identified in all cases to date residing in the 5'UTR of the POMP gene. The gene rating is conflicting on the R166 Palmoplantar keratodermas, where POMP is rated Green for the same phenotype. This has been tagged for NHSE expert review, and therefore also tagging the association on this panel so that the two panels can be considered together and the overall classification be aligned.
24 Jan 2024	Ichthyosis and erythrokeratoderma v3.22	POMP	Arina Puzriakova Gene: pomp has been classified as Red List (Low Evidence).
24 Jan 2024	Ichthyosis and erythrokeratoderma v3.21	POMP	Arina Puzriakova Publications for gene: POMP were set to 27503413; 20226437
24 Jan 2024	Ichthyosis and erythrokeratoderma v3.20	POMP	Arina Puzriakova Phenotypes for gene: POMP were changed from Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
24 Jan 2024	Ichthyosis and erythrokeratoderma v3.19	POMP	Arina Puzriakova Tag non-coding-known-pathogenic tag was added to gene: POMP.
18 Dec 2023	Ichthyosis and erythrokeratoderma v3.19	ABHD5	Tom Cullup gene: ABHD5 was added gene: ABHD5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to PubMed: 11590543 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome Penetrance for gene: ABHD5 were set to Complete Review for gene: ABHD5 was set to GREEN Added comment: Green gene on multiple panels including PPK. Request from Dr G Petrof, GOSH, to add this gene to ichthyosis, as this is part of presenting phenotype in Chanarin-Dorfman syndrome. Sources: Expert list
07 Nov 2023	Ichthyosis and erythrokeratoderma v3.19	SASH1	Arina Puzriakova Phenotypes for gene: SASH1 were changed from Pigmentation defects, palmoplantar keratoderma and skin carcinoma to ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.18	FAM83G	Arina Puzriakova Publications for gene: FAM83G were set to
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.17	FAM83G	Arina Puzriakova Classified gene: FAM83G as Amber List (moderate evidence)
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.17	FAM83G	Arina Puzriakova Added comment: Comment on list classification: Upgraded rating from Red to Amber inline with expert review by Tom Cullup (GOSH) to facilitate further gathering of data where appropriate which could potentially support future promotion to Green.
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.17	FAM83G	Arina Puzriakova Gene: fam83g has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.16	TGM5	Arina Puzriakova Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.15	TGM5	Arina Puzriakova Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2 to Peeling skin syndrome 2, OMIM:609796
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.14	TGM5	Arina Puzriakova Classified gene: TGM5 as Amber List (moderate evidence)
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.14	TGM5	Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.14	TGM5	Arina Puzriakova Gene: tgm5 has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.13	TGM5	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: TGM5. Tag Q4_23_NHS_review tag was added to gene: TGM5.
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.13	SERPINB8	Arina Puzriakova Classified gene: SERPINB8 as Amber List (moderate evidence)
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.13	SERPINB8	Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.13	SERPINB8	Arina Puzriakova Gene: serpinb8 has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.12	SERPINB8	Arina Puzriakova Phenotypes for gene: SERPINB8 were changed from Peeling skin syndrome 5 to Peeling skin syndrome 5, OMIM:617115
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.11	SERPINB8	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: SERPINB8. Tag Q4_23_NHS_review tag was added to gene: SERPINB8.
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.11	CSTA	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: CSTA. Tag Q4_23_NHS_review tag was added to gene: CSTA.
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.11	CSTA	Arina Puzriakova Classified gene: CSTA as Amber List (moderate evidence)
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.11	CSTA	Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.11	CSTA	Arina Puzriakova Gene: csta has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.10	CSTA	Arina Puzriakova Phenotypes for gene: CSTA were changed from peeling skin syndrome-4 (PSS4) to Peeling skin syndrome 4, OMIM:607936
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.9	CDSN	Arina Puzriakova Phenotypes for gene: CDSN were changed from Hypotrichosis 2; Peeling skin syndrome 1 to Peeling skin syndrome 1, OMIM:270300
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.8	CDSN	Arina Puzriakova Mode of inheritance for gene: CDSN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.7	CDSN	Arina Puzriakova Classified gene: CDSN as Amber List (moderate evidence)
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.7	CDSN	Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review. Changing MOI from 'BOTH mono- and biallelic' to 'BIALLELIC' as monoallelic variants are associated with hypotrichosis simplex of the scalp without other abnormalities (MIM# 146520).
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.7	CDSN	Arina Puzriakova Gene: cdsn has been classified as Amber List (Moderate Evidence).
31 Oct 2023	Ichthyosis and erythrokeratoderma v3.6	CDSN	Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: CDSN. Tag Q4_23_NHS_review tag was added to gene: CDSN.
