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Ectodermal dysplasia v3.28 LEF1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated families reported with monoallelic variants and a single individual reported with biallelic variants. Hence, this gene should be promoted to green rating in the next GMS review and the MOI should be set as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.; to: Comment on list classification: There are four unrelated families reported with monoallelic variants and a single individual reported with biallelic variants. Hence, this gene should be promoted to green rating in the next GMS review and the MOI should be set as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Ectodermal dysplasia v3.27 LEF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families reported with monoallelic variants and a single individual reported with biallelic variants. Hence, this gene should be promoted to green rating in the next GMS review and the MOI should be set as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Ectodermal dysplasia v3.26 LEF1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Germline variants in this gene have not yet been associated with any phenotypes in OMIM, but monoallelic variants have been associated with LEF1-related ectodermal dysplasia and limb malformation in Gene2Phenotype ('moderate' rating on the DD panel).
Ectodermal dysplasia v3.23 KRT74 Arina Puzriakova Phenotypes for gene: KRT74 were changed from Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929; hypotrichosis simplex of the scalp; Hypotrichosis 3, 613981; HYPT3 to Woolly hair, autosomal dominant, OMIM:194300 (AD); ?Hypotrichosis 3, OMIM:613981 (AD); ?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR)
Ectodermal dysplasia v3.22 KRT83 Arina Puzriakova Added comment: Comment on list classification: KRT81 is associated with two relevant phenotypes in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification for monilethrix. Monoallelic variant have been linked to monilethrix in two families (PMID: 15744029; 25557232) while biallelic variants were found in one family with EKVP5 (PMID: 27965375).

Overall no additional evidence has been published since the last review and therefore going to maintain the amber rating for now, but adding a 'watchlist' tag to monitor for additional evidence that may lead to future upgrade to green.

