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Ectodermal Dysplasia v0.86 RSPO4 Paul De Fazio gene: RSPO4 was added
gene: RSPO4 was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO4 were set to 17041604; 17914448; 18070203
Phenotypes for gene: RSPO4 were set to Anonychia congenita MIM# 206800
Review for gene: RSPO4 was set to GREEN
gene: RSPO4 was marked as current diagnostic
Added comment: Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).

Multiple families with homozygous or compound heterozygous variants, in consanguineous and non-consanguineous families.
Sources: Literature
Ectodermal Dysplasia v0.86 FOSL2 Zornitza Stark Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789
Ectodermal Dysplasia v0.85 FOSL2 Zornitza Stark reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal Dysplasia v0.85 MAP3K20 Zornitza Stark Marked gene: MAP3K20 as ready
Ectodermal Dysplasia v0.85 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.85 MAP3K20 Zornitza Stark Classified gene: MAP3K20 as Green List (high evidence)
Ectodermal Dysplasia v0.85 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.84 MAP3K20 Zornitza Stark gene: MAP3K20 was added
gene: MAP3K20 was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: MAP3K20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K20 were set to 38451290
Phenotypes for gene: MAP3K20 were set to Syndromic disease, MONDO:0002254, MAP3K20-related
Review for gene: MAP3K20 was set to GREEN
Added comment: PMID 38451290: five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20.
Sources: Literature
Ectodermal Dysplasia v0.83 TUFT1 Zornitza Stark Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026
Ectodermal Dysplasia v0.82 TUFT1 Zornitza Stark edited their review of gene: TUFT1: Changed publications: 36689522
Ectodermal Dysplasia v0.82 TUFT1 Zornitza Stark Phenotypes for gene: TUFT1 were changed from Ectodermal dysplasia, MONDO:0019287, TUFT1-related to Woolly hair-skin fragility syndrome, MIM# 620415
Ectodermal Dysplasia v0.81 TUFT1 Zornitza Stark edited their review of gene: TUFT1: Changed phenotypes: Woolly hair-skin fragility syndrome, MIM# 620415
Ectodermal Dysplasia v0.81 RIPK4 Bryony Thompson Marked gene: RIPK4 as ready
Ectodermal Dysplasia v0.81 RIPK4 Bryony Thompson Gene: ripk4 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.81 RIPK4 Bryony Thompson Classified gene: RIPK4 as Green List (high evidence)
Ectodermal Dysplasia v0.81 RIPK4 Bryony Thompson Gene: ripk4 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.80 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 v0.80 CST6 Zornitza Stark Marked gene: CST6 as ready
Ectodermal Dysplasia v0.80 CST6 Zornitza Stark Gene: cst6 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.80 CST6 Zornitza Stark Phenotypes for gene: CST6 were changed from ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 to Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Ectodermal Dysplasia v0.79 CST6 Zornitza Stark Publications for gene: CST6 were set to 30425301
Ectodermal Dysplasia v0.78 CST6 Chirag Patel Classified gene: CST6 as Green List (high evidence)
Ectodermal Dysplasia v0.78 CST6 Chirag Patel Gene: cst6 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.77 CST6 Chirag Patel reviewed gene: CST6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36371786; Phenotypes: dry skin, desquamation and abnormal keratosis without hypotrichosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.77 TUFT1 Zornitza Stark Marked gene: TUFT1 as ready
Ectodermal Dysplasia v0.77 TUFT1 Zornitza Stark Gene: tuft1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.77 TUFT1 Zornitza Stark Classified gene: TUFT1 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.77 TUFT1 Zornitza Stark Gene: tuft1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.76 TUFT1 Zornitza Stark gene: TUFT1 was added
gene: TUFT1 was added to Ectodermal Dysplasia. Sources: Expert Review
Mode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026
Phenotypes for gene: TUFT1 were set to Ectodermal dysplasia, MONDO:0019287, TUFT1-related
Review for gene: TUFT1 was set to AMBER
Added comment: 9 individuals from three families reported with woolly hair and skin fragility. One of the variants, c.60+1G>A was present in two of the families, founder effect demonstrated by haplotype analysis. Another loss of function variant present in the third family. Some functional data but mostly expression studies.