07 Sep 2023	Ichthyosis and erythrokeratoderma v3.3	DBR1	Zornitza Stark gene: DBR1 was added gene: DBR1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 37656279 Phenotypes for gene: DBR1 were set to Ichthyosis (MONDO#0019269), DBR1-related Review for gene: DBR1 was set to AMBER Added comment: PMID: 37656279: - A homozygous missense as a founder recessive DBR1 variant in four consanguineous families. - Total of 7 affected children. WES done for one proband from each family. - Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life. - RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample. - Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant. - Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency. Sources: Literature
05 May 2023	Ichthyosis and erythrokeratoderma v3.3	SERPINB8	Tom Cullup gene: SERPINB8 was added gene: SERPINB8 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB8 were set to PubMed: 27476651 Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 Penetrance for gene: SERPINB8 were set to unknown Review for gene: SERPINB8 was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list
05 May 2023	Ichthyosis and erythrokeratoderma v3.3	TGM5	Tom Cullup gene: TGM5 was added gene: TGM5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM5 were set to PubMed: 16380904; 19440220; 20164844; 22036214 Phenotypes for gene: TGM5 were set to Peeling skin syndrome 2 Penetrance for gene: TGM5 were set to unknown Review for gene: TGM5 was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list
05 May 2023	Ichthyosis and erythrokeratoderma v3.3	CDSN	Tom Cullup gene: CDSN was added gene: CDSN was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CDSN were set to PubMed: 21191406; 12754508; 23957618 Phenotypes for gene: CDSN were set to Hypotrichosis 2; Peeling skin syndrome 1 Penetrance for gene: CDSN were set to unknown Review for gene: CDSN was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list
05 May 2023	Ichthyosis and erythrokeratoderma v3.3	CSTA	Tom Cullup gene: CSTA was added gene: CSTA was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 21944047; 23534700 Phenotypes for gene: CSTA were set to peeling skin syndrome-4 (PSS4) Penetrance for gene: CSTA were set to unknown Review for gene: CSTA was set to GREEN Added comment: Recommend all peeling skin syndrome genes should be on R165 & R166 Sources: Expert list
05 May 2023	Ichthyosis and erythrokeratoderma v3.3	FAM83G	Tom Cullup reviewed gene: FAM83G: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29138053, 31656861, 29963719; Phenotypes: palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
22 Mar 2023	Ichthyosis and erythrokeratoderma v3.3		Eleanor Williams Panel version 3.2 has been signed off on 2023-03-22
22 Mar 2023	Ichthyosis and erythrokeratoderma v3.2		Eleanor Williams Panel signed off version 3.0 has been removed
22 Mar 2023	Ichthyosis and erythrokeratoderma v3.1		Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
22 Mar 2023	Ichthyosis and erythrokeratoderma v3.0		Sarah Leigh promoted panel to version 3.0
10 Feb 2023	Ichthyosis and erythrokeratoderma v2.13	KDSR	Achchuthan Shanmugasundram Added comment: Comment on publications: Additional case reported in PMID:34686882.
10 Feb 2023	Ichthyosis and erythrokeratoderma v2.13	KDSR	Achchuthan Shanmugasundram Publications for gene: KDSR were set to 28575652
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	GTF2E2	Arina Puzriakova Tag Q3_21_rating was removed from gene: GTF2E2.
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	GJA1	Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1.
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	ELOVL1	Arina Puzriakova Tag Q4_21_rating was removed from gene: ELOVL1.
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	TRPV3	Arina Puzriakova Tag Q2_21_rating was removed from gene: TRPV3. Tag Q2_21_expert_review was removed from gene: TRPV3.
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	TRPV3	Arina Puzriakova commented on gene: TRPV3
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	GTF2E2	Arina Puzriakova commented on gene: GTF2E2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	GJA1	Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.12	ELOVL1	Arina Puzriakova commented on gene: ELOVL1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.11	GTF2E2	Arina Puzriakova Source Expert Review Green was added to GTF2E2. Source NHS GMS was added to GTF2E2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.11	GJA1	Arina Puzriakova Source NHS GMS was added to GJA1. Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
31 Jan 2023	Ichthyosis and erythrokeratoderma v2.11	ELOVL1	Arina Puzriakova Source Expert Review Green was added to ELOVL1. Source NHS GMS was added to ELOVL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.10	SREBF1	Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: SREBF1.
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.10	SREBF1	Achchuthan Shanmugasundram Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221; Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.9	SREBF1	Achchuthan Shanmugasundram Publications for gene: SREBF1 were set to 32497488
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.8	SREBF1	Achchuthan Shanmugasundram Classified gene: SREBF1 as Amber List (moderate evidence)
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.8	SREBF1	Achchuthan Shanmugasundram Gene: srebf1 has been classified as Amber List (Moderate Evidence).
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.7	SREBF1	Achchuthan Shanmugasundram reviewed gene: SREBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31790666, 32497488, 32902915, 33253727, 33742461; Phenotypes: Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221, Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.7	PERP	Achchuthan Shanmugasundram edited their review of gene: PERP: Changed phenotypes to: Olmsted syndrome-2, MIM# 619208, MONDO:003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941, Ichthyosis, MONDO:0019269, Alopecia universalis, congenital hypotrichosis
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.7	PERP	Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; ichthyosis, MONDO:0019269 to Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; Ichthyosis, MONDO:0019269
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.6	PERP	Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Olmsted syndrome-2, MIM# 619208, MONDO_003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO_0030941; ichthyosis, MONDO:0019269 to Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; ichthyosis, MONDO:0019269
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.5	PERP	Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: PERP.
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.5	PERP	Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Erythrokeratoderma, no OMIM # yet to Olmsted syndrome-2, MIM# 619208, MONDO_003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO_0030941; ichthyosis, MONDO:0019269
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.4	PERP	Achchuthan Shanmugasundram Publications for gene: PERP were set to 31898316
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.3	PERP	Achchuthan Shanmugasundram Mode of inheritance for gene: PERP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.2	PERP	Achchuthan Shanmugasundram Classified gene: PERP as Amber List (moderate evidence)
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.2	PERP	Achchuthan Shanmugasundram Gene: perp has been classified as Amber List (Moderate Evidence).
09 Dec 2022	Ichthyosis and erythrokeratoderma v2.1	PERP	Achchuthan Shanmugasundram reviewed gene: PERP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898316, 30321533, 31361044, 34265120, 34863005, 32593191; Phenotypes: Olmsted syndrome-2, MIM# 619208, MONDO_003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO_0030941, ichthyosis, MONDO:0019269, Alopecia universalis, congenital hypotrichosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
30 Nov 2022	Ichthyosis and erythrokeratoderma v2.1		Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
30 Nov 2022	Ichthyosis and erythrokeratoderma v2.0		Eleanor Williams promoted panel to version 2.0
12 Oct 2022	Ichthyosis and erythrokeratoderma v1.73	TRPV3	Eleanor Williams commented on gene: TRPV3
12 Oct 2022	Ichthyosis and erythrokeratoderma v1.73	TRPV3	Eleanor Williams Tag Q2_21_expert_review tag was added to gene: TRPV3.
03 Aug 2022	Ichthyosis and erythrokeratoderma v1.73	ALDH1L2	Catherine Snow Classified gene: ALDH1L2 as Red List (low evidence)
03 Aug 2022	Ichthyosis and erythrokeratoderma v1.73	ALDH1L2	Catherine Snow Added comment: Comment on list classification: Rating red. One individual reported with neuro-ichthyotic syndrome phenotype of congenital ichthyosis with a variant in ALDH1L2 therefore not enough evidence to ascertain gene disease relationship
03 Aug 2022	Ichthyosis and erythrokeratoderma v1.73	ALDH1L2	Catherine Snow Gene: aldh1l2 has been classified as Red List (Low Evidence).