Other keratin genes, like KRT81 and KRT86 have been added as amber with the recommendation of being made green at the next review.
Ectodermal dysplasia v3.19 KRT81 Arina Puzriakova Added comment: Comment on list classification: KRT81 is associated with a relevant phenotype in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification. Monoallelic variant have been linked to monilethrix. In addition to the two families previously discussed (PMID: 9665406; 9402962), there are an additional three unrelated cases reported in the literature (PMID: 10504448; 14714571; 25557232), particularly for recurrent variants at p.Glu413. KRT81 variants have been found in unaffected family members, suggesting reduced penetrance.
Overall there are sufficient cases to support an association with monilethrix, and therefore this gene can be promoted to Green at the next GMS panel update.
Ectodermal dysplasia v3.17 KRT86 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Ronnie Wright (NWGLH). KRT86 is associated with a relevant phenotype in OMIM (MIM# 158000) and G2P with a 'definitive' disease confidence classification. Monoallelic variant have been linked to monilethrix and multiple (>3) families have been reported in the literature. Overall there is enough evidence to promote this gene to Green at the next GMS panel update.
Ectodermal dysplasia v3.9 PPP1R13L Arina Puzriakova gene: PPP1R13L was added
gene: PPP1R13L was added to Ectodermal dysplasia. Sources: Literature
Q4_23_promote_green tags were added to gene: PPP1R13L.
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 28069640; 32666529; 35924320
Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Review for gene: PPP1R13L was set to GREEN
Added comment: Multiple individuals reported with variants in this gene. Phenotype consists of cardiac defects and variable ectodermal abnormalities affecting hair, skin and teeth. Given this is a prominent component of the phenotype in some cases and there are a sufficient number of individuals to support this gene-disease association, there is enough evidence to promote PPP1R13L to green status at the next GMS panel update.
Sources: Literature
Ectodermal dysplasia v3.8 KRT86 Ronnie Wright gene: KRT86 was added
gene: KRT86 was added to Ectodermal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT86 were set to PMID: 10469314; 10594761; 10504448; 12653715
Phenotypes for gene: KRT86 were set to Monilethrix
Penetrance for gene: KRT86 were set to Incomplete
Review for gene: KRT86 was set to GREEN
Added comment: We've had clinician enquiries in North West GLH about Keratin Genes associated with Monilethrix (see also KRT81 and KRT83) not being present in Ectodermal dysplasia panel. It may be worth reviewing the evidence for all 3 of these genes. There are few publications for KRT81 and KRT83 but I think there are sufficient for KRT86 and for all 3 genes the reported variants seem to be consistent with pathogenic enriched regions in Keratin genes (see PER viewer for whole Keratin gene family https://per.broadinstitute.org/).
Sources: NHS GMS
Ectodermal dysplasia v3.8 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from Limb-mammary syndrome, 603543; Rapp-Hodgkin Syndrome; ADULT syndrome, 103285; Orofac; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Orofacial cleft 8, 129400; Hay-Wells syndrome, 106260; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; Split-Hand/foot Malformation 4; Split-hand/foot malformation 4, 605289; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; Rapp-Hodgkin syndrome, 129400; Limb-Mammary Syndrome; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Adult Syndrome to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Ectodermal dysplasia v3.6 LRP6 Mafalda Gomes edited their review of gene: LRP6: Added comment: Massink et al. (2015) report the first association between LRP6 and oligodontia. LRP6 is a major component of the Wnt receptor complex in the canonical Wnt pathway. Other genes involved in this pathway, such as WNT10A, have been shown to be associated with oligodontia as well.
4 unrelated individuals with nonsyndromic oligodontia (12-20 missing teeth each) are reported: 3 carry heterozygous truncating variants in the LRP6 gene, and 1 carries a missense variant (p.Ala19Val) of a conserved residue located at the cleavage site of the protein's signal peptide. Functional studies showed that the missense variant results in altered glycosylation and improper subcellular localisation of the protein, resulting in abrogated activation of the Wnt pathway. Segregation studies confirmed presence of the variants in 6 additional affected family members across the 3 families with truncating variants. Incomplete penetrance was observed in the family of the individual with the missense variant, where the mother was found to be a carrier and is unaffected.
Lastly, an affected father and 2 daughters showed minor anatomical variation of the ear and underdevelopment of the thumb. No other anomalies described in the cohort.
Ockeloen et al. (2016) report 2 additional probands with oligodontia, one of which also had orofacial cleft, and perform a study among 67 patients with tooth agenesis, 1,073 patients with orofacial clefts, and 706 controls. They found significant enrichment of LRP6 rare variants in patients with tooth agenesis, but not in patients with nonsyndromic orofacial clefts. Five variants were identified in patients with tooth agenesis and shown to segregate in the 4 families (1 variant was de novo). Immunochemistry studies on embryonic mice showed that the gene is expressed in areas of bone formation, including the tooth follicle, suggesting a role in early tooth development.
Therefore, this gene should be promoted GREEN in this panel.; Changed rating: GREEN; Changed phenotypes to: Tooth agenesis, selective, 7, OMIM:616724
Ectodermal dysplasia v3.3 TUFT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER despite having three unrelated cases, as the variant found in two families is a founder variant in the Irish population.
Ectodermal dysplasia v3.2 TUFT1 Achchuthan Shanmugasundram gene: TUFT1 was added
gene: TUFT1 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFT1 were set to 36689522
Phenotypes for gene: TUFT1 were set to ectodermal dysplasia syndrome, MONDO:0019287
Review for gene: TUFT1 was set to AMBER
Added comment: PMID:36689522 reported nine individuals from three different families with biallelic variants in TUFT1 gene and presenting with woolly hair and skin fragility. One donor splice-site variant, c.60+1G>A, was present in two families, while a frameshift variant, p.Gln189Asnfs*49, was found in the third family. Haplotype analysis showed the c.60+1G>A variant is a founder variant in the Irish population. This is also supported by functional studies, mainly expression studies.

This gene has not yet been associated with any phenotypes in OMIM or in Gene2Phenotype.
Sources: Literature
Ectodermal dysplasia v2.8 RIPK4 Achchuthan Shanmugasundram changed review comment from: Comment on classification of gene: RIPK4 should be rated green as biallelic variants in this gene has been implicated in ectodermal dysplasias (ED) of varying severity in multiple (>3) unrelated patients and supported by functional studies.

This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.

The clinically distinct ED syndromes reported with RIPK4 variants include early lethal BPS (MIM #263650) and milder forms such as PPS and CHAND syndrome (MIM #214350). BPS1 is characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly and CHAND is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula.