Sources: Expert Review
Ectodermal Dysplasia v0.75 Zornitza Stark HPO terms changed from to Ectodermal dysplasia, HP:0000968
List of related panels changed from to Ectodermal dysplasia; HP:0000968
Ectodermal Dysplasia v0.74 TSPEAR Zornitza Stark Marked gene: TSPEAR as ready
Ectodermal Dysplasia v0.74 TSPEAR Zornitza Stark Gene: tspear has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.74 TSPEAR Zornitza Stark Publications for gene: TSPEAR were set to
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.72 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Ectodermal Dysplasia v0.72 LEF1 Zornitza Stark Publications for gene: LEF1 were set to PMID: 32022899
Ectodermal Dysplasia v0.71 LEF1 Zornitza Stark Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.70 LEF1 Zornitza Stark Deleted their comment
Ectodermal Dysplasia v0.70 LEF1 Zornitza Stark Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related
Ectodermal Dysplasia v0.69 LEF1 Zornitza Stark Classified gene: LEF1 as Green List (high evidence)
Ectodermal Dysplasia v0.69 LEF1 Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.68 LEF1 Zornitza Stark edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Classified gene: KRT74 as Red List (low evidence)
Ectodermal Dysplasia v0.67 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.66 KRT74 Zornitza Stark reviewed gene: KRT74: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 7, hair/nail type MIM#614929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.66 CHD1 Chirag Patel Classified gene: CHD1 as Red List (low evidence)
Ectodermal Dysplasia v0.66 CHD1 Chirag Patel Gene: chd1 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.65 CHD1 Chirag Patel reviewed gene: CHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ectodermal Dysplasia v0.65 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to 25152456
Ectodermal Dysplasia v0.64 GRHL2 Zornitza Stark Classified gene: GRHL2 as Green List (high evidence)
Ectodermal Dysplasia v0.64 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley changed review comment from: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. Originally described in PMID: 19415813; to: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. 1x originally described in PMID: 19415813
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley edited their review of gene: GRHL2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: ; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: None; Current diagnostic: yes
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Marked gene: HOXC13 as ready
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Gene: hoxc13 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Phenotypes for gene: HOXC13 were changed from Ectodermal dysplasia 9 to Ectodermal dysplasia 9, hair/nail type MIM#614931
Ectodermal Dysplasia v0.62 HOXC13 Zornitza Stark Publications for gene: HOXC13 were set to
Ectodermal Dysplasia v0.61 HOXC13 Zornitza Stark edited their review of gene: HOXC13: Added comment: Four unrelated families reported.; Changed publications: 23063621, 23315978, 29278420
Ectodermal Dysplasia v0.61 HOXC13 Zornitza Stark reviewed gene: HOXC13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 9, hair/nail type MIM#614931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Marked gene: AXIN2 as ready
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Gene: axin2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Classified gene: AXIN2 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.61 AXIN2 Zornitza Stark Gene: axin2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.60 AXIN2 Zornitza Stark gene: AXIN2 was added
gene: AXIN2 was added to Ectodermal Dysplasia. Sources: Expert Review
Mode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AXIN2 were set to 15042511; 21626677; 21416598; 34637023
Phenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome, MIM# 608615
Review for gene: AXIN2 was set to AMBER
Added comment: 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).
Sources: Expert Review
Ectodermal Dysplasia v0.59 HR Zornitza Stark Marked gene: HR as ready
Ectodermal Dysplasia v0.59 HR Zornitza Stark Gene: hr has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.59 HR Zornitza Stark Phenotypes for gene: HR were changed from Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500
Ectodermal Dysplasia v0.58 HR Zornitza Stark Mode of inheritance for gene: HR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.57 HR Ain Roesley reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.56 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Ectodermal Dysplasia. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.

Included due to overlap with hair and dental anomalies.
Sources: Expert Review
Ectodermal Dysplasia v0.55 ANAPC1 Zornitza Stark Phenotypes for gene: ANAPC1 were changed from Rothmund-Thomson syndrome, type 1 MIM#618625 to Rothmund-Thomson syndrome, type 1 MIM#618625; MONDO:0016368
Ectodermal Dysplasia v0.54 ANAPC1 Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1.