16 Mar 2022	Ichthyosis and erythrokeratoderma v1.72	ISCA-37417-Loss	Arina Puzriakova commented on Region: ISCA-37417-Loss
16 Mar 2022	Ichthyosis and erythrokeratoderma v1.72	ISCA-37417-Loss	Arina Puzriakova GRCh38 position for ISCA-37417-Loss was changed from 6537771-8156914 to 6537771-8156913. Required Overlap Percentage for ISCA-37417-Loss was changed from 80 to 60.
09 Mar 2022	Ichthyosis and erythrokeratoderma v1.71	ASPRV1	Arina Puzriakova Tag Q2_21_rating was removed from gene: ASPRV1. Tag Q4_21_NHS_review was removed from gene: ASPRV1.
09 Mar 2022	Ichthyosis and erythrokeratoderma v1.71	ALDH3A2	Arina Puzriakova Tag Q3_21_rating was removed from gene: ALDH3A2. Tag Q3_21_NHS_review was removed from gene: ALDH3A2.
09 Mar 2022	Ichthyosis and erythrokeratoderma v1.71	ASPRV1	Arina Puzriakova commented on gene: ASPRV1
09 Mar 2022	Ichthyosis and erythrokeratoderma v1.71	ALDH3A2	Arina Puzriakova commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
09 Mar 2022	Ichthyosis and erythrokeratoderma v1.70	ASPRV1	Arina Puzriakova Source Expert Review Green was added to ASPRV1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
09 Mar 2022	Ichthyosis and erythrokeratoderma v1.70	ALDH3A2	Arina Puzriakova Source Expert Review Green was added to ALDH3A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
13 Dec 2021	Ichthyosis and erythrokeratoderma v1.69	ALDH3A2	Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: ALDH3A2.
23 Nov 2021	Ichthyosis and erythrokeratoderma v1.69	ELOVL1	Arina Puzriakova Entity copied from Hereditary spastic paraplegia - childhood onset v2.107
23 Nov 2021	Ichthyosis and erythrokeratoderma v1.69	ELOVL1	Arina Puzriakova gene: ELOVL1 was added gene: ELOVL1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list,Expert Review Amber missense, Q4_21_rating tags were added to gene: ELOVL1. Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL1 were set to 23689133; 29496980; 30487246; 32123819 Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
17 Nov 2021	Ichthyosis and erythrokeratoderma v1.68	ASPRV1	Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: ASPRV1.
01 Nov 2021	Ichthyosis and erythrokeratoderma v1.68	DSC2	Ivone Leong Deleted their review
01 Nov 2021	Ichthyosis and erythrokeratoderma v1.68	DSC2	Ivone Leong Deleted their comment
21 Oct 2021	Ichthyosis and erythrokeratoderma v1.68	ASPRV1	Tom Cullup reviewed gene: ASPRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32516568; Phenotypes: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Sep 2021	Ichthyosis and erythrokeratoderma v1.68	GTF2E2	Arina Puzriakova Classified gene: GTF2E2 as Amber List (moderate evidence)
30 Sep 2021	Ichthyosis and erythrokeratoderma v1.68	GTF2E2	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - two distinct homozygous variants identified in 5 individuals from 4 families who all had ichthyosis among other features. Supportive in vitro studies that demonstrate functional impairment.
30 Sep 2021	Ichthyosis and erythrokeratoderma v1.68	GTF2E2	Arina Puzriakova Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).
30 Sep 2021	Ichthyosis and erythrokeratoderma v1.67	GTF2E2	Arina Puzriakova gene: GTF2E2 was added gene: GTF2E2 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Q3_21_rating tags were added to gene: GTF2E2. Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 26996949; 28973399 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 Review for gene: GTF2E2 was set to GREEN Added comment: Four individuals from 3 different Moroccan families with the same homozygous variant (c.C559T) in the GTF2E2 gene have been identified, as well as an additional patient from Asian origin with a distinct homozygous variant (c.448G>C). Predominant phenotype was that of trichothiodystrophy; however, all 5 individuals also had ID/DD, microcephaly and ichthyosis - and therefore adding GTF2E2 to these relevant panel. Sources: Literature
31 Aug 2021	Ichthyosis and erythrokeratoderma v1.66	GJA1	Arina Puzriakova Tag Q3_21_expert_review was removed from gene: GJA1.
31 Aug 2021	Ichthyosis and erythrokeratoderma v1.66	GJA1	Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged).; to: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update. GJA1 was imported to this panel from the 'Palmoplantar keratoderma and erythrokeratodermas' 100K panel and the MOI reflects the mixed inheritance pattern associated with GJA1 oculodentodigital dysplasia (ODDD) (dominant - MIM:164200; recessive - MIM:257850) which can manifest with PPK. Following the uncoupling of PPK and erythrokeratodermas into two separate GMS panels (R165 & R166), only monoallelic variants remain relevant to this particular panel. Monoallelic variants can cause erythrokeratodermia variabilis et progressiva 3 (MIM: 617525). Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM:104100), also associated with heterozygous variants.
31 Aug 2021	Ichthyosis and erythrokeratoderma v1.66	GJA1	Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100
31 Aug 2021	Ichthyosis and erythrokeratoderma v1.65	GJA1	Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1. Tag Q3_21_expert_review tag was added to gene: GJA1.
31 Aug 2021	Ichthyosis and erythrokeratoderma v1.65	GJA1	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged).
31 Aug 2021	Ichthyosis and erythrokeratoderma v1.65	GJA1	Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Aug 2021	Ichthyosis and erythrokeratoderma v1.64	ALDH3A2	Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Denise Williams (BWC_NHS). Ichthyosis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). Cutaneous abnormalities are often the first clinical sign to be noted. There are sufficient unrelated cases (>3) to rate as Green on this panel.; to: Comment on list classification: New gene added by Denise Williams (BWC_NHS). Ichthyosis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). Cutaneous abnormalities are often the first clinical sign to be noted. There are sufficient unrelated cases (>3) to rate as Green at the next GMS panel update.