PMID:35220430 reported two siblings with novel biallelic (compound heterozygous) variants presented with cutaneous syndactyly associated to hair defects, alopecia, nail dysplasia and hyperkeratosis. This phenotype expands the clinical spectrum of the disorder further and is intermediary between BPS and CHAND syndrome.
Sources: Literature; to: Comment on classification of gene: RIPK4 should be rated green as biallelic variants in this gene has been implicated in ectodermal dysplasias (ED) of varying severity in multiple (>3) unrelated patients and supported by functional studies.

This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.

The clinically distinct ED syndromes reported with RIPK4 variants include early lethal BPS (MIM #263650) and milder forms such as PPS and CHAND syndrome (MIM #214350). BPS1 is characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly and CHAND is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula.

PMID:35220430 reported two siblings with novel biallelic (compound heterozygous) variants presented with cutaneous syndactyly associated to hair defects, alopecia, nail dysplasia and hyperkeratosis. This phenotype expands the clinical spectrum of the disorder further and is intermediary between BPS and CHAND syndrome.
Sources: Literature
Ectodermal dysplasia v2.7 RIPK4 Achchuthan Shanmugasundram gene: RIPK4 was added
gene: RIPK4 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK4 were set to 26129644; 28940926; 33713555; 35220430
Phenotypes for gene: RIPK4 were set to CHAND syndrome, OMIM:214350; Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650; ectodermal dysplasia syndrome, MONDO:0019287
Review for gene: RIPK4 was set to GREEN
Added comment: Comment on classification of gene: RIPK4 should be rated green as biallelic variants in this gene has been implicated in ectodermal dysplasias (ED) of varying severity in multiple (>3) unrelated patients and supported by functional studies.

This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.

The clinically distinct ED syndromes reported with RIPK4 variants include early lethal BPS (MIM #263650) and milder forms such as PPS and CHAND syndrome (MIM #214350). BPS1 is characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly and CHAND is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula.

PMID:35220430 reported two siblings with novel biallelic (compound heterozygous) variants presented with cutaneous syndactyly associated to hair defects, alopecia, nail dysplasia and hyperkeratosis. This phenotype expands the clinical spectrum of the disorder further and is intermediary between BPS and CHAND syndrome.
Sources: Literature
Ectodermal dysplasia v2.2 SREBF1 Achchuthan Shanmugasundram gene: SREBF1 was added
gene: SREBF1 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF1 were set to 31790666; 32497488; 32902915; 33253727; 33742461
Phenotypes for gene: SREBF1 were set to Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221; Mucoepithelial dysplasia, hereditary, MIM# 158310, MONDO:0008017
Review for gene: SREBF1 was set to GREEN
Added comment: Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in both hereditary hair and skin conditions, as identified from monoallelic variants from at least 18 unrelated individuals/ families from multiple ethnicities, and supported by results from in vitro functional studies.

As reviewed by Zornitza Stark, heterozygous variants in 11 unrelated, ethnically diverse individuals has resulted in IFAP syndrome (MIM# 619016), which is characterised generally by moderate or severe hypotrichosis or atrichia (hair), ichthyosis follicularis (skin), and photophobia, Meibomian gland dysfunction, keratitis and/or cataract (eye) (PMID:32497488). Similarly, autosomal-dominant IFAP syndrome was also observed in another report of a Japanese woman and her daughter displaying heterozygous variant c.1669C>T (p.Arg557Cys) in SREBF1 gene (PMID:33253727).

Seven patients from four families displaying heterozygous variants of SREBF1 gene (c.1669C>T (p.Arg557Cys) and c.1670G>A (p.Arg557His)) were reported with HMD (MIM# 158310), which is characterised by chronic keratitis, non-scarring alopecia, mucosal erythema, keratosis pilaris, perineal erythematous intertrigo, psoriatic-like perineal plaques, and involvement of the conjunctival mucosa (PMID:31790666). There are also two other reports of patients with c.1669C>T (p.Arg557Cys) variant displaying autosomal-dominant HMD (PMID:32902915, PMID:33742461). The clinical indications of IFAP and HMD suggests that these two diseases share a common clinical spectrum.