Ectodermal Dysplasia v0.54 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund Thomson syndrome type 1, #MIM:618625, MONDO:0016368; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Marked gene: ST14 as ready
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Gene: st14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Classified gene: ST14 as Green List (high evidence)
Ectodermal Dysplasia v0.54 ST14 Bryony Thompson Gene: st14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.53 ST14 Bryony Thompson gene: ST14 was added
gene: ST14 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST14 were set to 18843291; 29611532; 17273967
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400
Review for gene: ST14 was set to GREEN
Added comment: At least 4 consanguineous families with ichthyosis and generalized non-scarring hypotrichosis (an overlapping phenotype with ectodermal dysplasia), and some supporting evidence in patient keratinocytes.
Sources: NHS GMS
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Marked gene: GRHL2 as ready
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Classified gene: GRHL2 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.51 GRHL2 Bryony Thompson gene: GRHL2 was added
gene: GRHL2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHL2 were set to 25152456
Phenotypes for gene: GRHL2 were set to Ectodermal dysplasia/short stature syndrome MIM#616029
Review for gene: GRHL2 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous missense variants and some supporting assays on keratinocytes from cases.
Sources: NHS GMS
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Marked gene: ANAPC1 as ready
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Classified gene: ANAPC1 as Green List (high evidence)
Ectodermal Dysplasia v0.50 ANAPC1 Bryony Thompson Gene: anapc1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.49 ANAPC1 Bryony Thompson gene: ANAPC1 was added
gene: ANAPC1 was added to Ectodermal Dysplasia. Sources: NHS GMS
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 MIM#618625
Review for gene: ANAPC1 was set to GREEN
Added comment: 7 cases from 5 families with biallelic variants (3 different variants) have at least 2 ectodermal features as part of the phenotype.
Sources: NHS GMS
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Marked gene: NFKB2 as ready
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.48 NFKB2 Bryony Thompson Mode of pathogenicity for gene: NFKB2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson edited their review of gene: NFKB2: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson Classified gene: NFKB2 as Green List (high evidence)
Ectodermal Dysplasia v0.47 NFKB2 Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.46 NFKB2 Bryony Thompson gene: NFKB2 was added
gene: NFKB2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to 31417880; 28778864; 27749582
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 MIM#615577
Review for gene: NFKB2 was set to GREEN
Added comment: Heterozygous C-terminal variants (both stopgain and missense) with gain-of-function effects cause early onset common variable immunodeficiency (CVID) with ectodermal dysplasia, while loss of function cause CVID without ectodermal manifestations. >3 cases reported with ectodermal dysplasia as a feature of the condition.
Sources: NHS GMS
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Marked gene: MBTPS2 as ready
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Classified gene: MBTPS2 as Green List (high evidence)
Ectodermal Dysplasia v0.45 MBTPS2 Bryony Thompson Gene: mbtps2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.44 MBTPS2 Bryony Thompson gene: MBTPS2 was added
gene: MBTPS2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MBTPS2 were set to 19361614; 22105905; 24313295
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome MIM#308205
Review for gene: MBTPS2 was set to GREEN
Added comment: >3 families reported with ectodermal dysplasia as a feature of the condition, however there is phenotype variability and intra-familial phenotype variability. Ectodermal dysplasia is a feature of BRESHECK syndrome
Sources: NHS GMS
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Marked gene: KRT14 as ready
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Classified gene: KRT14 as Green List (high evidence)
Ectodermal Dysplasia v0.43 KRT14 Bryony Thompson Gene: krt14 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.42 KRT14 Bryony Thompson gene: KRT14 was added
gene: KRT14 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 16960809; 30968399
Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome MIM#161000; Dermatopathia pigmentosa reticularis MIM#125595
Review for gene: KRT14 was set to GREEN
Added comment: >3 families reported with an ectodermal dysplasia syndrome that involves teeth, hair, and skin.