24 Aug 2021	Ichthyosis and erythrokeratoderma v1.64	ALDH3A2	Arina Puzriakova Classified gene: ALDH3A2 as Amber List (moderate evidence)
24 Aug 2021	Ichthyosis and erythrokeratoderma v1.64	ALDH3A2	Arina Puzriakova Gene: aldh3a2 has been classified as Amber List (Moderate Evidence).
24 Aug 2021	Ichthyosis and erythrokeratoderma v1.63	ALDH3A2	Arina Puzriakova Tag Q3_21_rating tag was added to gene: ALDH3A2.
24 Aug 2021	Ichthyosis and erythrokeratoderma v1.63	ALDH3A2	Arina Puzriakova Entity copied from Autosomal recessive congenital ichthyosis v1.13
24 Aug 2021	Ichthyosis and erythrokeratoderma v1.63	ALDH3A2	Arina Puzriakova gene: ALDH3A2 was added gene: ALDH3A2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 9829906; 16476818; 25784589; 27547594; 29071827; 29183715; 29375833; 29704247; 30157790; 30403285; 31273323; 31388754; 31944864; 32930514; 34082469; 34315315 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200 Penetrance for gene: ALDH3A2 were set to Complete
10 Aug 2021	Ichthyosis and erythrokeratoderma v1.62	ASPRV1	Arina Puzriakova Classified gene: ASPRV1 as Amber List (moderate evidence)
10 Aug 2021	Ichthyosis and erythrokeratoderma v1.62	ASPRV1	Arina Puzriakova Gene: asprv1 has been classified as Amber List (Moderate Evidence).
10 Aug 2021	Ichthyosis and erythrokeratoderma v1.61	ASPRV1	Arina Puzriakova Phenotypes for gene: ASPRV1 were changed from palmoplantar keratoderma; lamellar ichthyosis to Ichthyosis, lamellar, autosomal dominant, OMIM:146750
26 May 2021	Ichthyosis and erythrokeratoderma v1.60	ASPRV1	Catherine Snow Tag Q2_21_rating tag was added to gene: ASPRV1.
26 May 2021	Ichthyosis and erythrokeratoderma v1.60	ASPRV1	Catherine Snow reviewed gene: ASPRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32516568; Phenotypes: Ichthyosis, lamellar, autosomal dominant, OMIM #146750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 May 2021	Ichthyosis and erythrokeratoderma v1.60	TRPV3	Catherine Snow Tag Q2_21_NHS_review was removed from gene: TRPV3.
26 May 2021	Ichthyosis and erythrokeratoderma v1.60	TRPV3	Catherine Snow Tag Q2_21_rating tag was added to gene: TRPV3. Tag Q2_21_NHS_review tag was added to gene: TRPV3.
26 May 2021	Ichthyosis and erythrokeratoderma v1.60	TRPV3	Catherine Snow reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
15 Apr 2021	Ichthyosis and erythrokeratoderma v1.60	ALDH1L2	Zornitza Stark gene: ALDH1L2 was added gene: ALDH1L2 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ALDH1L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1L2 were set to 31341639; 33168096 Phenotypes for gene: ALDH1L2 were set to pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks Review for gene: ALDH1L2 was set to RED Added comment: Individual reported with bialleleic ALDH1L2 variants (non-canonical splice and a frameshift mutation), who also has a de novo hemizygous RPS6KA3 frameshift mutation. Authors state that not all features of the individual could be explained by the RPS6KA3 variant, and that consideration of Coffin-Lowry sysndrome was only made after identification of the RPS6KA3 variant. Therefore individual has there is a blended phenotype of Coffin–Lowry syndrome and Sjögren–Larsson syndrome. From functional studies authors propose that the ALDH1L2 loss induces mitochondrial dysfunction due to reduced NADPH and increased oxidative stress (PMID: 31341639). Knockout mouse model was viable and did not show an apparent phenotype, however metabolomic analysis showed vastly changed metabotypes in the liver and plasma in these mice suggesting channeling of fatty acids away from β-oxidation. Authors therefore postulate that the role of ALDH1L2 in the lipid metabolism explains why the loss of this enzyme is associated with neuro-cutaneous disease. Sources: Literature
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.60	SMARCAD1	Ivone Leong Phenotypes for gene: SMARCAD1 were changed from Basan syndrome, 129200; palmoplantar keratoderma to Basan syndrome, OMIM:129200; palmoplantar keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.59	KRT2	Ivone Leong Phenotypes for gene: KRT2 were changed from to Ichthyosis bullosa of Siemens, OMIM:146800
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.58	TRPV3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques;?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400;Olmsted syndrome, 614594
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.58	TRPV3	Ivone Leong Phenotypes for gene: TRPV3 were changed from Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 to ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400; Olmsted syndrome, OMIM:614594
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.57	TGM1	Ivone Leong Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 to Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.56	TAT	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: palmoplantar hyperkeratosis;KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;Tyrosinemia, type II, 276600
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.56	TAT	Ivone Leong Phenotypes for gene: TAT were changed from palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600 to Tyrosinemia, type II, OMIM:276600
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.55	STS	Ivone Leong Phenotypes for gene: STS were changed from Ichthyosis, X-linked, 308100 to Ichthyosis, X-linked, OMIM:308100
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.54	ST14	Ivone Leong Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400 to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.53	SPINK5	Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM: 256500
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.52	SNAP29	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: CEDNIK syndrome;Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.52	SNAP29	Ivone Leong Phenotypes for gene: SNAP29 were changed from CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.51	SLURP1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: keratosis palmoplantaris transgrediens;Diffuse palmoplantar keratoderma;palmoplantar keratoderma;Mal de Meleda (MDM);Meleda disease, 248300
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.51	SLURP1	Ivone Leong Phenotypes for gene: SLURP1 were changed from keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300 to Meleda disease, OMIM:248300
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.50	SLC27A4	Ivone Leong Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome, 608649 to Ichthyosis prematurity syndrome, OMIM:608649
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.49	SERPINB7	Ivone Leong Phenotypes for gene: SERPINB7 were changed from palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598 to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, OMIM:615598
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.48	SDR9C7	Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 617574 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.47	RSPO1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: palmoplantar keratoderma;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644;Palmoplantar hyperkeratosis and true hermaphroditism, 610644
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.47	RSPO1	Ivone Leong Phenotypes for gene: RSPO1 were changed from palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644; Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.46	RHBDF2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Howel-Evans syndrome;tylosis with oesophageal cancer;PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;oral leukokeratosis;Focal keratoderma;Hyperkeratosis, diffuse palmoplantar (tylosis);tylosis with esophageal cancer, 148500;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.46	RHBDF2	Ivone Leong Phenotypes for gene: RHBDF2 were changed from Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER to Tylosis with esophageal cancer, OMIM:148500