The association of both IFAP and HMD to SREBF1 has been documented in OMIM. In addition, results from in vitro investigation of SREBP1 variants confirms the essential role of SREBF1 in epidermal differentiation, skin barrier formation, hair growth, and eye function (PMID:32497488).
Sources: Literature
Ectodermal dysplasia v1.40 PLEC Arina Puzriakova Phenotypes for gene: PLEC were changed from PLEC-related Epidermolysis Bullosa; Epidermolysis bullosa simplex, Ogna type, 131950; scarring alopecia; Epidermolysis bullosa simplex with muscular dystrophy, 226670; Epidermolysis bullosa simplex with pyloric atresia, 612138 to Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Ectodermal dysplasia v1.37 PRKD1 Catherine Snow changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS.
"Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"
Ectodermal dysplasia v1.32 HR Arina Puzriakova Phenotypes for gene: HR were changed from HYPT4; Marie Unna hereditary hypotrichosis 1 (MUHH1); Marie Unna hereditary hypotrichosis (MUHH); Hypotrichosis 4, 146550 to Marie Unna hereditary hypotrichosis (MUHH); Alopecia universalis, OMIM:203655; Atrichia with papular lesions, OMIM:209500
Ectodermal dysplasia v1.31 HR Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'monoallelic' to 'both mono- and biallelic'. Heterozygous variants in the 5'UTR of HR have been shown to cause Marie Unna hereditary hypotrichosis while homozygous variants have been associated with Alopecia universalis (MIM# 203655) and Atrichia with papular lesions (MIM# 209500), therefore both inheritance patterns are relevant to this panel.
Ectodermal dysplasia v1.29 AXIN2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Variants are associated with tooth agenesis (PMID: 15042511; 21626677; 30671715; 32807118), often additionally with colon polyps and colorectal cancer. Two families have been identified with concurrent ectodermal dysplasia including sparse or brittle hair and/or eyebrows and dry skin (PMID: 21416598; 34637023).

Given that in most families ectodermal features are isolated to oligodontia only, this gene will be flagged for GMS review to determine whether there is enough evidence to rate AXIN2 as Green on this panel.
Ectodermal dysplasia v1.27 AR Arina Puzriakova Phenotypes for gene: AR were changed from Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633; Spinal and bulbar muscular atrophy of Kennedy, 313200 to Androgen insensitivity, OMIM:300068; Androgen insensitivity, partial, with or without breast cancer, OMIM:312300; Hypospadias 1, X-linked, OMIM:300633; Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Ectodermal dysplasia v1.25 WNT10A Ivone Leong Phenotypes for gene: WNT10A were changed from Schopf-Schulz-Passarge syndrome, OMIM:224750; Odontoonychodermal dysplasia, OMIM:257980 to Schopf-Schulz-Passarge syndrome, OMIM:224750; Odontoonychodermal dysplasia, OMIM:257980
Ectodermal dysplasia v1.24 WNT10A Ivone Leong Phenotypes for gene: WNT10A were changed from Schopf-Schulz-Passarge syndrome 224750; Odontoonychodermal dysplasia 257980 to Schopf-Schulz-Passarge syndrome, OMIM:224750; Odontoonychodermal dysplasia, OMIM:257980
Ectodermal dysplasia v1.23 SNRPE Arina Puzriakova changed review comment from: Comment on list classification: With addition of a further case identified in the 100K Project, as highlighted by Gavin Ryan (WMRGL), there is now enough evidence to promote this gene to Green status at the next GMS panel update (tagged); to: Comment on list classification: With addition of a further case identified in the 100K Project, as highlighted by Gavin Ryan (WMRGL), there is now enough evidence to promote this gene to Green status at the next GMS panel update (tagged)

Pan et al. 2021 (PMID: 33792916) also recently reported on 3 further unrelated patients with hypotrichosis who were found to harbour two novel heterozygous variants (c.54+2T>A and c.221T>C), and one previously reported variant (c.1A>G), in SNRPE
Ectodermal dysplasia v1.20 LEF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Levy et al. 2020 (PMID: 32022899) report 2 patients with signs of ectodermal dysplasia harbouring de novo deletions that overlap only at the regions containing LEF1. Supportive mouse model. Rating Red as currently there is no evidence of SNVs in LEF1 relating to this phenotype.
Ectodermal dysplasia v1.19 ST14 Sarah Leigh Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, 602400; Some affected persons exhibit scarring alopecia to Ichthyosis, congenital, autosomal recessive 11 OMIM:602400; Some affected persons exhibit scarring alopecia
Ectodermal dysplasia v1.18 ST14 Sarah Leigh edited their review of gene: ST14: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in unrelated cases. There is considerable phenotypic overlap with ectodermal dysplasia according to Rachel Jones (see review).; Changed rating: GREEN
Ectodermal dysplasia v1.14 LSS Eleanor Williams gene: LSS was added
gene: LSS was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 32101538; 30401459; 30723320; 29016354
Phenotypes for gene: LSS were set to Hypotrichosis 14 OMIM:618275; hypotrichosis 14 MONDO:0032649
Review for gene: LSS was set to GREEN
Added comment: Associated with Hypotrichosis 14 618275 (AR) in OMIM.