Sources: NHS GMS
Ectodermal Dysplasia v0.41 PORCN Zornitza Stark Marked gene: PORCN as ready
Ectodermal Dysplasia v0.41 PORCN Zornitza Stark Gene: porcn has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.41 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM# 305600
Ectodermal Dysplasia v0.40 PORCN Zornitza Stark reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM# 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ectodermal Dysplasia v0.39 EVC Zornitza Stark Marked gene: EVC as ready
Ectodermal Dysplasia v0.39 EVC Zornitza Stark Gene: evc has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.39 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Weyers acrofacial dysostosis, Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
Ectodermal Dysplasia v0.38 EVC Zornitza Stark edited their review of gene: EVC: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.38 EVC Zornitza Stark edited their review of gene: EVC: Changed phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530
Ectodermal Dysplasia v0.38 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.37 EVC Zornitza Stark reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.37 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Ectodermal Dysplasia v0.37 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.37 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2 to Trichothiodystrophy 1, photosensitive, MIM# 601675
Ectodermal Dysplasia v0.36 ERCC2 Zornitza Stark Publications for gene: ERCC2 were set to
Ectodermal Dysplasia v0.35 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9195225, 9758621; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM# 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.35 EDAR Zornitza Stark Marked gene: EDAR as ready
Ectodermal Dysplasia v0.35 EDAR Zornitza Stark Gene: edar has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.35 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, anhidrotic, Hair morphology to Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900
Ectodermal Dysplasia v0.34 EDAR Zornitza Stark reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.34 EDA Zornitza Stark Marked gene: EDA as ready
Ectodermal Dysplasia v0.34 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.34 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective to Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100; MONDO:0010585
Ectodermal Dysplasia v0.33 EDA Zornitza Stark reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100, MONDO:0010585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ectodermal Dysplasia v0.33 PRKD1 Zornitza Stark Marked gene: PRKD1 as ready
Ectodermal Dysplasia v0.33 PRKD1 Zornitza Stark Gene: prkd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.33 PRKD1 Zornitza Stark Phenotypes for gene: PRKD1 were changed from Congenital heart defects and ectodermal dysplasia to Congenital heart defects and ectodermal dysplasia, MIM# 617364
Ectodermal Dysplasia v0.32 PRKD1 Zornitza Stark Publications for gene: PRKD1 were set to
Ectodermal Dysplasia v0.31 PRKD1 Zornitza Stark Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal Dysplasia v0.30 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Ectodermal Dysplasia v0.30 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.30 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Ectodermal Dysplasia v0.29 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Ectodermal Dysplasia v0.28 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.28 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Ectodermal Dysplasia v0.28 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.28 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 to Bjornstad syndrome MIM#262000
Ectodermal Dysplasia v0.27 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Marked gene: CTSC as ready
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Classified gene: CTSC as Green List (high evidence)
Ectodermal Dysplasia v0.26 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.25 CTSC Bryony Thompson gene: CTSC was added
gene: CTSC was added to Ectodermal Dysplasia. Sources: Other
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 10581027
Phenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM). Ectodermal dysplasia (involving skin and teeth) is a feature of the conditions caused by biallelic variants in this gene.
Sources: Other
Ectodermal Dysplasia v0.24 PRKD1 Zornitza Stark reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907, 32817298; Phenotypes: Congenital heart defects and ectodermal dysplasia, MIM# 617364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal Dysplasia v0.24 LEF1 Zornitza Stark Marked gene: LEF1 as ready
Ectodermal Dysplasia v0.24 LEF1 Zornitza Stark Gene: lef1 has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.24 LEF1 Chirag Patel 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 PMID: 32022899
Phenotypes for gene: LEF1 were set to Ectodermal dysplasia, no OMIM# yet
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. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human.
Sources: Literature
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Marked gene: LSS as ready
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Ectodermal Dysplasia v0.23 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.22 LSS Bryony Thompson 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 30723320; 32101538
Phenotypes for gene: LSS were set to Alopecia-mental retardation syndrome 4 MIM#618840; Hypotrichosis 14 MIM#618275
Review for gene: LSS was set to GREEN
Added comment: Seven families with biallelic variants with a neuroectordermal syndrome, including alopecia. Mouse model has hypotrichosis cataracts.
Sources: Literature
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Marked gene: KREMEN1 as ready
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.21 KREMEN1 Zornitza Stark Publications for gene: KREMEN1 were set to
Ectodermal Dysplasia v0.20 KREMEN1 Zornitza Stark Classified gene: KREMEN1 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.20 KREMEN1 Zornitza Stark Gene: kremen1 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.19 KREMEN1 Zornitza Stark reviewed gene: KREMEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29526031, 29526031; Phenotypes: Ectodermal dysplasia 13, hair/tooth type, 617392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.19 Zornitza Stark Panel name changed from Ectodermal Dysplasia_RMH to Ectodermal Dysplasia
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark Marked gene: ENAM as ready
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark Gene: enam has been classified as Red List (Low Evidence).