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.45	PNPLA1	Ivone Leong Phenotypes for gene: PNPLA1 were changed from Ichthyosis, congenital, autosomal recessive 10, 615024 to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.44	PIGL	Ivone Leong Phenotypes for gene: PIGL were changed from to CHIME syndrome, OMIM:280000
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.43	NIPAL4	Ivone Leong Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.42	LOR	Ivone Leong Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, OMIM:604117
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.41	KRT9	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma;Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.41	KRT9	Ivone Leong Phenotypes for gene: KRT9 were changed from Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK) to Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, OMIM:144200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.40	KRT6C	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Focal keratoderma;Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735;dystrophic nails
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.40	KRT6C	Ivone Leong Phenotypes for gene: KRT6C were changed from Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.39	KRT6B	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: pachyonychia congenita type 2 (PC-2);Pachyonychia congenita 4, 615728;PC4
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.39	KRT6B	Ivone Leong Phenotypes for gene: KRT6B were changed from pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4 to Pachyonychia congenita 4, OMIM:615728
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.38	KRT6A	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;Pachyonychia congenital;Pachyonychia Congenita, Type 1
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.38	KRT6A	Ivone Leong Phenotypes for gene: KRT6A were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1 to Pachyonychia congenita 3, OMIM:615726
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.37	KRT17	Ivone Leong Phenotypes for gene: KRT17 were changed from Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 to Steatocystoma multiplex, OMIM:184500; Pachyonychia congenita 2, OMIM:167210
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.36	KRT16	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;focal non-epidermolytic palmoplantar keratoderma (NEPPK);striate keratoderma (palmar);Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal keratoderma (palmar);Focal keratoderma;FNEPPK1;Pachyonychia congenita (PC)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.36	KRT16	Ivone Leong Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.35	KRT14	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Naegeli-Franceschetti-Jadassohn syndrome, 161000;palmoplantar keratoderma;Dermatopathia pigmentosa reticularis, 125595;Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.35	KRT14	Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.34	KRT10	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.34	KRT10	Ivone Leong Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.33	KRT1	Ivone Leong Added comment: Comment on phenotypes: Prevous phenotype: Palmoplantar keratoderma, nonepidermolytic, 600962;Palmoplantar keratoderma, epidermolytic, 1;Ichthyosis histrix, Curth-Macklin type, 146590;Epidermolytic hyperkeratosis, 113800;Diffuse palmoplantar keratoderma;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602;triate keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.33	KRT1	Ivone Leong Phenotypes for gene: KRT1 were changed from Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma to Palmoplantar keratoderma, nonepidermolytic, OMIM:600962; Palmoplantar keratoderma, epidermolytic, OMIM:; 600962; Ichthyosis histrix, Curth-Macklin type, OMIM:146590; Epidermolytic hyperkeratosis, OMIM:113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.32	KDSR	Ivone Leong Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4, 617526 to Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.31	JUP	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR;palmoplantar keratoderma (PPK), keratoderma with woolly hair;Naxos disease, 601214;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.31	JUP	Ivone Leong Phenotypes for gene: JUP were changed from WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY to Naxos disease, OMIM:601214
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.30	GJB6	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;palmoplantar hyperkeratosis;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.30	GJB6	Ivone Leong Phenotypes for gene: GJB6 were changed from Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT to Ectodermal dysplasia 2, Clouston type, OMIM:129500
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.29	GJB4	Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2, 617524 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.28	GJB3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Erythrokeratoderma;deafness;Erythrokeratodermia variabilis et progressiva, 133200;peripheral neuropathy;Erythrokeratodermia Variabilis
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.28	GJB3	Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis to Erythrokeratodermia variabilis et progressiva, OMIM:133200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.27	GJB2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hystrix-like ichthyosis with deafness, 602540;Keratoderma, palmoplantar, with deafness, 148350;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Keratitis-ichthyosis-deafness syndrome, 148210;Vohwinkel syndrome, 124500;Keratoderma with deafness;Bart-Pumphrey syndrome, 149200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.27	GJB2	Ivone Leong Phenotypes for gene: GJB2 were changed from Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 to Hystrix-like ichthyosis with deafness, OMIM:602540; Keratoderma, palmoplantar, with deafness, OMIM:148350; Keratitis-ichthyosis-deafness syndrome, OMIM:148210; Vohwinkel syndrome, OMIM:24500; Bart-Pumphrey syndrome, OMIM:149200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.26	GJA1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: keratoderma, hypotrichosis and leukonychia;Palmoplantar keratoderma with congenital alopecia, 104100;Erythrokeratoderma;Erythrokeratodermia variabilis et progressiva 3, 617525;Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma;Palmoplantar keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.26	GJA1	Ivone Leong Phenotypes for gene: GJA1 were changed from keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.25	FLG2	Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM: 618084
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.24	FLG	Ivone Leong Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris, OMIM:146700
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.23	ENPP1	Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.22	DSP	Ivone Leong Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676; Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.21	DSP	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Skin fragility-woolly hair syndrome;Keratosis palmoplantaris striata II, 612908;lethal acantholytic epidermolysis bullosa, 609638;Striate keratoderma with woolly hair and cardiomyopathy;Skin fragility-woolly hair syndrome, 607655;oligodontia or hypodontia;alopecia, follicular hyperkeratoses and keratoderma;diffuse keratoderma;Epidermolysis bullosa, lethal acantholytic;striate keratoderma;CARVAJAL SYNDROME;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II;Dilated cardiomyopathy with woolly hair and keratoderma, 605676