PMID: 32101538 - Wada et al 2020 - report two siblings from a nonconsanguineous Japanese family with novel biallelic LSS mutations (compound het) who presented congenital hypotrichosis, midline anomalies, such as cleft palate and agenesis of the corpus callosum, and no cataracts. The motor and mental development of the patients were normal. They also created tissue specific knock-out mice as Lss constitutive knockout mice are embryonically lethal, and found epidermis-specific knockout of Lss caused hypotrichosis, lens-specific Lss knockout mice had cataracts.

PMID: 30723320 - Besnard et al 2019 - report 7 unrelated families (11 individuals) with variants in LSS who present with alopecia (11/11), intellectual disability (10 mod/severe, 1 mild) and epilepsy (7/11). Segregation data shown for 6 families.

PMID: 30401459 - Romano et al 2018 - report 3 unrelated (Arabic, Swiss, Afgan origin) families with potentially autosomal-recessive Hypotrichosis simplex in which they identify by WES 5 five different missense and nonsense mutations in LSS. Variants were shown to segregate with the disorder in 2 families (DNA not available for the third). In one family the siblings also presented with intellectual disability but the authors consider this coincidental. No other phenotypes such as cataracts were reported.

PMID: 29016354 - Chen and Lui 2017 - report a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and compound heterozygous variants in LSS.
Sources: Literature
Ectodermal dysplasia v1.12 ANAPC1 Ivone Leong gene: ANAPC1 was added
gene: ANAPC1 was added to Ectodermal dysplasia. Sources: Literature
for-review tags were added to gene: ANAPC1.
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Review for gene: ANAPC1 was set to GREEN
Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome. 4 of 7 families are homozygous for the same intronic variant (c.2705-198C-T) and the remaining 3 affected families are compound heterozygous (c.2705-198C-T with another variant in the gene). All affected individuals have poikiloderma. 9/10 patients had sparse or absent hair, eyebrows, or eyelashes. 5/10 had abnormal teeth and 4/10 had abnormal nails. There is enough evidence to support a gene-disease association. This gene should be rated Green pending review from GMS.
Sources: Literature
Ectodermal dysplasia v1.11 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Ectodermal dysplasia v1.9 C3orf52 Eleanor Williams gene: C3orf52 was added
gene: C3orf52 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C3orf52 were set to 32336749
Phenotypes for gene: C3orf52 were set to Localized hypotrichosis
Review for gene: C3orf52 was set to AMBER
Added comment: Not associated with a phenotype in OMIM.

PMID: 32336749 - Malki et al 2020 - identified homozygous variants in C3ORF52 in four individuals with Localized autosomal recessive hypotrichosis (LAH) (2 families). C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H-mediated LPA biosynthesis. Abstract only accessed.
Sources: Literature
Ectodermal dysplasia v1.8 PRKD1 Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases to support a gene-disease association. Therefore, PRKD1 should be upgraded from Amber to Green at the next major review.
Ectodermal dysplasia v1.7 PRKD1 Arina Puzriakova gene: PRKD1 was added
gene: PRKD1 was added to Ectodermal dysplasia. Sources: Literature
for-review tags were added to gene: PRKD1.
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKD1 were set to 27479907; 32817298
Phenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia, 617364
Review for gene: PRKD1 was set to GREEN
Added comment: PMID: 27479907 (2016) - Three unrelated cases with de novo missense variants in the PRKD1 gene. Variable characteristics of ectodermal dysplasia included sparse hair, dry or thin skin, fragile nails, and dental abnormalities (premature loss of primary teeth, small widely spaced teeth). Additional features include atrioventricular septal defects or pulmonic stenosis, severe developmental delay and microcephaly. No functional studies of the variants were performed.

PMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, respectively. Both displayed features of ectodermal dysplasia such as dry skin, absence of permanent teeth and poor hair growth. Other features included congenital heart defects, skeletal abnormalities and generalised teleangiectasia.
Sources: Literature
Ectodermal dysplasia v1.6 LEF1 Zornitza Stark gene: LEF1 was added
gene: LEF1 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: LEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEF1 were set to 32022899
Phenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet
Review for gene: LEF1 was set to RED
Added comment: In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. One report of two unrelated patients with 4q25 de novo deletion encompassing LEF1 , associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. No reports of SNVs.
Sources: Literature
Ectodermal dysplasia v1.1 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Ectodermal dysplasia v0.36 Ivone Leong List of related panels changed from to R163
Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Ectodermal dysplasia v0.34 KRT83 Catherine Snow changed review comment from: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; to: KRT83 is in OMIM with relevant phenotype of Monilethrix, KRT83 is part of a family of genes with KRT86 and KRT81 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.
Ectodermal dysplasia v0.34 KRT83 Catherine Snow edited their review of gene: KRT83: Added comment: KRT81 is in OMIM with relevant phenotype of Monilethrix, KRT81 is part of a family of genes with KRT86 and KRT83 with this phenotype. Less than three individuals identified in KRT83 with phenotype of Monilethrix.

In OMIM in a monoallelic form KRT83 variant has been reported in one Pakistani kindred, associated with Erythrokeratodermia variabilis et progressiva, all family members had normal hair, teeth, and sweating therefore different phenotype.