Ectodermal Dysplasia v0.18 ENAM Zornitza Stark gene: ENAM was added
gene: ENAM was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, MIM# 104500; Amelogenesis imperfecta, type IC, MIM# 204650
Review for gene: ENAM was set to RED
Added comment: Affects teeth only.
Sources: Expert list
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Marked gene: PKP1 as ready
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Classified gene: PKP1 as Green List (high evidence)
Ectodermal Dysplasia v0.17 PKP1 Bryony Thompson Gene: pkp1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.16 PKP1 Bryony Thompson gene: PKP1 was added
gene: PKP1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP1 were set to 26288439; 9326952
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome MIM#604536
Review for gene: PKP1 was set to GREEN
Added comment: Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported.
Sources: Expert list
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Marked gene: NFKBIA as ready
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Gene: nfkbia has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Classified gene: NFKBIA as Green List (high evidence)
Ectodermal Dysplasia v0.15 NFKBIA Bryony Thompson Gene: nfkbia has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.14 NFKBIA Bryony Thompson gene: NFKBIA was added
gene: NFKBIA was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKBIA were set to 28597146
Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM#612132
Mode of pathogenicity for gene: NFKBIA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: NFKBIA was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported. Gain-of-function missense variants and nonsense variants upstream from S32 associated with the reinitiation of translation downstream.
Sources: Expert list
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Marked gene: NECTIN1 as ready
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Gene: nectin1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Classified gene: NECTIN1 as Green List (high evidence)
Ectodermal Dysplasia v0.13 NECTIN1 Bryony Thompson Gene: nectin1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.12 NECTIN1 Bryony Thompson gene: NECTIN1 was added
gene: NECTIN1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECTIN1 were set to 25913853
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060
Review for gene: NECTIN1 was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported
Sources: Expert list
Ectodermal Dysplasia v0.11 KRT74 Bryony Thompson Classified gene: KRT74 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.11 KRT74 Bryony Thompson Gene: krt74 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.10 KRT74 Bryony Thompson reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 24714551; Phenotypes: Ectodermal dysplasia 7, hair/nail type MIM#614929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Marked gene: IKBKG as ready
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Gene: ikbkg has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Classified gene: IKBKG as Green List (high evidence)
Ectodermal Dysplasia v0.10 IKBKG Bryony Thompson Gene: ikbkg has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.9 IKBKG Bryony Thompson gene: IKBKG was added
gene: IKBKG was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IKBKG were set to 10839543; 30422821
Phenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1 MIM3300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301; Incontinentia pigmenti MIM#308300
Review for gene: IKBKG was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported.
Sources: Expert list
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson changed review comment from: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list.
Sources: Expert list; to: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, a skeletal ciliopathy.
Sources: Expert list
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Marked gene: IFT43 as ready
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Gene: ift43 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Classified gene: IFT43 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.8 IFT43 Bryony Thompson Gene: ift43 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.7 IFT43 Bryony Thompson gene: IFT43 was added
gene: IFT43 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 21378380; 29896747
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3 MIM#614099
Review for gene: IFT43 was set to AMBER
Added comment: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list.
Sources: Expert list
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Marked gene: CTNND1 as ready
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Gene: ctnnd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Classified gene: CTNND1 as Green List (high evidence)
Ectodermal Dysplasia v0.6 CTNND1 Bryony Thompson Gene: ctnnd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.5 CTNND1 Bryony Thompson gene: CTNND1 was added
gene: CTNND1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNND1 were set to 28301459
Phenotypes for gene: CTNND1 were set to Blepharocheilodontic syndrome 2 MIM#617681
Review for gene: CTNND1 was set to GREEN
Added comment: Ectodermal dysplasia is a feature of the condition. Four cases from three unrelated families.
Sources: Expert list
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Marked gene: CHD1 as ready
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Gene: chd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Classified gene: CHD1 as Green List (high evidence)
Ectodermal Dysplasia v0.4 CHD1 Bryony Thompson Gene: chd1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.3 CHD1 Bryony Thompson gene: CHD1 was added
gene: CHD1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome MIM#617682
Review for gene: CHD1 was set to GREEN
Added comment: Phenotype includes at least two ectodermal structures: translucent skin and cranial-facial feature. >3 cases with mostly de novo variants.