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.21	DSP	Ivone Leong Phenotypes for gene: DSP were changed from Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.20	DSG1	Ivone Leong Phenotypes for gene: DSG1 were changed from Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700 to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.19	DSC2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Arrhythmogenic right ventricular dysplasia 11, 610476;Striate keratoderma with woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.19	DSC2	Ivone Leong Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.18	CYP4F22	Ivone Leong Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.17	CERS3	Ivone Leong Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.16	CLDN1	Ivone Leong Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.15	CAST	Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.14	CAST	Ivone Leong Publications for gene: CAST were set to
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.13	CARD14	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: familial pityriasis rubra pilaris;Pityriasis rubra pilaris, 173200;keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.13	CARD14	Ivone Leong Phenotypes for gene: CARD14 were changed from familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma to Pityriasis rubra pilaris, OMIM:173200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.12	AQP5	Ivone Leong Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type, 600231 to Palmoplantar keratoderma, Bothnian type, OMIM:600231
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.11	ALOX12B	Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.10	ALOXE3	Ivone Leong Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545; congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.9	ALOXE3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Most patients present with collodion membrane at birth and have palmoplantar keratoderma;Ichthyosis, congenital, autosomal recessive 3, 606545;Nonbullous congenital ichthyosiform erythroderma (NBCIE)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.9	ALOXE3	Ivone Leong Phenotypes for gene: ALOXE3 were changed from Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.8	ABCA12	Ivone Leong Phenotypes for gene: ABCA12 were changed from Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 to Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500; Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.7	AAGAB	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Keratoderma, palmoplantar, punctate type IA, 148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip;Punctate keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.7	AAGAB	Ivone Leong Phenotypes for gene: AAGAB were changed from Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma to Keratoderma, palmoplantar, punctate type IA, OMIM:148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip
05 Mar 2021	Ichthyosis and erythrokeratoderma v1.6	PERP	Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair. Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
29 Jan 2021	Ichthyosis and erythrokeratoderma v1.6	MSMO1	Arina Puzriakova Phenotypes for gene: MSMO1 were changed from to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
28 Jan 2021	Ichthyosis and erythrokeratoderma v1.5	SULT2B1	Arina Puzriakova Phenotypes for gene: SULT2B1 were changed from Ichthyosis, congenital, autosomal recessive 14 617571 to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
15 Oct 2020	Ichthyosis and erythrokeratoderma v1.4		Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off Panel version has been signed off
12 Aug 2020	Ichthyosis and erythrokeratoderma v1.3	TRPV3	Zornitza Stark reviewed gene: TRPV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jul 2020	Ichthyosis and erythrokeratoderma v1.3	ASPRV1	Zornitza Stark gene: ASPRV1 was added gene: ASPRV1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ASPRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASPRV1 were set to 32516568 Phenotypes for gene: ASPRV1 were set to palmoplantar keratoderma; lamellar ichthyosis Review for gene: ASPRV1 was set to GREEN gene: ASPRV1 was marked as current diagnostic Added comment: -3 heterozygous missense variants identified across 4 unrelated kindreds -mutant ASPRV1 expressed in human keratinocytes suggests impaired filaggrin processing Sources: Literature
06 Jul 2020	Ichthyosis and erythrokeratoderma v1.3	SREBF1	Zornitza Stark gene: SREBF1 was added gene: SREBF1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 32497488 Phenotypes for gene: SREBF1 were set to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome Review for gene: SREBF1 was set to GREEN Added comment: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples. Sources: Literature
04 Jun 2020	Ichthyosis and erythrokeratoderma v1.3	PERP	Zornitza Stark gene: PERP was added gene: PERP was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: PERP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PERP were set to 31898316 Phenotypes for gene: PERP were set to Erythrokeratoderma, no OMIM # yet Review for gene: PERP was set to AMBER Added comment: One extended multiplex consanguineous family with Erythrokeratoderma (striking similarity to that observed in Perp −/− mice), and a novel homozygous variant (c.466G>A; p.Gly156Arg) in PERP that fully segregated with the phenotype. Functional analysis of patient‐ and control‐derived keratinocytes revealed a deleterious effect of the identified variant on the intracellular localization of PERP. A previous report showed that PERP mutation causes a dominant form of keratoderma but a single patient in that report with a homozygous variant in PERP suggests that recessive inheritance is also possible. Sources: Literature
19 Feb 2020	Ichthyosis and erythrokeratoderma v1.3		Sarah Leigh Panel version has been signed off
18 Dec 2019	Ichthyosis and erythrokeratoderma v1.0	LOR	Louise Daugherty Tag new-gene-name tag was added to gene: LOR.
18 Dec 2019	Ichthyosis and erythrokeratoderma v1.0	LOR	Louise Daugherty commented on gene: LOR
12 Dec 2019	Ichthyosis and erythrokeratoderma v1.0		Catherine Snow promoted panel to version 1.0
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.19		Catherine Snow List of related panels changed from to R165 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.18	FLG2	Catherine Snow Classified gene: FLG2 as Green List (high evidence)
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.18	FLG2	Catherine Snow Added comment: Comment on list classification: Sufficient number of variants in OMIM to rate as Green
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.18	FLG2	Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.17	SPINK5	Catherine Snow Classified gene: SPINK5 as Green List (high evidence)
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.17	SPINK5	Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM to promote to Green
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.17	SPINK5	Catherine Snow Gene: spink5 has been classified as Green List (High Evidence).
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.16	PIGL	Catherine Snow Classified gene: PIGL as Green List (high evidence)
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.16	PIGL	Catherine Snow Added comment: Comment on list classification: Sufficient cases identified in OMIM
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.16	PIGL	Catherine Snow Gene: pigl has been classified as Green List (High Evidence).
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.15	CLDN1	Catherine Snow Classified gene: CLDN1 as Green List (high evidence)
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.15	CLDN1	Catherine Snow Added comment: Comment on list classification: Sufficient cases in OMIM
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.15	CLDN1	Catherine Snow Gene: cldn1 has been classified as Green List (High Evidence).