As neither phenotype has more than three variants identified KRT83 will be classified as Amber.; Changed phenotypes: Monilethrix, 158000, Erythrokeratodermia variabilis et progressiva, 617756; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia v0.34 KRT81 Catherine Snow changed review comment from: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms. KRT81 currently classified as Amber as less than 3 unrelated individuals identified.; to: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms, therefore classifying KRT81 as Amber.
Ectodermal dysplasia v0.33 KRT81 Catherine Snow edited their review of gene: KRT81: Added comment: KRT81 is in OMIM with relevant phenotype of Monilethrix. Two publications detailing two separate families, which reported that penetrance is variable and one family member had the variant but no reported symptoms. KRT81 currently classified as Amber as less than 3 unrelated individuals identified.; Changed publications: 9402962, 9665406; Changed phenotypes: Monilethrix
Ectodermal dysplasia v0.23 AR Catherine Snow Classified gene: AR as Red List (low evidence)
Ectodermal dysplasia v0.23 AR Catherine Snow Added comment: Comment on list classification: No gene disease association can be found.
Ectodermal dysplasia v0.23 AR Catherine Snow Gene: ar has been classified as Red List (Low Evidence).
Ectodermal dysplasia v0.16 AR Catherine Snow Phenotypes for gene: AR were changed from to Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633; Spinal and bulbar muscular atrophy of Kennedy, 313200
Ectodermal dysplasia v0.15 AR Catherine Snow reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, 300068, Androgen insensitivity, partial, with or without breast cancer, 312300, Hypospadias 1, X-linked, 300633, Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: None
Ectodermal dysplasia v0.15 AR Catherine Snow gene: AR was added
gene: AR was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ectodermal dysplasia v0.10 TSPEAR Rebecca Foulger Classified gene: TSPEAR as Green List (high evidence)
Ectodermal dysplasia v0.10 TSPEAR Rebecca Foulger Gene: tspear has been classified as Green List (High Evidence).
Ectodermal dysplasia v0.9 TSPEAR Rebecca Foulger commented on gene: TSPEAR
Ectodermal dysplasia v0.9 TSPEAR Rebecca Foulger Phenotypes for gene: TSPEAR were changed from ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Ectodermal dysplasia v0.8 TSPEAR Tom Cullup gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal dysplasia. Sources: Expert list
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 27736875
Phenotypes for gene: TSPEAR were set to ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
Penetrance for gene: TSPEAR were set to Complete
Review for gene: TSPEAR was set to GREEN
Added comment: Sources: Expert list
Ectodermal dysplasia v0.3 WNT10A Ellen McDonagh gene: WNT10A was added
gene: WNT10A was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: WNT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10A were set to Schopf-Schulz-Passarge syndrome 224750; Odontoonychodermal dysplasia 257980
Ectodermal dysplasia v0.3 TP63 Ellen McDonagh gene: TP63 was added
gene: TP63 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Limb-mammary syndrome, 603543; Rapp-Hodgkin Syndrome; ADULT syndrome, 103285; Orofac; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Orofacial cleft 8, 129400; Hay-Wells syndrome, 106260; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; Split-Hand/foot Malformation 4; Split-hand/foot malformation 4, 605289; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; Rapp-Hodgkin syndrome, 129400; Limb-Mammary Syndrome; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Adult Syndrome
Ectodermal dysplasia v0.3 TGM1 Ellen McDonagh gene: TGM1 was added
gene: TGM1 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 1, 242300
Ectodermal dysplasia v0.3 ST14 Ellen McDonagh gene: ST14 was added
gene: ST14 was added to Ectodermal dysplasia. Sources: Expert Review Red
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, 602400; Some affected persons exhibit scarring alopecia
Ectodermal dysplasia v0.3 SDR9C7 Ellen McDonagh gene: SDR9C7 was added
gene: SDR9C7 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
Ectodermal dysplasia v0.3 RPL21 Ellen McDonagh gene: RPL21 was added
gene: RPL21 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL21 were set to 21412954
Phenotypes for gene: RPL21 were set to HYPT12; Hypotrichosis 12, 615885; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)
Ectodermal dysplasia v0.3 RMRP Ellen McDonagh gene: RMRP was added
gene: RMRP was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia 250250
Ectodermal dysplasia v0.3 PPARG Ellen McDonagh gene: PPARG was added
gene: PPARG was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PPARG was set to Unknown
Publications for gene: PPARG were set to 19369934; 19052558
Phenotypes for gene: PPARG were set to lichen planopilaris; LPP; PCA; primary cicatricial alopecia; scarring alopecia
Ectodermal dysplasia v0.3 PNPLA1 Ellen McDonagh gene: PNPLA1 was added
gene: PNPLA1 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024; Some affected persons exhibit scarring alopecia
Ectodermal dysplasia v0.3 PLEC Ellen McDonagh gene: PLEC was added
gene: PLEC was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 20301336
Phenotypes for gene: PLEC were set to PLEC-related Epidermolysis Bullosa; Epidermolysis bullosa simplex, Ogna type, 131950; scarring alopecia; Epidermolysis bullosa simplex with muscular dystrophy, 226670; Epidermolysis bullosa simplex with pyloric atresia, 612138
Ectodermal dysplasia v0.3 NIPAL4 Ellen McDonagh gene: NIPAL4 was added
gene: NIPAL4 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 6, 612281
Ectodermal dysplasia v0.3 NFKB2 Ellen McDonagh gene: NFKB2 was added
gene: NFKB2 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 615577
Ectodermal dysplasia v0.3 MBTPS2 Ellen McDonagh gene: MBTPS2 was added
gene: MBTPS2 was added to Ectodermal dysplasia. Sources: Expert Review Green
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 22816986; 20672378; 23316014