Sources: Expert list
Ectodermal Dysplasia v0.2 CST6 Bryony Thompson Classified gene: CST6 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.2 CST6 Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.1 CST6 Bryony Thompson reviewed gene: CST6: Rating: AMBER; Mode of pathogenicity: None; Publications: 30425301; Phenotypes: Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.1 BCS1L Bryony Thompson reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 24172246, 17314340, 9545407; Phenotypes: Bjornstad syndrome MIM#262000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.1 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Ectodermal Dysplasia v0.0 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392
Ectodermal Dysplasia v0.0 TSPEAR Bryony Thompson gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Ectodermal Dysplasia v0.0 KRT74 Bryony Thompson gene: KRT74 was added
gene: KRT74 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KRT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT74 were set to 24714551
Phenotypes for gene: KRT74 were set to ?Ectodermal dysplasia 7, hair/nail type, 614929
Ectodermal Dysplasia v0.0 KRT85 Bryony Thompson gene: KRT85 was added
gene: KRT85 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032
Ectodermal Dysplasia v0.0 CST6 Bryony Thompson gene: CST6 was added
gene: CST6 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CST6 were set to 30425301
Phenotypes for gene: CST6 were set to ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Ectodermal Dysplasia v0.0 MSX1 Bryony Thompson gene: MSX1 was added
gene: MSX1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type, 189500
Ectodermal Dysplasia v0.0 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDF1 were set to 30977908; 27838789; 24075906
Phenotypes for gene: KDF1 were set to ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Ectodermal Dysplasia v0.0 WNT10A Bryony Thompson gene: WNT10A was added
gene: WNT10A was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome
Ectodermal Dysplasia v0.0 WDR35 Bryony Thompson gene: WDR35 was added
gene: WDR35 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
Ectodermal Dysplasia v0.0 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,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 Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Ectodermal Dysplasia v0.0 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,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, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
Ectodermal Dysplasia v0.0 NECTIN4 Bryony Thompson gene: NECTIN4 was added
gene: NECTIN4 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1
Ectodermal Dysplasia v0.0 PRKD1 Bryony Thompson gene: PRKD1 was added
gene: PRKD1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia
Ectodermal Dysplasia v0.0 PORCN Bryony Thompson gene: PORCN was added
gene: PORCN was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
Ectodermal Dysplasia v0.0 PAX9 Bryony Thompson gene: PAX9 was added
gene: PAX9 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to Tooth agenesis, selective, 3
Ectodermal Dysplasia v0.0 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive
Ectodermal Dysplasia v0.0 LRP6 Bryony Thompson gene: LRP6 was added
gene: LRP6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7
Ectodermal Dysplasia v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia, Naxos disease
Ectodermal Dysplasia v0.0 IFT122 Bryony Thompson gene: IFT122 was added
gene: IFT122 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2
Ectodermal Dysplasia v0.0 HR Bryony Thompson gene: HR was added
gene: HR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita
Ectodermal Dysplasia v0.0 HOXC13 Bryony Thompson gene: HOXC13 was added
gene: HOXC13 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9
Ectodermal Dysplasia v0.0 GJB6 Bryony Thompson gene: GJB6 was added
gene: GJB6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB6 were set to Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)
Ectodermal Dysplasia v0.0 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome
Ectodermal Dysplasia v0.0 EVC2 Bryony Thompson gene: EVC2 was added
gene: EVC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, Weyers acrodental dysostosis
Ectodermal Dysplasia v0.0 EVC Bryony Thompson gene: EVC was added
gene: EVC was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Weyers acrofacial dysostosis, Ellis-van Creveld syndrome
Ectodermal Dysplasia v0.0 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2
Ectodermal Dysplasia v0.0 EDARADD Bryony Thompson gene: EDARADD was added
gene: EDARADD was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive
Ectodermal Dysplasia v0.0 EDAR Bryony Thompson gene: EDAR was added
gene: EDAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology
Ectodermal Dysplasia v0.0 EDA Bryony Thompson gene: EDA was added
gene: EDA was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Ectodermal Dysplasia v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic
Ectodermal Dysplasia v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1
Ectodermal Dysplasia v0.0 Bryony Thompson Added panel Ectodermal Dysplasia_RMH