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.14	LOR	Catherine Snow Publications for gene: LOR were set to
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.13	LOR	Catherine Snow Classified gene: LOR as Green List (high evidence)
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.13	LOR	Catherine Snow Added comment: Comment on list classification: Sufficient number of variants identified in the literature to classify as Green.
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.13	LOR	Catherine Snow Gene: lor has been classified as Green List (High Evidence).
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.12	FLG	Catherine Snow Publications for gene: FLG were set to
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.11	FLG	Catherine Snow Classified gene: FLG as Green List (high evidence)
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.11	FLG	Catherine Snow Added comment: Comment on list classification: Sufficient evidence and phenotype to be relevant as Green in the panel
12 Dec 2019	Ichthyosis and erythrokeratoderma v0.11	FLG	Catherine Snow Gene: flg has been classified as Green List (High Evidence).
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	SPINK5	Catherine Snow reviewed gene: SPINK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	PIGL	Catherine Snow reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	FLG2	Catherine Snow reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	CLDN1	Catherine Snow reviewed gene: CLDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	FLG	Catherine Snow reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	LOR	Catherine Snow reviewed gene: LOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	MSMO1	Catherine Snow reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
09 Sep 2019	Ichthyosis and erythrokeratoderma v0.10	KRT2	Catherine Snow reviewed gene: KRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	SPINK5	Catherine Snow gene: SPINK5 was added gene: SPINK5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	PIGL	Catherine Snow gene: PIGL was added gene: PIGL was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	FLG2	Catherine Snow gene: FLG2 was added gene: FLG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	CLDN1	Catherine Snow gene: CLDN1 was added gene: CLDN1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	FLG	Catherine Snow gene: FLG was added gene: FLG was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	LOR	Catherine Snow gene: LOR was added gene: LOR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	MSMO1	Catherine Snow gene: MSMO1 was added gene: MSMO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
02 Sep 2019	Ichthyosis and erythrokeratoderma v0.9	KRT2	Catherine Snow gene: KRT2 was added gene: KRT2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.4	POMP	Ellen McDonagh Tag promoter tag was added to gene: POMP.
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.4	SMARCAD1	Ellen McDonagh Tag watchlist tag was added to gene: SMARCAD1.
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	TRPV3	Ellen McDonagh gene: TRPV3 was added gene: TRPV3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV3 were set to 25285920 Phenotypes for gene: TRPV3 were set to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	TGM1	Ellen McDonagh gene: TGM1 was added gene: TGM1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	TAT	Ellen McDonagh gene: TAT was added gene: TAT was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SULT2B1	Ellen McDonagh gene: SULT2B1 was added gene: SULT2B1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SULT2B1 were set to 28575648 Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 617571
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	STS	Ellen McDonagh gene: STS was added gene: STS was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: STS 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: STS were set to Ichthyosis, X-linked, 308100
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	ST14	Ellen McDonagh gene: ST14 was added gene: ST14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SNAP29	Ellen McDonagh gene: SNAP29 was added gene: SNAP29 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAP29 were set to 25958742; 21073448; 15968592 Phenotypes for gene: SNAP29 were set to CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SMARCAD1	Ellen McDonagh gene: SMARCAD1 was added gene: SMARCAD1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCAD1 were set to 24909267; 26932190; 24664640 Phenotypes for gene: SMARCAD1 were set to Basan syndrome, 129200; palmoplantar keratoderma
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SLURP1	Ellen McDonagh gene: SLURP1 was added gene: SLURP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SLURP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLURP1 were set to 16865292; 24738704; 14756676; 9887370; 25557416; 12483299; 24985918; 19692209; 17184264; 24604124; 16882192; 15026760; 11285253; 21690549; 23290002; 19120323 Phenotypes for gene: SLURP1 were set to keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SLC27A4	Ellen McDonagh gene: SLC27A4 was added gene: SLC27A4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome, 608649
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SERPINB7	Ellen McDonagh gene: SERPINB7 was added gene: SERPINB7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB7 were set to 27666198; 26926003; 24207119; 25788444; 24514002; 24773080; 25940237; 26763456; 25029323; 28211129 Phenotypes for gene: SERPINB7 were set to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SDR9C7	Ellen McDonagh gene: SDR9C7 was added gene: SDR9C7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDR9C7 were set to 28173123; 28369735 Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 617574
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	SASH1	Ellen McDonagh gene: SASH1 was added gene: SASH1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASH1 were set to 25315659 Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma and skin carcinoma
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	RSPO1	Ellen McDonagh gene: RSPO1 was added gene: RSPO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPO1 were set to palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	RHBDF2	Ellen McDonagh gene: RHBDF2 was added gene: RHBDF2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHBDF2 were set to 22265016; 22638770 Phenotypes for gene: RHBDF2 were set to Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER Mode of pathogenicity for gene: RHBDF2 was set to Other - please provide details in the comments
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	POMP	Ellen McDonagh gene: POMP was added gene: POMP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMP were set to 27503413; 20226437 Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	PNPLA1	Ellen McDonagh gene: PNPLA1 was added gene: PNPLA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA1 were set to 24344921; 6691440; 26778108 Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	NIPAL4	Ellen McDonagh gene: NIPAL4 was added gene: NIPAL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	MT-TS1	Ellen McDonagh gene: MT-TS1 was added gene: MT-TS1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL Publications for gene: MT-TS1 were set to 9450881 Phenotypes for gene: MT-TS1 were set to Keratoderma, Palmoplantar, with deafness; palmoplantar keratoderma with deafness
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	MBTPS2	Ellen McDonagh gene: MBTPS2 was added gene: MBTPS2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MBTPS2 were set to 22931912; 24313295 Phenotypes for gene: MBTPS2 were set to X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome); ?Olmsted syndrome, X-linked, 300918; IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	LIPN	Ellen McDonagh gene: LIPN was added gene: LIPN was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPN were set to 21439540 Phenotypes for gene: LIPN were set to Ichthyosis, congenital, autosomal recessive 8, 613943
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	LIPH	Ellen McDonagh gene: LIPH was added gene: LIPH was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: LIPH was set to Phenotypes for gene: LIPH were set to Woolly hair/hypotrichosis syndrome