Phenotypes for gene: MBTPS2 were set to scarring alopecia; KFSDX; Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
Ectodermal dysplasia v0.3 LPAR6 Ellen McDonagh gene: LPAR6 was added
gene: LPAR6 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPAR6 were set to 21426374; 21070332; 18461368
Phenotypes for gene: LPAR6 were set to Hypotrichosis 8; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; HYPT8; localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Hypotrichosis 8, 278150
Ectodermal dysplasia v0.3 LIPN Ellen McDonagh gene: LIPN was added
gene: LIPN was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPN were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 8, 613943
Ectodermal dysplasia v0.3 LIPH Ellen McDonagh gene: LIPH was added
gene: LIPH was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPH were set to Hypotrichosis 7, 604379; HYPT7; localized autosomal recessive hypotrichosis-2 (LAH2); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
Ectodermal dysplasia v0.3 KRT85 Ellen McDonagh gene: KRT85 was added
gene: KRT85 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT85 were set to 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).; 16525032 (a homozygous variant identified in a large kindred of Pakistani origin)
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia, pure hair and nail type; Ectodermal dysplasia 4, hair/nail type, 602032
Ectodermal dysplasia v0.3 ITGB4 Ellen McDonagh gene: ITGB4 was added
gene: ITGB4 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB4 were set to 20301336
Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; EB-PA; scarring alopecia
Ectodermal dysplasia v0.3 ITGA6 Ellen McDonagh gene: ITGA6 was added
gene: ITGA6 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA6 were set to 20301336
Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia; EB-PA; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; scarring alopecia
Ectodermal dysplasia v0.3 HR Ellen McDonagh gene: HR was added
gene: HR was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: HR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HR were set to HYPT4; Marie Unna hereditary hypotrichosis 1 (MUHH1); Marie Unna hereditary hypotrichosis (MUHH); Hypotrichosis 4, 146550
Mode of pathogenicity for gene: HR was set to Other - please provide details in the comments
Ectodermal dysplasia v0.3 HLA-DRA Ellen McDonagh gene: HLA-DRA was added
gene: HLA-DRA was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: HLA-DRA was set to Unknown
Phenotypes for gene: HLA-DRA were set to lichen planopilaris; progressive cicatricial (scarring) alopecia; Graham Little syndrome; Graham Little-Piccardi-Lassueur syndrome
Ectodermal dysplasia v0.3 GJB2 Ellen McDonagh Added phenotypes Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome for gene: GJB2
Ectodermal dysplasia v0.3 GJB2 Ellen McDonagh gene: GJB2 was added
gene: GJB2 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB2 were set to 2681028; 25575739; 25808784; 15757815
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome
Ectodermal dysplasia v0.3 EDARADD Ellen McDonagh gene: EDARADD was added
gene: EDARADD was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: EDARADD were set to 20477971; 21626677; 26440664; 22013926 (rat model); 26991760; 20222921; 25206167 (review)
Phenotypes for gene: EDARADD were set to Hypohidrotic Ectodermal Dysplasia, Recessive; Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Hypohidrotic ectodermal dysplasia; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940
Ectodermal dysplasia v0.3 EDAR Ellen McDonagh gene: EDAR was added
gene: EDAR was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Hypohidrotic Ectodermal Dysplasia, Dominant; [Hair morphology 1, hair thickness], 612630; Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia; [Hair morphology 1, hair thickness], 612630 -3; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
Ectodermal dysplasia v0.3 DSG4 Ellen McDonagh gene: DSG4 was added
gene: DSG4 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG4 were set to 15304105
Phenotypes for gene: DSG4 were set to HYPT6; localized autosomal recessive hypotrichosis-1 (LAH1); Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Localized AR Hypotrichosis; localized autosomal recessive hypotrichosis; Hypotrichosis 6, 607903; Hypotrichosis simplex (HS)
Ectodermal dysplasia v0.3 CYP4F22 Ellen McDonagh gene: CYP4F22 was added
gene: CYP4F22 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 5, 604777
Ectodermal dysplasia v0.3 CLDN1 Ellen McDonagh gene: CLDN1 was added
gene: CLDN1 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626; scarring alopecia
Ectodermal dysplasia v0.3 CERS3 Ellen McDonagh gene: CERS3 was added
gene: CERS3 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 9, 615023
Ectodermal dysplasia v0.3 CDH3 Ellen McDonagh gene: CDH3 was added
gene: CDH3 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 22140374
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Ectodermal dysplasia v0.3 APCDD1 Ellen McDonagh gene: APCDD1 was added
gene: APCDD1 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APCDD1 were set to 20393562; 22512811
Phenotypes for gene: APCDD1 were set to Hypotrichosis 1; non-syndromic hereditary hypotrichosis; Hypotrichosis 1, 605389; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)
Ectodermal dysplasia v0.3 ALOXE3 Ellen McDonagh gene: ALOXE3 was added
gene: ALOXE3 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 3, 606545
Ectodermal dysplasia v0.3 ALOX12B Ellen McDonagh gene: ALOX12B was added
gene: ALOX12B was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 2, 242100; Lamellar ichthyosis
Ectodermal dysplasia v0.3 ABCA12 Ellen McDonagh gene: ABCA12 was added
gene: ABCA12 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, autosomal recessive 4B (harlequin), 242500; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 4A, 601277
Ectodermal dysplasia v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Ectodermal dysplasia v0.0 Ellen McDonagh Added Panel Ectodermal dysplasia
Set panel types to: GMS Rare Disease