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT9	Ellen McDonagh gene: KRT9 was added gene: KRT9 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT9 were set to 7511021; 12838553; 21410681; 7512862; 7532199 Phenotypes for gene: KRT9 were set to Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK)
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT6C	Ellen McDonagh gene: KRT6C was added gene: KRT6C was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6C were set to 19609311 Phenotypes for gene: KRT6C were set to Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails Mode of pathogenicity for gene: KRT6C was set to Other - please provide details in the comments
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT6B	Ellen McDonagh gene: KRT6B was added gene: KRT6B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6B were set to 16250204; 9618173 Phenotypes for gene: KRT6B were set to pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT6A	Ellen McDonagh gene: KRT6A was added gene: KRT6A was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6A were set to 16250204; 7545493; 22098151 Phenotypes for gene: KRT6A were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT17	Ellen McDonagh gene: KRT17 was added gene: KRT17 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT17 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KRT17 were set to 15102078; 22336949; 9008238; 7539673; 19659471 Phenotypes for gene: KRT17 were set to Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT16	Ellen McDonagh gene: KRT16 was added gene: KRT16 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 21160496; 8595410; 21790523; 7539673 Phenotypes for gene: KRT16 were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC)
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT14	Ellen McDonagh gene: KRT14 was added gene: KRT14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT14 were set to 9804355 Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT10	Ellen McDonagh gene: KRT10 was added gene: KRT10 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KRT1	Ellen McDonagh gene: KRT1 was added gene: KRT1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT1 were set to 12406346; 11286630; 7528239 Phenotypes for gene: KRT1 were set to Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KDSR	Ellen McDonagh gene: KDSR was added gene: KDSR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDSR were set to 28575652 Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, 617526
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	KANK2	Ellen McDonagh gene: KANK2 was added gene: KANK2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KANK2 were set to 24671081 Phenotypes for gene: KANK2 were set to PPKWH; Palmoplantar keratoderma and woolly hair, 616099
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	JUP	Ellen McDonagh gene: JUP was added gene: JUP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JUP were set to 20130592; 10902626; 21668431 Phenotypes for gene: JUP were set to WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	ISCA-37417-Loss	Ellen McDonagh Region: ISCA-37417-Loss was added Region: ISCA-37417-Loss was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for Region: ISCA-37417-Loss were set to 308100; Ichthyosis, X-linked
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	GJB6	Ellen McDonagh gene: GJB6 was added gene: GJB6 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJB6 were set to 8845850; 11874494 Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	GJB4	Ellen McDonagh gene: GJB4 was added gene: GJB4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJB4 were set to 22266302; 21950330; 26826093; 23037955 Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis et progressiva 2, 617524
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	GJB3	Ellen McDonagh gene: GJB3 was added gene: GJB3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJB3 were set to 12019212; 9843209; 21564177; 10594760 Phenotypes for gene: GJB3 were set to Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	GJB2	Ellen McDonagh gene: GJB2 was added gene: GJB2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	GJA1	Ellen McDonagh gene: GJA1 was added gene: GJA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJA1 were set to 25388818; 25964267; 25168385; 16891658; 17256797; 25398053 Phenotypes for gene: GJA1 were set to keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma Mode of pathogenicity for gene: GJA1 was set to Other - please provide details in the comments
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	FAM83G	Ellen McDonagh gene: FAM83G was added gene: FAM83G was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma with leukonychia and abundant curly hair
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	ENPP1	Ellen McDonagh gene: ENPP1 was added gene: ENPP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENPP1 were set to 26617416; 24075184; 19380683 Phenotypes for gene: ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma)
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	ELOVL4	Ellen McDonagh gene: ELOVL4 was added gene: ELOVL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELOVL4 were set to 24566826; 26010696 Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	DSP	Ellen McDonagh gene: DSP was added gene: DSP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DSP were set to 22795705; 11841538; 16628197; 19924139; 11063735; 20940358; 26303123; 10594734; 20738328; 16175511; 25516398 Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	DSG2	Ellen McDonagh gene: DSG2 was added gene: DSG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB; Striate keratoderma with woolly hair
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	DSG1	Ellen McDonagh gene: DSG1 was added gene: DSG1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 27534273 Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	DSC2	Ellen McDonagh gene: DSC2 was added gene: DSC2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: DSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSC2 were set to 18957847 Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	DES	Ellen McDonagh gene: DES was added gene: DES was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DES were set to Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	CYP4F22	Ellen McDonagh gene: CYP4F22 was added gene: CYP4F22 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	CERS3	Ellen McDonagh gene: CERS3 was added gene: CERS3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS3 were set to 23549421; 23754960 Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	CAST	Ellen McDonagh gene: CAST was added gene: CAST was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	CARD14	Ellen McDonagh gene: CARD14 was added gene: CARD14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CARD14 were set to familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	AQP5	Ellen McDonagh gene: AQP5 was added gene: AQP5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AQP5 were set to 23830519; 27255181; 23867895 Phenotypes for gene: AQP5 were set to Palmoplantar keratoderma, Bothnian type, 600231
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	ALOXE3	Ellen McDonagh gene: ALOXE3 was added gene: ALOXE3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE)
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	ALOX12B	Ellen McDonagh gene: ALOX12B was added gene: ALOX12B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALOX12B were set to 11773004; 17139268; 19890349; 16116617 Phenotypes for gene: ALOX12B were set to Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	ABCA12	Ellen McDonagh gene: ABCA12 was added gene: ABCA12 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277
03 Jan 2019	Ichthyosis and erythrokeratoderma v0.3	AAGAB	Ellen McDonagh gene: AAGAB was added gene: AAGAB was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AAGAB were set to 23563198; 24289292; 23000146; 23064416 Phenotypes for gene: AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma
20 Dec 2018	Ichthyosis and erythrokeratoderma v0.2		Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
16 Nov 2018	Ichthyosis and erythrokeratoderma v0.0		Ellen McDonagh Added Panel Ichthyosis and erythrokeratoderma Set panel types to: GMS Rare Disease